Crack the core WHen I Say you say...

Question 1

cystic mass in the liver of newborn

Answer 1

hepatoblastoma

Question 2

elevated AFP with liver mass in newborn

Answer 2

hepatoblastoma

Question 3

common bile duct > 10 mm

Answer 3

choledochal cyst

Question 4

lipomatous pseudohypertrophy of pancreas

Answer 4

CF

Question 5

unilateral renal agenesis

Answer 5

unicornuate uterus

Question 6

neonatal renal vein thrombosis

Answer 6

maternal diabetes

Question 7

neonatal renal artery thrombosis

Answer 7

misplaced umbilical artery catheter

Question 8

hydro on fetal MRI

Answer 8

posterior urethral valve

Question 9

urachus

Answer 9

bladder adenocarcinoma

Question 10

nephroblastomatosis with necrosis

Answer 10

Wilms

Question 11

solid renal tumor of infancy

Answer 11

mesoblastic nephroma

Mesoblastic nephroma

Dr Mohamed Saber and Dr Yuranga Weerakkody◉ et al.

Mesoblastic nephroma, also sometimes known as a congenital mesoblastic nephroma (CMN) or fetal renal hamartoma, is, in general, a benign renal tumour that typically occurs in utero or in infancy.

Epidemiology

It is the commonest neonatal renal tumour. Diagnosis is usually made in the antenatal period or immediately after birth. The tumour accounts for approximately 3-6% of all renal neoplasms in children 3,7. Approximately 50% occur during the neonatal period and most of the cases are diagnosed within the first 3 months of life 11. Overall, 90% of the cases are discovered by the age of 1 year 11.

Clinical presentation

Most common clinical presentation is a palpable abdominal mass, with haematuria occurring less frequently.

Pathology

It is a mesenchymal tumour. Macroscopically the tumour is a solid un-encapsulated mass which often occurs near the renal hilum. It tends to invade the surrounding structures and renal parenchyma. Haemorrhage and necrosis are infrequent. Histologically, it is typically composed of connective tissue growing between nephrons, usually replacing most of the renal parenchyma.

The classic cytological description of the lesion is that of cellular clusters of spindle cells, mild nuclear pleomorphism, mitotic activity and no blastema.

Subtypes

There are two main pathological variants:

classic mesoblastic nephroma: accounts for less than one third of cases of CMN 11

cellular mesoblastic nephroma

more heterogeneous in appearance on imaging

tends to be larger and presents later in infancy (> 3 months of life 11)

may exhibit aggressive behaviour including vascular encasement and metastasis 5

Associations

polyhydramnios

fetal hypercalcaemia

Radiographic features

Plain radiograph

Non specific and not an imaging modality of choice but if performed incidentally in a neonate, may demonstrate a soft tissue mass displacing bowel. Calcification is rare 3.

Ultrasound

Sonographic appearance can vary depending on the pathological variant 6. In general it is a well-defined mass with low-level homogeneous echoes. The presence of concentric echogenic and hypoechoic rings can be a helpful diagnostic feature in the classic subtype, but may also be seen in the cellular subtype 11. A more complex pattern due to haemorrhage, cyst formation and necrosis can also be seen and tends to favour the cellular variant. Colour Doppler interrogation may show increased vascularity. Uncommonly the tumour may appear predominantly cystic 11.

Antenatal ultrasound may also show evidence of associated polyhydramnios.

CT

Usually not performed in an antenatal situation. Solid hypoattenuating renal lesion with variable contrast enhancement. Cystic areas, necrosis, and haemorrhage are uncommon (only in cellular type) 5. Typically no calcification seen. Hyperdense foci, however, may be seen related to haemorrhage in the cellular subtype 13.

MRI

Best modality for cross sectional imaging antenatally and can better assess anatomical relationships.

Unless complicated necrosis and haemorrhage (both generally uncommon), general signal characteristics within the mass include:

T1: iso to hypointense 8, may show hyperintense foci related to haemorrhage in the cellular subtype 13

T2: variable, from markedly hypointense to hyperintense 11

DWI: shows restricted diffusion in the solid portion of the tumour, likely related to increase cellularity 12

Treatment and prognosis

The majority are benign tumours and have a favourable outcome. The cellular variant can, at times, be aggressive. As a surgical option, a nephrectomy usually suffices.

Complications

Potential complications with large tumours include:

abdominal dystocia at birth

arterio-venous shunting with subsequent development of hydrops fetalis

Differential diagnosis

Wilms tumour

renal clear cell sarcoma

rhabdoid tumour

Question 12

solid renal tumor of childhood

Answer 12

Wilms

Question 13

midline pelvic mass female

Answer 13

hydrometrocolpos

Question 14

right-sided varicocele

Answer 14

abdominal pathology

Question 15

blue dot sign

Answer 15

torsion of testicular appendage

Question 16

hand or foot pain/swelling in infant

Answer 16

sickle cell with hand foot syndrome

Question 17

extratesticular scrotal mass

Answer 17

embryonal rhabdomyosarcoma

Question 18

narrowing of interpedicular distance

Answer 18

achondroplasia

Question 19

platyspondyly

Answer 19

thanatophoric

Question 20

absent tonsils after 6 months

Answer 20

immune deficiency

Question 21

enlarged tonsils well after childhood (age 12-15)

Answer 21

cancer… probably lymphatic

Question 22

mystery liver abscess in kid

Answer 22

chronic granulomatous disease

Question 23

narrowed B ring

Answer 23

Schatzki (“Schat Bki Ring”)

Schatzki ring

Dr Matt A. Morgan◉ and Dr Jeremy Jones◉ et al.

A Schatzki ring, also called Schatzki-Gary ring, is symptomatically narrow oesophageal B-ring occurring in the distal oesophagus and usually associated with a hiatus hernia.

Epidemiology

Relatively common, lower oesophageal rings are found in ~10% of oesophagrams.

Clinical presentation

Most commonly it presents as intermittent dysphagia, especially to solid food. A history of food impaction is also very common. Dysphagia is more common in patients with an associated motility disorder.

Pathology

The pathogenesis of the Schatzki ring is unclear with conflicting hypotheses that include redundant pleats of mucosa, congenital abnormalities and modified peptic strictures. Interestingly, there is a reduced incidence of Barrett oesophagus in patients with a Schatzki ring.

Depending on its luminal diameter, an oesophageal B-ring may be symptomatic or asymptomatic 4:

<13 mm: almost always symptomatic

13-20 mm: sometimes symptomatic

>20 mm: rarely symptomatic

When it is symptomatic, it is termed a “Schatzki ring”.

Location

Schatzki rings are located at the gastro-oesophageal junction, illustrated by the fact that there is squamous epithelium above and columnar epithelial below the ring. They should not be confused with

A-rings, which are found a few centimetres proximal to the B-ring

oesophageal webs, which are lined on both sides by oesophageal mucosa 6-8

Associations

More than half of patients will have an associated oesophageal condition such as 2:

hiatus hernia

reflux oesophagitis

oesophageal web

oesophageal diverticulum

Radiographic features

Fluoroscopy: barium swallow

Single-contrast solid barium swallows (especially in the RAO prone position) are more sensitive than endoscopy in detecting Schatzki rings 3. On barium swallow the following features may be seen 1:

full-column barium swallow will reveal a circumferential narrowing at the gastro-oesophageal junction, often a few centimetres above the diaphragmatic hiatus

thin smooth ring, 1-3 mm

double contrast studies are less sensitive

performing a Valsalva manoeuvre may improve sensitivity

barium-tablet or barium-coated marshmallow may also improve sensitivity

History and etymology

It is named after Richard Schatzki (1901-92), American physician (born in Germany) 1.

Differential diagnosis

On fluoroscopy consider

ringlike peptic stricture: the indentations are fixed, asymmetric, and wider than those seen in a mucosal B ring.

distal oesophageal carcinoma: usually irregular in appearance

oesophageal A-ring

oesophageal web

Question 24

esophageal concentric rings

Answer 24

eosinophilic esophagitis

Idiopathic eosinophilic oesophagitis

Dr Henry Knipe◉◈ and Dr Marcin Czarniecki et al.

Idiopathic eosinophilic oesophagitis is an inflammatory disease of the oesophagus characterised by eosinophilia that can involve all the layers of the oesophagus.

Epidemiology

It is most commonly seen in males aged 20-40. It is an uncommon disease; however not rare.

Clinical presentation

Patients typically present with dysphagia or with food stuck in the oesophagus. Usually, a specific food or allergen triggers the presentation, and symptoms may persist for a long time afterwards.

Pathology

The exact aetiology is unknown. Exposure to food or allergen triggers the activation of eosinophils within the oesophageal wall and a consequent inflammatory cascade ensues.

Oesophageal strictures, webs and spasm cause the presentation of food impaction.

Radiographic features

Fluoroscopy

‘ringed’ oesophagus: concentric, ring-like strictures of the oesophagus on a barium swallow

these ring-like strictures may co-exist with longer strictures and may be associated with oesophageal spasm, dysmotility and foreshortening

CT

non-specific oesophageal submucosal oedema

Treatment and prognosis

It is self-limiting in some cases but responds well to oral glucocorticoid therapy. It may lead to growth retardation in some children.

Differential diagnosis

gastro-oesophageal reflux, especially if the feline oesophagus is present

oesophageal spasm

intestinal parasitic infestation

drug-induced oesophagitis

References

Question 25

shaggy or plaque-like esophagus

Answer 25

candidiasis

Question 26

looks like Candida but asymptomatic old lady

Answer 26

glycogen acanthosis

Question 27

reticular mucosal pattern

Answer 27

Barretts

Question 28

high stricture with associated hiatal hernia

Answer 28

Barretts

Question 29

abrupt shoulders

Answer 29

cancer

Question 30

Killian Dehiscence

Answer 30

Zenker diverticulum

Question 31

transient fine transverse folds across esophagus

Answer 31

feline esophagus

Question 32

bird’s beak

Answer 32

achalasia

Question 33

solitary esophageal ulcer

Answer 33

CMV or AIDS

Question 34

ulcers at the level of the arch or distal esophagus

Answer 34

medication-induced

Question 35

breast cancer + bowel hamartomas

Answer 35

Cowdens

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Cowden syndrome

Dr Bahman Rasuli◉ and Dr Yuranga Weerakkody◉ et al.

Cowden syndrome, also known as multiple hamartoma syndrome, is characterised by multiple hamartomas throughout the body and increased risk of several cancers.

Terminology

Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden naevus when it is considered a type of epidermal naevus syndrome.

Pathology

The disease is characterised by:

mucocutaneous lesions: present in >90% of cases

trichilemmomas

mucocutaneous papillomatous papules

gastrointestinal hamartomatous polyps (small and large bowel)

glycogenic acanthosis

thyroid abnormalities

thyroid adenomas

multinodular goitre

fibrocystic disease of the breast

In addition to benign hamartoma formation, the syndrome carries a recognised increased risk of cancers 1 such as:

breast cancer: develops in 30-50% of those with the syndrome

thyroid cancer: develops in 5% of those with the syndrome, usually follicular

CNS: dysplastic cerebellar gangliocytoma, occurs when in association with Lhermitte-Duclos disease (LDD)

Syndromic associations

Cowden syndrome is part of a group of disease known as PTEN-related diseases, which also includes:

Lhermitte-Duclos disease (LDD)

Bannayan-Riley-Ruvalcaba syndrome (BRRS) 3

Genetics

It carries an autosomal dominant inheritance with variable penetrance. A gene locus for the disease has been identified on chromosome 10q22-23, a mutation of the PTEN gene.

History and etymology

First described in 1963 by K M Lloyd and M Dennis with the surname of their first patient: Cowden 2.

Question 36

desmoid tumors + bowel polyps

Answer 36

Gardners

Gardner syndrome

Dr Francis Deng◉ and Assoc Prof Frank Gaillard◉◈ et al.

Gardner syndrome is one of the polyposis syndromes. It is characterised by:

familial adenopolyposis

multiple osteomas: especially of the mandible, skull, and long bones

epidermal cysts

fibromatoses

desmoid tumours of mesentery and anterior abdominal wall

Other abnormalities include:

supernumerary teeth and odontomas 4

duodenal tumours / ampullary carcinoma 2,3

papillary thyroid carcinoma

Pathology

There is an autosomal dominant inheritance in the FAP gene (chromosome 5q) in a majority of patients but with 20% of cases resulting from new mutations. Extracolonic features often precede the diagnosis of colonic polyps.

Question 37

brain tumors + bowel polyps

Answer 37

Turcots

Turcot syndrome

Dr Ammar Haouimi◉ and Assoc Prof Frank Gaillard◉◈ et al.

Turcot syndrome is one of the variations in polyposis syndromes. It is characterised by multiple colonic polyps and an increased risk of colon and primary brain cancers.

Epidemiology

Turcot syndrome is a rare disease. Patients typically present in the second decade 3.

Pathology

Turcot syndrome is characterised by:

intestinal polyposis

CNS tumours: most commonly glioblastoma or medulloblastoma

Genetics

It is thought to carry an autosomal recessive inheritance. Two-thirds of patients have mutations in the APC gene, the same genetic defect as in familial adenomatous polyposis (FAP). These patients have multiple colonic adenomas, and virtually all develop colorectal carcinoma by the age of 40. The common intracranial tumour in this subtype is medulloblastoma.

The other third have mutations in the HNPCC genes. Colonic malignancy is not as common in this type but tends to develop at a younger age. Most develop glioblastomas.

History and etymology

It is named after Jacques Turcot (1915 - 1977) 5, Canadian surgeon.

Question 38

enlarged left supraclavicular node

Answer 38

Virchow node (GI cancer)

Question 39

crosses pylorus

Answer 39

gastric lymphoma

Question 40

isolated gastric varices

Answer 40

splenic vein thrombus

Question 41

multiple gastric ulcers

Answer 41

chronic aspirin therapy

Question 42

multiple duodenal (or jejunal) ulcers

Answer 42

Zollinger-Ellison

Question 43

pancreatitis after Billroth 2

Answer 43

afferent loop syndrome

Afferent loop syndrome

Dr Tom Foster◉ and Dr Matt A. Morgan◉ et al.

Afferent loop syndrome is an intermittent partial or complete mechanical obstruction of the afferent limb of a gastrojejunostomy.

The syndrome classically refers to obstruction of the upstream limb of a side-to-side gastrojejunostomy but has also been used to refer to the biliopancreatic limb of a Roux-en-Y gastrojejunostomy. It can be seen after:

partial gastrectomy

Billroth II gastrojejunostomy

gastric bypass

Roux-en-Y gastric bypass

pancreaticoduodenectomy

Epidemiology

Afferent loop syndrome is not an uncommon postoperative complication, and one study has estimated that it occurs in 13% of post-pancreaticoduodenectomy patients 2. Afferent limb syndromes have decreased in incidence with newer surgical techniques to decrease the size of the limb.

Clinical presentation

Patients usually present with epigastric pain, abdominal distention, nausea, and potentially bilious vomiting. It has been classified as acute (<7 days postoperative) or chronic (>7 days postoperative). Bilious vomiting is presumed to occur from regurgitation of bilious contents in the afferent limb into the stomach after release from intermittent obstruction.

Pathology

Possible causes of afferent loop syndrome include kinking at the anastomosis, radiation stricture, internal hernia, or recurrent tumour at the anastomosis.

Radiographic features

Abdominal radiograph

dilated bowel in the right upper quadrant

no dilated bowel may be present, and a high clinical suspicion should be maintained in the appropriate setting

Fluoroscopy

non-opacification of the afferent loop on an upper GI study

possible delayed filling of an enlarged afferent loop

CT

“U-shaped” loop of bowel, adjacent to the pancreas, usually containing water attenuation fluid

common bile duct should enter into the loop

possible gallbladder and biliary dilatation

Treatment and prognosis

Both transhepatic and transgastric approaches to relieve the obstruction have been used. An open procedure is also possible but second line.

Practical points

there is some differing use of the term “afferent limb” in the literature and depending on the type of surgery

in some sources, “afferent limb” is used to refer to stump of small bowel upstream from the Roux limb; some sources use it to refer to the biliopancreatic limb; always check the context to understand the function of the “afferent limb”

Question 44

weight gain years after Roux-en-Y

Answer 44

gastro-gastro fistula

Question 45

clover leaf sign of duodenum

Answer 45

healed peptic ulcer

Cloverleaf duodenum

Robert D’Agostino

Abdominal Radiology volume 43, page1270(2018)Cite this article

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Lewis Gregory Cole, M.D., first described this peculiar deformity of the duodenal bulb. He insisted that this conformation was characteristic of duodenal ulcer in the vast majority of cases, and periduodenal disease in some others. In 1922, it was hailed as a pathognomonic sign to a round of applause [1].

Because of the recurrent course of duodenal ulcer disease before the advent of H-2 blockers and proton-pump inhibitors, after several episodes of ulceration and healing, permanent strands of scar tissue constrict the lumen of the duodenal bulb limiting its normal distensibility [2]. The resultant bulging of the fornices creates “pseudodiverticula” along the duodenal bulb margins, forming the classic cloverleaf or trifoliate appearance seen during a fluoroscopic examination (Fig. 1).

Question 46

sand-like nodules in jejunum

Answer 46

Whipples

Whipple disease

Whipple disease (gastrointestinal manifestations)

Dr Hamish Smith◉ and Dr A Tachibana et al.

Gastrointestinal manifestations are a key component of Whipple disease. The gastrointestinal manifestations of Tropheryma whipplei are also known as intestinal lipodystrophy.

Pathology

Extensive infiltration of the lamina propria with large macrophages infected by intracellular T. whipplei causes marked swelling of intestinal villi and thickened irregular mucosal folds primarily in the duodenum and proximal jejunum. When they become large enough to be macroscopically visible, they may appear as innumerable small filling defects superimposed on irregularly thickened folds (sand-like nodules)

Radiographic features

Reported radiologic features include:

diffuse 1-2 mm micronodules (“sand-like nodules”) in the jejunum

thickened mucosal folds: especially the jejunum

small bowel calibre: normal or slightly dilated

mesenteric lymphadenopathy: nodes of very low (near fat) density 2

Dr Hamish Smith◉ and Dr Yuranga Weerakkody◉ et al.

Whipple disease is a rare infectious multisystem disorder caused by the actinobacteria Tropheryma whipplei.

Epidemiology

The incidence of Whipple disease is not truly known, one Swiss study estimated it at approximately 1 per 1.5 million per year 7.

The peak age for presentation is in the fifth decade of life. Caucasians are most often affected, and men are affected eight times more commonly than women 5. The disease is more common in farmers and those who work with soil and livestock 8.

Clinical presentation

Patients often present with a non-destructive migratory arthritis, weight loss, diarrhoea and abdominal pain. Less commonly patients present with fever, lymphadenopathy or hepatosplenomegaly 5. The presence of arthritis may precede other symptoms by years 8.

Pathology

A suspected diagnosis of Whipple disease can be confirmed by showing periodic acid-Schiff-positive granular foamy macrophages from sampled tissue, such as the small bowel or a peripheral lymph node 5.

Location

The small bowel (intestinal lipodystrophy) is a classical location although the disease can affect a multitude of other organ systems with or without small bowel involvement. Other locations include 1,2:

skin

joints

central nervous system

mediastinum

Radiographic features

These largely depend on the organ system involved:

gastrointestinal manifestations of Whipple disease

CNS manifestations of Whipple disease

thoracic manifestations of Whipple disease

cutaneous manifestations of Whipple disease

joint manifestations of Whipple disease

Treatment and prognosis

CNS involvement with Whipple disease carries poor prognosis and it is invariably fatal without treatment. Approximately half of the patients may show some symptomatic improvement during antibiotic treatment. ~17.5% (range 2-33%) patients may relapse. Thus, early diagnosis and treatment are paramount for survival 6.

History and etymology

First described by George Hoyt Whipple, American (US) pathologist (1878-1976) in 1907 4.

Whipple Disease

Distal duodenum and jejunum are most often involved, with distal small bowel/ileum involved in severe cases

Thickened, irregular folds with sand-like micronodules

Small bowel lumen may be normal or mildly dilated

• CT

Low-density enlarged mesenteric and retroperitoneal lymph nodes that may have near fat-density

Thickened proximal small bowel folds ± submucosal edema due to hypoalbuminemia

• MR

Lymph nodes may show ↑ T1 signal due to fat

TOP DIFFERENTIAL DIAGNOSES

• Celiac disease
• Intestinal opportunistic infections
• Dysgammaglobulinemia
• Intestinal metastases and lymphoma

PATHOLOGY

• Caused by Tropheryma whipplei (probably orally acquired)

Question 47

sand-like nodules in jejunum + CD4 < 100

Answer 47

MAI

Question 48

ribbon-like bowel adult

Answer 48

graft vs host

Graft versus host disease

Dr Rohit Sharma◉ and Dr David Clopton et al.

Graft versus host disease (GvHD) is a frequent complication of allogeneic haematopoietic stem cell transplantation, commonly known as bone marrow transplantation. Anti-rejection drugs have reduced the incidence, although it does still frequently occur.

Pathology

Graft versus host disease can present early/acute (<100 days) or late/chronic (>100 days) post-allogeneic haematopoietic stem cell transplantation and is one of the major complications of this treatment. The skin, gastrointestinal tract (especially small bowel), and liver are the principal affected organs. Effects on the gastrointestinal tract are the most commonly described in the radiology literature.

End-organ damage is the result of recipient’s immune system (mainly antigen presenting cells) interacting with donor T-cell, leading to the latter’s activation with a resultant cell-mediated and inflammatory cascade 8. The pathophysiology of chronic GvHD is not well understood.

Radiographic features

Features depend upon the organ involved.

Fluoroscopy

Gastrointestinal tract

On small bowel barium studies, the bowel is described as having a “ribbon” appearance with fold thickening. Other described features are 5:

oedema of mucosal folds in ileum and jejunum

effacement of folds towards the ileum: can give featureless (atrophic) loops

thickening of the bowel wall

spasms and stenosis with prestenotic dilatation

in the active phase, the bowel can appear shortened

On barium esophagram, the presence of oesophageal web or of a stricture/stenosis in the upper two-thirds of the oesophagus is considered diagnostic of chronic graft-versus-host disease 9.

CT

Abdomen

Gastrointestinal tract

Described CT features include:

bowel wall thickening:

considered the most consistent finding

can affect small or large bowel or both (commonest 6)

bowel dilatation

mucosal enhancement

engorgement of the vasa recta adjacent to affected bowel segments 3

gastric wall thickening

Extraintestinal findings in the abdomen

Reported features include:

mesenteric stranding: ~60% 6

ascites

biliary abnormalities

urinary excretion of orally administered Gastrografin

Question 49

ribbon-like jejunum

Answer 49

long standing celiac

Question 50

Moulage pattern

Answer 50

celiac (moulage = loss of jejunal folds)

Question 51

fold reversal of jejunum and ileum

Answer 51

celiac

Question 52

cavitary (low density) lymph nodes

Answer 52

celiac

Question 53

hide bound or “stack of coins”

Answer 53

scleroderma

Hide-bound sign (bowel)

Dr Evyn Arnfield and Dr Andrew Dixon◉ et al.

The hide-bound bowel sign refers to an appearance on a barium study of the small bowel in patients with scleroderma. The sign describes the narrow separation between the valvulae conniventes which are of normal thickness despite dilatation of the bowel lumen.

Although the term hide-bound is used specifically to describe scleroderma, the same appearance may also be seen in sprue. The stack of coins sign, although similar, should not be confused with the hide-bound sign. The former is seen in intramural haematoma as adjacent, thickened folds with sharp demarcation and crowding of the valvulae conniventes.

Pathology

The cause of hidebound appearance in scleroderma is thought to be asymmetric smooth muscle atrophy of the inner circular muscularis layer relative to the outer longitudinal layer. Contraction of the longitudinal layer results in foreshortening of the bowel and close packing of the valvulae conniventes.

History and etymology

The term hide-bound sign was coined by Alfred Horowitz and Morton Meyers in a study published in 1973, although according to their article the appearance had been described prior to that 3. The term hide-bound was originally used to describe emaciated cattle.

Question 54

megaduodenum

Answer 54

scleroderma/Systemic sclerosis

Scleroderma (gastrointestinal manifestations)

Dr Mohamed Saber and Dr Natalie Yang◈ et al.

Gastrointestinal manifestations of scleroderma can occur in up to 90% of patients with scleroderma 2 with the most common site of gastrointestinal involvement being the oesophagus. After skin changes and Raynaud phenomenon, gastrointestinal changes are the third most common manifestation of scleroderma.

As the clinical presentation, radiographic appearances and differential diagnosis vary with the location of involvement these are discussed sequentially by region.

For a general discussion of scleroderma, please refer to the parent article: scleroderma.

Pathology

Smooth muscle atrophy and fibrosis are thought to be the chief underlying mechanism which leads to luminal dilatation, reduced motility and reduced sphincter tone.

Oesophagus

The oesophagus is affected in 80% of scleroderma cases. Symptoms include heartburn and dysphagia.

Radiographic features

dilatation of distal two-thirds of the oesophagus 1

deficient oesophageal emptying in a recumbent position

apparent shortening of length due to fibrosis

dysmotility of the lower oesophagus (normal peristalsis above aortic arch)

gastro-oesophageal reflux due to reduced sphincter tone

air-fluid level in the oesophagus when supine (CT)

Complications

aspiration

oesophagitis

mucosal erosion

fusiform stricture ~4-5 cm above the gastro-oesophageal junction

progression to Barrett oesophagus (~40%) 3

higher risk of development of oesophageal cancer (adenocarcinoma)

Differential diagnoses

The differential diagnosis includes other causes of a dilated oesophagus (see achalasia pattern) and includes:

achalasia: distal segment narrowing is less than 3.5 cm

central and peripheral neuropathy

oesophageal malignancy

oesophageal stricture

Stomach

Gastric involvement is relatively uncommon but can result in delayed gastric emptying with or without gastric dilatation. Gastric vascular antral ectasia (dilated submucosal capillaries), often known as watermelon stomach, may also occur.

Small bowel

The small bowel is affected in more than 60% of scleroderma patients, the duodenum most frequently. Patients may be asymptomatic or may present with bloating or malabsorption due to bacterial overgrowth.

Radiographic features

luminal dilatation (can be massive)

reduced peristalsis / delayed contrast transit

mucosal folds appear relatively normal despite dilatation

hidebound bowel sign (crowding of valvulae conniventes): thought to be pathognomonic of scleroderma

accordion sign: well seen evenly spaced mucosal folds in duodenum

sacculation (often on the mesenteric border)

Differential diagnoses

sprue: segmentation, flocculation, hypersecretion

small bowel obstruction

Large bowel

The large bowel is affected in ~40% of patients and may cause constipation or diarrhoea. Reduced anal sphincter tone can result in faecal incontinence.

Radiographic features

pseudosacculation

loss of haustration

colonic dilatation

reduced colonic transit time

Differential diagnosis

pseudo-obstruction

adult Hirschsprung disease

Question 55

duodenal obstruction with recent weight loss

Answer 55

SMA syndrome

Superior mesenteric artery syndrome

Dr Mohammad Taghi Niknejad and Dr Erik Ranschaert et al.

Superior mesenteric artery (SMA) syndrome, also known as Wilkie syndrome or cast syndrome or aortomesentric duodenal compression syndrome, is a rare acquired vascular compression disorder in which acute angulation of the superior mesenteric artery (SMA) results in compression of the third part of the duodenum, leading to obstruction.

Terminology

SMA syndrome should not be confused with nutcracker syndrome (which can be an association), also a superior mesenteric artery compression disorder, where the SMA compresses the left renal vein, although some authors use the terms interchangeably.

Epidemiology

It is an uncommon but a well-recognised clinical entity. About 400 cases have been described in the English literature. It is seen more commonly in females than in males and usually occurs in older children and adolescents.

Clinical presentation

Patients with SMA syndrome may present acutely, with chronic insidious symptomatology, or with an acute exacerbation of chronic symptoms:

acute presentation is usually characterised by signs and symptoms of duodenal obstruction

chronic cases may present with long-standing vague abdominal symptoms, early satiety and anorexia, or recurrent episodes of abdominal pain, associated with vomiting

Pathology

Fat and lymphatic tissues around the SMA provide protection to the duodenum against compression. Under conditions of severe weight loss, this cushion around the SMA is diminished, causing angulation and reduction in the distance between the aorta and the superior mesenteric artery. This is usually associated with conditions causing significant weight loss such as:

anorexia nervosa

malabsorption

hypercatabolic states (burns, major surgery, malignancy)

severe congestive heart failure causing cachexia

Other conditions may also precipitate this syndrome:

increased spinal lordosis

application of a body cast

short ligament of Treitz

multiple attachments of the ligament of Treitz to the duodenum

high fixation of the duodenum by the ligament of Treitz

unusually low origin of SMA

an anomalous SMA crossing directly over the aorta

associated with diabetes mellitus and blunt abdominal trauma

Radiographic features

The diagnosis of SMA syndrome is based on clinical symptoms and radiologic evidence of obstruction.

Plain radiograph

The stomach and proximal duodenum are dilated, and filled with gas and/or fluid.

Fluoroscopy

Upper GI fluoroscopy can demonstrate dilatation of the first and second part of the duodenum, extrinsic compression of the third part, and a collapsed small bowel distal to the crossing of the SMA.

CT/MRI

CT and magnetic resonance angiography (CTA/MRA) enable visualisation of vascular compression of the duodenum and measurement of aortomesenteric distance:

normally, the aortomesenteric angle and aortomesenteric distance are 28-65° and 10-34 mm, respectively.6

in SMA syndrome, both parameters are reduced, with values of 6° to 22° and 2 to 8 mm.6

History and etymology

SMA syndrome was first described by Baron Carl von Rokitansky (1804-1878), Bohemian pathologist, in 1861. Later, Sir David Percival Dalbreck Wilkie (1882-1938), English surgeon, provided a more detailed clinical and pathophysiologic description in a series of 75 patients in 1927 and suggested treatment approaches 4,5.

Treatment and prognosis

Traditionally, treatment has consisted of conservative measures such as:

start with the medical management, first which include decompression of the stomach and duodenum with a nasogastric tube, correction of nutritional and electrolytes deficiencies, through TPN, or preferably, if possible, enteral feeding with a nasojejunal tube past the point of compression, which fulfils nutritional requirements while avoiding the complications of TPN. When tolerated, oral feeding may be resumed. This helps build up the fat cushion between the SMA and aorta and, hence, may help in reversing the situation.

posturing manoeuvres during meals and motility agents may be helpful in some patients

lying in right decubitus position may relieve compression of duodenum

Surgery may be considered if conservative treatment fails:

duodenojejunostomy is effective in the majority of patients

laparoscopic duodenojejunostomy offers a new minimally invasive therapeutic approach to SMA syndrome

laparoscopic surgery involving lysis of the ligament of Treitz with the mobilisation of the duodenum is another minimally invasive approach

Differential diagnosis

Other disorders which can present in a similar manner include:

diabetic gastroparesis

scleroderma with duodenal involvement

hereditary megaduodenum

megaduodenum due to aganglionosis.

The distinction between these entities and SMA syndrome is important, particularly if surgical intervention is being considered.

Question 56

cone-shaped cecum

Answer 56

amoebiasis

In the later stages, the cecum characteristically loses its normal sac-like appearance and gradually narrows until it becomes cone-shaped or pyramidal in outline (Figs. 1.23, 1.24, 1.25,1.26). The ileocecal valve often moves downward and may appear to lie close to the tip of the cecum. The valve is invariably thickened, rigid and fixed in an open position, allowing reflux to occur in virtually all barium enema examinations, unlike tuberculosis in which reflux is uncommon. The combination of a conical cecum with a normal-appearing terminal ileum helps to rule out other entities, such as tuberculosis and Crohn’s disease, in most patients, although the terminal six inches of ileum may be involved in 10% or more of patients with severe cecal amebiasis.

Fig. 1.23 Cecal amebiasis with classical conical or pyramidal deformity of the cecum and marked thickening and fixation of the ileocecal valve in two different patients (A and B). There is also shortening of the ascending colon in patient (A). In both patients, there is reflux into a normal terminal ileum which permits differentiation in most patients from Crohn’s disease, tuberculosis, and other inflammatory diseases of the right colon and ileocecal area. (C) Gross specimen of the ascending colon, cecum and terminal ileum of another patient with amebiasis showing several ulcers within a contracted cecum as well as marked thickening of the ileocecal valve and the cecal wall. The ileum is normal. AFIP 113157-05011.

Question 57

lead pipe

Answer 57

ulcerative colitis

Question 58

string sign

Answer 58

Crohns

String sign (bowel)

Dr Matt A. Morgan◉ and Dr Behrang Amini et al.

The gastrointestinal string sign (also known as the string sign of Kantor) refers to the string-like appearance of a contrast-filled bowel loop caused by its severe narrowing.

Originally used to describe the reversible narrowing caused by spasms in Crohn disease, it is now used for any severe narrowing of the bowel lumen, including that seen in hypertrophic pyloric stenosis, gastrointestinal tuberculosis, carcinoid tumour and colon cancer.

History and etymology

Described in a short case series of six patients with terminal ileitis by John L Kantor, an American gastroenterologist from New York, in 1934 4. This was only two years after Crohn’s seminal paper on his eponymous inflammatory bowel disease.

Question 59

massive circumferential thickening without obstruction

Answer 59

lymphoma

Question 60

multiple small bowel target signs

Answer 60

melanoma

Question 61

obstructing old lady hernia

Answer 61

femoral hernia

Question 62

sac of bowel

Answer 62

paraduodenal hernia

Dilated small bowel loops (up to 3.8 cm in diameter). Looks like an internal hernia (?right paraduodenal hernia through ? Waldeyer’s ring). Although the lateral portion of the third of duodenum is not seen, however no other definite signs of bowel non rotation noted. The relation of the SMA and the SMV appears to be maintained. The hernial sac is also showing significant amount of fluid. Clinical Data: Appendicitis.

Dilated small bowel loops are noted (measuring up to 3. 8 cm).

Although the lateral portion of the third part of the duodenum is not seen, however no other definite signs of bowel mal-rotation noted. The relation of the SMA and the SMV appears to be maintained.
The small bowel loops appear to be herniating in posterior and right lateral direction resulting in alteration of the course of the SMA. The hernial sac is displacing the SMA which is seen lying anterior to the hernia sac. The artery is then looping and turning posteriorly and subsequently supplying the herniated bowel loops by branches that are now running posteriorly and towards the right.

Significant amount of fluid noted in hernial sac. However, the wall of the herniated loops appears to be enhancing at present. Fluid also seen in pericaecal and retrocolic region along ascending colon. Appendix not clearly defined. ICJ is normal. Terminal ileum is stretched but normal.

Features are consistent with Right paraduodenal internal hernia with small bowel intestinal
obstruction.

Findings confirmed surgically.

Paraduodenal hernia

Dr Daniel J Bell◉ and Dr Matt A. Morgan◉ et al.

Paraduodenal hernias, although uncommon, have classically been the most common type of internal hernia. However, the incidence of postoperative internal hernias has been increasing recently. The two most common types, the left and right paraduodenal hernia involve small bowel herniating through a congenital opening in the mesenteries. These internal hernias may result in closed-loop bowel obstruction.

Clinical presentation

The patient typically presents with symptoms of small bowel obstruction: abdominal pain, nausea, vomiting.

Pathology

Left paraduodenal hernia

the more common of the two paraduodenal hernias (75%)

small bowel herniates through the fossa of Landzert, a congenital failure of fusion of the descending colon mesentery to the peritoneum in the left upper quadrant

Right paraduodenal hernia

the less common of the two paraduodenal hernias (25%)

small bowel herniates through the fossa of Waldeyer, a congenital failure of fusion of the ascending colon mesentery to the peritoneum in the right lower quadrant

associated with small bowel malrotation

Radiographic features

These hernias usually appear as a sac-like cluster of small bowel loops in an atypical presentation. A closed-loop obstruction may occur within these loops due to the hernia.

However, it is not unusual for small bowel loops to cluster in an atypical position in normal patients. Thin patients may be especially challenging since it may be difficult to follow the course of the collapsed loops of small bowel.

Because of this, vascular landmarks around a potential internal hernia “sac” are critical for making a confident diagnosis.

left paraduodenal hernia

cluster of small bowel loops in the left anterior pararenal space

the cluster of small bowel loops is behind the inferior mesenteric vein (IMV) and behind the ascending left colic artery

right paraduodenal hernia

cluster of small bowel loops is inferior to the third portion of the duodenum

the cluster of small bowel loops is behind the superior mesenteric vein (SMV), the superior mesenteric artery (SMA), and the right colic vein

Question 63

scalloped appearance of liver

Answer 63

pseudomyxoma peritonei

Question 64

HCC without cirrhosis

Answer 64

hepatitis B (or fibrolamellar HCC)

Question 65

capsular retraction

Answer 65

cholangiocarcinoma

Question 66

periportal hypoechoic infiltration + AIDS

Answer 66

Kaposi

Question 67

sparing of the caudate lobe

Answer 67

Budd-Chiari

Question 68

large T2 bright nodules + Budd-Chiari

Answer 68

hyperplastic nodules

Question 69

liver high signal in phase low signal out of phase

Answer 69

fatty liver

Question 70

liver low signal in phase high signal out of phase

Answer 70

hemochromatosis

Question 71

multifocal intrahepatic and extrahepatic biliary stricture

Answer 71

PSC

Question 72

multifocal intrahepatic and extrahepatic biliary strictures + papillary stenosis

Answer 72

AIDS cholangiopathy

Intra and extra hepatic biliary dilatation noted with multiple small outpouchings from peripheral intrahepatic biliary radicals, seen as small hyperintensities with surrounding oedema on T2 fat sat in right lobe of liver.

Beaded appearance of intrahepatic biliary radicals noted similar to sclerosis cholangitis.

T2 hypointense calculous noted in distal end of CBD.

Multiple small hypodensities noted in liver adjacent dilated peripheral intrahepatic biliary radicals. Distal CBD calculous with biliary dilatation is seen.

Case Discussion

Diagnosis of AIDS cholangiopathy was made as the patient was HIV+ve with very low CD4 counts <100 cells/mm3.

Infectious cholangitis characterised by opportunistic organisms in AIDS patients is known as AIDS cholangiopathy. The differential diagnosis includes sclerosing cholangitis and pyogenic cholangitis.

AIDS cholangiopathy

Dr Henry Knipe◉◈ and Assoc Prof Frank Gaillard◉◈ et al.

AIDS cholangiopathy refers to an acalculous, secondary opportunistic cholangitis that occurs in AIDS patients as a result of immunosuppression.

Pathology

Characterised by multiple irregular strictures essentially indistinguishable from primary sclerosing cholangitis (PSC). There are four pathological patterns:

a combination of sclerosing cholangitis and papillary stenosis (50%)

isolated intrahepatic sclerosing cholangitis–like appearance (20%)

isolated papillary stenosis (15%)

long-segment extrahepatic duct stricture +/- concurrent intrahepatic disease (15%)

Aetiology

No definite organism is identified in up to half of the patients. It typically affects patients with low CD4 counts (<135/mm3). Postulated causative organisms include:

cytomegalovirus (CMV)

herpes simplex virus (HSV)

Cryptosporidium parvum

Microsporidium

Mycobacterium avium complex

Differential diagnosis

chemotherapy-induced cholangitis

primary sclerosing cholangitis (PSC)

eosinophilic cholangitis

Attach ImagesReferences

Question 73

bile ducts full of stones

Answer 73

recurrent pyogenic cholangitis

Recurrent pyogenic cholangiohepatitis

Dr Mohamed Saber and Dr Charudutt Jayant Sambhaji et al.

Recurrent pyogenic cholangiohepatitis, previously known as oriental cholangiohepatitis, is a condition most commonly found in patients residing in or immigrated from Southeast Asia and is characterised by intra and extrahepatic bile duct strictures and dilatation with an intraductal pigmented stone formation.

Diagnosis is made after exclusion of more common conditions such as biliary stricture of a known cause, such as previous surgery, trauma, primary or secondary sclerosing cholangitis, and cholangiocarcinoma.

Clinical presentation

The common clinical presentation is that of recurrent right upper quadrant pain, fever, and jaundice. Leucocytosis with elevated alkaline phosphatase and bilirubin are seen.

Pathology

The exact aetiology is not well understood but hepatobiliary infestation with Clonorchis sinensis (liver fluke) (see: clonorchiasis) or Ascaris lumbricoides have been implicated. Other associations include poor nutritional or socioeconomic status and ascending cholangitis from gut Escherichia coli flora.

The fluke acts like a nidus for stone formation, either directly, or by causing strictures which aid stone formation.

Periductal inflammatory changes with infiltration of periportal spaces with inflammatory cells leading to periductal fibrosis and stricture which could ultimately result in focal liver fibrosis or diffuse biliary cirrhosis.

Radiographic features

MRCP is superior to ERCP in depicting intra- and extrahepatic changes.

The best diagnostic clues are intra- and extrahepatic biliary dilatation and multilevel strictures with intraductal pigmented calculi, usually in the absence of gallbladder calculi, a combination of variable density calculi/sludge and regions of segmental liver atrophy (particularly, lateral aspect of the left hepatic lobe) secondary to chronic biliary obstruction.

CT

stones are usually hyperdense to the liver parenchyma

focal areas of fibrosis with heterogeneous enhancement and focal steatosis

MRCP

reduced arborization of peripheral ducts: “arrowhead sign”

multiple intra- and extrahepatic biliary strictures

Treatment and prognosis

Interventional radiology plays a role in the percutaneous biliary drainage of affected segments, removal of pigment stones, balloon dilation of biliary strictures and repeated percutaneous procedures to clear pigment stones and mud-like biliary debris.

Complications

biliary cirrhosis

cholangiocarcinoma (in ~5% of cases)

References

Question 74

gallbladder comet tail artifact

Answer 74

adenomyomatosis

Question 75

lipomatous pseudohypertrophy of the pancreas

Answer 75

CF

Question 76

sausage-shaped pancreas

Answer 76

autoimmune pancreatitis

Question 77

autoimmune pancreatitis

Answer 77

IgG4

Question 78

IgG4,

Answer 78

1. RP fibrosis
2. sclerosing cholangitis
3. fibrosis mediastinitis
4. inflammatory pseudotumour

Question 79

wide duodenal sweep

Answer 79

pancreatic cancer

The first image is a prone view from UGI series showing mass effect on 2nd and 3rd portions of the duodenal sweep.

The second image is an RAO view from UGI series showing mass effect on 3rd portions of the duodenal sweep with mild dilatation of proximal duodenum.

Pancreatic ductal adenocarcinoma

Dr Mohammad Taghi Niknejad and Assoc Prof Frank Gaillard◉◈ et al.

Pancreatic ductal adenocarcinoma makes up the vast majority (~90%) of all pancreatic neoplasms and remains a disease with a very poor prognosis and high morbidity.

On imaging, it usually presents as a hypodense mass on CT that is poorly marginated, which may encase vessels and the common bile duct.

Epidemiology

Pancreatic cancer accounts for 22% of all deaths due to gastrointestinal malignancy, and 5% of all cancer deaths 1. In general, it is a malignancy of the elderly with over 80% of cases occurring after the age of 60 1.

Risk factors

Risk factors include:

cigarette smoking: the strongest environmental risk factor

a diet rich in animal fats and protein

obesity

family history: three or more first-order relatives with pancreatic cancer results in ~20x risk 8

hereditary syndromes 6

HNPCC

familial breast cancer

familial atypical multiple mole melanoma (FAMMM)

hereditary pancreatitis

ataxia-telangiectasia

Peutz-Jeghers syndrome

Perhaps surprisingly there is only a weak if at all present association with heavy alcohol consumption 1.

Clinical presentation

pain (most common)

Courvoisier gallbladder: painless jaundice and enlarged gallbladder

Trousseau syndrome: migratory thrombophlebitis

new-onset diabetes mellitus

lipase hypersecretion syndrome (10-15%) 9

polyarthralgia and subcutaneous fat necrosis +/- lytic bone lesions

elevated serum lipase and eosinophilia

Pathology

Three precursor lesions for pancreatic adenocarcinoma have been identified 8:

pancreatic intraepithelial neoplasia (PanIN)

intraductal papillary mucinous neoplasm (IPMN)

mucinous cystic neoplasm

Cancerous cells arise from the pancreatic ductal epithelium. As the majority of tumours (90%) 1 are not resectable, diagnosis is usually achieved with imaging (typically CT scan) although laparoscopy is often required to confirm resectability 1,2. The key to accurate staging is the assessment of the SMA and coeliac axis, which if involved exclude the patient from any attempted resection 1,2.

Histological subtypes

adenocarcinoma: majority

acinar cell carcinoma of the pancreas

adenosquamous carcinoma of the pancreas

undifferentiated with osteoclasts giant cells

Location and classification

head and uncinate process: two-thirds of cases

body and tail: one-third of cases 1

Staging

Please see pancreatic ductal adenocarcinoma staging.

Recurrence is probably better estimated by a risk score than by staging10

Radiographic features

Fluoroscopy

Barium meal/small bowel follow-through

If large enough may demonstrate a reverse impression on the duodenum: Frostburg inverted 3 sign or a wide duodenal sweep.

Ultrasound

Findings are non-specific and include:

hypoechoic mass

double duct sign may be seen

CT

CT is the workhorse of pancreatic imaging. Typically ductal adenocarcinomas appear as poorly defined masses with extensive surrounding desmoplastic reaction. They enhance poorly compared to adjacent normal pancreatic tissue and thus appear hypodense on arterial phase scans in 75-90% of cases, but may become isodense on delayed scans 1 (thus the need for multiple phase scanning when pancreatic cancer is the clinical question). The double duct sign may be seen. Calcifications are very rare in adenocarcinoma and when present are more likely due to a pre-existing condition such as chronic pancreatitis 11.

CT correlates well with surgical findings in predicting unresectability (positive predictive value of 89-100% 3). The most important feature to assess locally is the relationship of the tumour to surrounding vessels (SMA and coeliac axis). If the tumour surrounds a vessel by more than 180 degrees, then it is deemed T4 disease and is unresectable 3.

MRI

Signal characteristics include:

T1: hypointense cf. normal pancreas 5

T1 FS: hypointense cf. normal pancreas 5

T1 + C (Gd): slower enhancement than the normal pancreas, therefore dynamic injection with fat saturation with arterial phase imaging is ideal

T2/FLAIR: variable (therefore not very useful), depending on the amount of reactive desmoplastic reaction 1,5

MRCP: double duct sign may be seen

Treatment and prognosis

Most tumours are not resectable at diagnosis.

Surgery for stage I and II (see staging of pancreatic cancer) does offer the chance of cure, though with high morbidity (20-30%) and mortality (5%) 3. Resection is performed with a Whipple operation.

Even when resection is possible, the majority of patients succumb to recurrence, with only a doubling of survival in operated patients 1, from 5% to 10% at 5 years 4. At 12 months following the diagnosis, almost a quarter of the patients will have died 4.

Differential diagnosis

General imaging differential considerations include:

acute pancreatitis

chronic pancreatitis

other pancreatic neoplasms

lymphoma

fatty infiltration of the pancreatic head

usually involving the anterior portion

no secondary signs (e.g. pancreatic duct or common bile duct dilatation)

high signal on T1 and signal drop on chemical shift sequences

cholangiocarcinoma

periampullary tumours

pancreatic metastases

Question 80

grandmother pancreatic cyst

Answer 80

serous cystadenoma

Question 81

mother pancreatic cyst

Answer 81

mucinous

Question 82

daughter pancreatic cyst

Answer 82

solid pseudopapillary

Question 83

bladder stones

Answer 83

neurogenic bladder

Question 84

pine cone appearance

Answer 84

neurogenic bladder

Question 85

urethra cancer

Answer 85

squamous cell

Question 86

urethra cancer - prostatic portion

Answer 86

transitional cell

Question 87

urethra cancer - in diverticulum

Answer 87

adenocarcinoma

Question 88

vas deferens calcifications

Answer 88

diabetes

Question 89

calcifications in fatty renal mass

Answer 89

RCC

Question 90

protrude into the renal pelvis

Answer 90

multilocular cystic nephroma

Question 91

no functional renal tissue

Answer 91

multicystic dysplastic kidney

Question 92

multicystic dysplastic kidney

Answer 92

contralateral renal issues (50%)

Question 93

emphysematous pyelonephritis

Answer 93

diabetic

Question 94

xanthogranulomatous pyelonephritis

Answer 94

staghorn stone

Question 95

papillary necrosis

Answer 95

diabetes

Question 96

shrunken calcified kidney

Answer 96

TB (“putty kidney”)

Shrunken right kidney with extensive amorphous calcification.

5 case questions available

Case Discussion

This case demonstrates endstage renal tuberculosis (also known as TB autonephrectomy) resulting in the so-called putty kidney.

Question 97

bilateral medulla nephrocalcinosis

Answer 97

medullary sponge kidney

Question 98

big bright kidney with decreased renal function

Answer 98

HIV

Question 99

hx of lithotripsy

Answer 99

Page kidney

Page kidney

Dr Patrick Rock◉ and Associate Professor Donna D’Souza◉ et al.

Page kidney, or Page phenomenon, refers to systemic hypertension secondary to extrinsic compression of the kidney by a subcapsular collection, e.g. haematoma, seroma, or urinoma.

Clinical presentation

Patients present with hypertension, which may be recognised acutely after an inciting event or following a delay 3. In the acute setting, patients may complain of flank pain. Reduced renal function may be noted.

Pathology

Compression of the kidney results in compression of the intrarenal vessels, which leads to decreased blood flow to the renal parenchymal tissue and induction of renin secretion. Renin-angiotensin system activation results in hypertension.

Aetiology

Patients usually have an inciting event that leads to the development of a subcapsular collection, such as trauma or surgery. In some cases, spontaneous rupture of a mass, aneurysm, or cyst can be responsible 3.

Radiographic features

All modalities will demonstrate a collection surrounding the kidney, of variable density/intensity/echogenicity depending on the nature of the collection. The collection is usually subcapsular in location, maintaining a reniform contour. Importantly, however, the adjacent renal parenchyma should be distorted.

Ultrasound

On Doppler evaluation, renal arterial resistive index is elevated 4.

CT

On contrast-enhanced examination, the affected kidney may demonstrate a delayed nephrogram.

History and etymology

This phenomenon was first described by Irvine H (Heinley) Page (1901-1991) 5,6 in 1939 2 when he discovered that hypertension could be produced in a dog by wrapping one or both kidneys in cellophane. Dr Page was a renowned American cardiologist and is remembered for his research into hypertension, in particular his discovery of serotonin and his work on the renin-angiotensin system.

Question 100

cortical rim sign

Answer 100

subacute renal infarct

Thoracic aorta graft involving the arch and proximal descending segments with a residual aneurysm arising from the left aspect of the aortic arch. No evidence of endoleak. Retro-oesophageal and retrotracheal bypass graft communicating the right external carotid artery to the left common carotid and subclavian arteries. The graft within the distal descending aorta until just before the coeliac trunk now contains partially occlusive eccentric thrombus located anteriorly, measuring approximately 6.6cm in length. No evidence of endoleak. There has been the correction of the focal aneurysmal dilatation of the abdominal aorta at the level of the superior mesenteric artery.

The origin of the coeliac trunk, SMA, and renal arteries are capacious and opacify normally. Circumferential non-significant narrowing is now seen at the distal aspect of the distal aortic anastomosis with further infrarenal atheromatous calcification extending into the common iliac arteries. Central arterial line placed in the left common femoral artery. Portal vein, superior mesenteric vein, and inferior vena cava appear patent. Central venous line within the left common femoral vein.

Multiple ill-defined areas of low attenuation scattered through the periphery of the liver and spleen parenchyma are likely regions of infarction. The right kidney is oedematous and shows only patchy medullary and thin capsular enhancement consistent with a diffuse infarct. Similar focal infarct appearances noted within the left kidney inferior moiety. Patchy infarcts also pointed out in both adrenal glands. The bowel is not dilated and has normal wall enhancement. Small amount of free intraperitoneal fluid. Pneumoperitoneum is likely related to the recent surgery. Bilateral pleural effusions and partial lower lobes collapse with superimposed consolidation at the right base and patchy infiltrates right upper lobe laterally. The endotracheal tube is a good position. Airways are unremarkable. The nasogastric tube in situ.

Multiple segmental/subsegmental occlusive and non-occlusive pulmonary emboli within the right lower lobe and small volume non-occlusive PEs in the right upper lobe. No radiological features of right heart strain. Some of the patchy consolidation in the right lower lobe may reflect pulmonary haemorrhage secondary to PE in the correct clinical context. Infarction is felt less likely.

Case Discussion

This is a busy CT scan with a lot of things going on, but the most interest findings are the multiple visceral infarcts involving the liver, spleen, adrenal glands, and both kidneys that are likely thromboembolic sequelae in this clinical context.

Cortical rim sign (kidneys)

Dr Yahya Baba◉ and Assoc Prof Frank Gaillard◉◈ et al.

The cortical rim sign describes the thin, viable rim of subcapsular cortex seen on contrast-enhanced CT or MRI in major renal vascular compromise including:

renal artery obstruction from embolism, thrombosis or dissection

renal vein thrombosis

acute tubular necrosis

acute cortical necrosis

This occurs because the blood supply to the outer aspect of the cortex is derived from perforating branches of the renal capsular artery which is an early branch of the renal artery.

It is, therefore, useful in distinguishing acute pyelonephritis from a segmental renal infarct on contrast-enhanced CT or MRI.

In the setting of acute pyelonephritis, the areas of abnormally reduced enhancement typically involve a complete wedge of renal parenchyma, extending from medulla peripherally to the capsule. The imaging appearance is thought to correspond to a combination of oedema and ischaemia.

By contrast, segmental renal infarcts may result in wedge-shaped areas of abnormal renal parenchymal hypoenhancement with relative sparing of the cortex where perfusion may be preserved to a thin rim (2-4 mm) of cortex which enhances normally.

Unfortunately, the cortical rim sign is only seen in approximately half of renal infarcts and it may be partial or total depending on the level of vascular occlusion.

Question 101

hx renal biopsy

Answer 101

AVF

Question 102

reversed diastolic flow

Answer 102

renal vein thrombosis

Question 103

sickle cell trait

Answer 103

medullary RCC

Question 104

young adult + renal mass + severe HTN

Answer 104

juxtaglomerular cell tumor

Juxtaglomerular cell tumour

Dr Subhan Iqbal◉ and Dr T Menezes et al.

Juxtaglomerular cell tumours, also known as reninomas, are uncommon renal tumour of the juxtaglomerular cells. The tumour cells secrete renin and often cause severe hypertension and hypokalaemia.

Epidemiology

Juxtaglomerular cell tumour affect all age groups, but are most common in adolescents and young adults, with peak prevalence in the second and third decades of life.

There is a female predominance.

Clinical presentation

Patients with a juxtaglomerular cell tumour present with headaches, dizziness, double vision, retinopathy, nausea, vomiting, and polyuria and most of these may be attributed to hypertension or hypokalaemia. Reninoma may be a reason of cerebrovascular accident and death 5.

Pathology

Juxtaglomerular cell tumour is often well-circumscribed, yellow to gray-tan in colour, with a complete or partial fibrous capsule usually observed. Histologically cytoplasm of tumour cells consisting of renin and solid sheets of closely packed round to polygonal cells 5.

Radiographic features

Imaging findings are variable.

Ultrasound

hypoechoic mass

CT

variable density with moderate enhancement during late phase after contrast administration

MRI

Reported signal characteristics include

T1: iso-signal intensity

T2: high-signal intensity

Treatment and prognosis

Complete tumour resection by radical or partial nephrectomy is the best treatment for juxtaglomerular cell tumour. Anti-hypertensive agents can be used to manage hypertension until definitive therapy is planned.

History and etymology

Juxtaglomerular cell tumour was originally described in 1967 by Robertson et al, but first named by Kihara et al. in 1968. Approximately 100 case reports have been published.

Differential diagnosis

On imaging consider other renal tumours such as

glomus tumour - kidney

haemangiopericytoma - kidney

metanephric adenoma - kidney

papillary renal cell carcinoma

collecting duct carcinoma

urothelial carcinoma

renal angiomyolipoma

Wilms tumour

Question 105

squamous cell bladder cancer

Answer 105

schistosomiasis

Question 106

entire bladder calcified

Answer 106

schistosomiasis

Question 107

urachus

Answer 107

adenocarcinoma of bladder

Question 108

long stricture in urethra

Answer 108

gonococcal

Question 109

short stricture in urethra

Answer 109

straddle injury

Question 110

unicornuate uterus

Answer 110

look at kidneys

Question 111

T-shaped uterus

Answer 111

DES-related or vaginal clear cell cancer

A t-shaped uterus is a type of uterine malformation wherein the uterus is shaped resembling the letter T.[1] This is typically observed in DES-exposed women.[2] It is recognised in the ESHRE/ESGE classification,[3] and is associated with failed implantation, increased risk of ectopic pregnancy, miscarriage and preterm delivery. There is a surgical procedure to correct the malformation.[4]

Definition / general

Most common subtype of vaginal adenocarcinoma associated with DES exposure in young females; can also occur in postmenopausal women without exposure to DES

Terminology

Mesonephroid carcinoma, mesonephric carcinoma (Cancer 1970;25:745)

Epidemiology

Rare vaginal cancer, accounting for 5% to 10% of primary vaginal malignancies (J Minim Invasive Gynecol 2006;13:237)

Bimodal age distribution, mean age 22 years (Gynecol Oncol 1996;60:339) in women with exposure to DES and 55 years in postmenopausal women with no history of DES, but who may have pelvic endometriosis (J Minim Invasive Gynecol 2006;13:237, Gynecol Oncol 2006;103:1130)

Sites

Most common - anterior vaginal wall (Gynecol Oncol 1993;51:266, Gynecol Oncol 2007;105:273); can also occur in elsewhere in vagina

Pathophysiology

DES causes persistence of Müllerian epithelium while inducing contact between epithelium and the vaginal mesenchyme

Unopposed estrogen and obesity causes increase in the peripheral conversion of steroid hormones to estrone by the enzyme aromatase leading to a hyperestrogenic environment (Gynecol Oncol 2006;103:1130)

Etiology

Most cases occur among women born 1947 through 1971, when pregnant women were most frequently prescribed DES in the United States (Cancer Causes Control 2012;23:207, Gynecol Oncol 1996;60:339)

70% occur in women having intrauterine exposure to DES - also known as DES daughters (Gynecol Oncol 1996;60:339, Gynecol Oncol 2007;105:273, Gynecol Oncol 1993;51:266, Cancer Causes Control 2010;21:999)

Endometriosis of vagina and perivaginal area may be a precursor in non-DES exposed females; the frequency of vaginal tumors arising in endometriosis ranges from 4% - 11% (Gynecol Oncol 2006;103:1130, J Minim Invasive Gynecol 2006;13:237)

Vaginal adenosis (especially tuboendometrial adenosis) is associated with CCA (clear cell adenocarcinoma) in 90% of cases, suggesting adenosis is a precursor lesion (J Obstet Gynaecol Res 2010;36:681, Adv Anat Pathol 2012;19:296, Gynecol Oncol 1993;51:266)

Clinical features

Abnormal vaginal bleeding or discharge, although 16 - 25% are asymptomatic (Gynecol Oncol 2007;105:273)

Postmenopausal bleeding (Gynecol Oncol 2006;103:1130, J Minim Invasive Gynecol 2006;13:237)

Congenital anomalies of GU tract without DES exposure: associated with metanephric and mesonephric remnants and Mü¸llerian duct anomalies (J Obstet Gynaecol Res 2010;36:681, J Pak Med Assoc 2009;59:568)

Lymphatic and vascular spread can occur (J Minim Invasive Gynecol 2006;13:237)

Can metastasize to regional lymph nodes (J Minim Invasive Gynecol 2006;13:237), lungs (Gynecol Oncol 1993;51:266, Gynecol Oncol 2007;105:273, J Minim Invasive Gynecol 2006;13:237), kidney (Gynecol Oncol 1993;51:266), peritoneum, omentum, ovary, liver and brain (Gynecol Oncol 2007;105:273)

Can present with malignant pericardial effusion and cardiac tamponade (Int J Gynecol Cancer 2006;16:1458)

May recur in distant sites even in absence of pelvic disease (Gynecol Oncol 1993;51:266)

Women exposed to DES in utero (DES daughters) also have increased risk of clear cell adenocarcinoma persisting at older ages and an increased risk of melanoma at young ages, no increased risk of other cancers (Cancer Causes Control 2010;21:999)

Prognostic factors

Biologic behavior and prognosis differ from squamous cell carcinoma:

Better 5 year survival of localized vaginal CCA but greater risk of developing late recurrences after disease free interval; recurrences can occur 2 years to 8 years later (Gynecol Oncol 1993;51:266, Gynecol Oncol 2007;105:273)

Non-DES exposed patients may have poorer prognosis compared with DES exposed individuals (J Minim Invasive Gynecol 2006;13:237)

Diethylstilbestrol (DES), also known as stilbestrol or stilboestrol, is a nonsteroidal estrogen medication, which is rarely used.[5][6][7] In the past, it was widely used for a variety of indications, including pregnancy support for women with a history of recurrent miscarriage, hormone therapy for menopausal symptoms and estrogen deficiency in women, treatment of prostate cancer in men and breast cancer in women, and other uses.[5] By 2007, it was only used in the treatment of prostate cancer and breast cancer.[8] In 2011, Hoover and colleagues reported on adverse health outcomes linked to DES including infertility, miscarriage, ectopic pregnancy, preeclampsia, preterm birth, stillbirth, infant death, menopause prior to age 45, breast cancer, cervical cancer, and vaginal cancer.[9] In 2020 the GoodRx and Walgreens’ sites do not list diethylstilbestrol.[10][11] While most commonly taken by mouth, DES was available for use by other routes as well, for instance, vaginal, topical, and by injection.

Question 112

marked enlargement of uterus

Answer 112

adenomyosis

Question 113

adenomyosis

Answer 113

thickening of junctional zone (>12 mm)

Question 114

Wolffian duct remnant

Answer 114

Gartner duct cyst

Gartner duct cyst

Dr Ayla Al Kabbani◉ and Radswiki◉ et al.

Gartner duct cysts develop from embryologic remnants of the Wolffian (mesonephric) duct. They are often noticed incidentally on ultrasound or MRI.

Clinical presentation

They may cause mass effect on adjacent structures.

Pathology

Location

Gartner duct cysts are located in the anterolateral wall of the proximal (superior) portion of the vagina 2 and are typically located above the level of the most inferior aspect of the pubic symphysis.

Histology

Like other cysts, they are lined with non-mucinous cuboidal or columnar epithelium.

Associations

Gartner duct cysts most often are isolated findings, but can also be associated with abnormalities of the metanephric urinary system or in Herlyn-Werner-Wunderlich syndrome 4-7

renal agenesis 7

ipsilateral renal dysplasia 6

cross fused ectopia 5

Radiographic features

Typically, they are simple cystic lesions arising from the anterolateral aspect of the superior vagina. They are usually small (<2 cm) although occasionally they can become very large (up to several centimetres) 3.

Complications

In rare cases with larger cysts, dyspareunia and problems in obstetric delivery have been described 3.

Differential diagnosis

General imaging differential considerations include:

Bartholin gland cyst: their location at or below the level of the pubic symphysis and usually arising from posterolateral wall of the vagina; this helps to differentiate them from Gartner duct cysts

urethral diverticulum: located around the urethra

Question 115

theca lutein cysts

Answer 115

moles and multiple gestations

Theca lutein cyst

Dr Andrew Nanapragasam and Dr Yuranga Weerakkody◉ et al.

Theca lutein cysts (TLC), also known as hyperreactio luteinalis (HL), are a type of functional ovarian cysts. They are typically multiple and seen bilaterally.

Pathology

They are thought to originate due to excessive amounts of circulating gonadotrophins such as beta-hCG. Hyperplasia of the theca interna cells is the predominant characteristic on histology. The ovarian parenchyma is often markedly oedematous and frequently contains foci of luteinized stromal cells.

Associations

they have a very high association with gestational trophoblastic disease.

Other reported associations include:

multifetal pregnancy 4

polycystic ovarian syndrome (PCOS)

diabetes mellitus

clomiphene intake

ovulation induction

rarely

pregnancy with background chronic renal failure 2

normal uncomplicated pregnancy 5

Radiographic features

The clinical context is vital in correct imaging interpretation.

General

The cysts are usually large (2-3 cm) and the ovaries often have a typical multilocular cystic appearance across all imaging techniques 4.

Ultrasound

Bilateral enlarged, multicystic ovaries. The cysts are classically thin walled and have clear contents. There is large amount of solid component which is possibly the residual ovarian stroma.

MRI

Typically seen as bilateral (occasionally unilateral) ovarian enlargement with multiple cysts which are generally of uniform size.

The residual parenchyma within the enlarged ovaries have been reported to show 6

T1 C+ (Gd): intense contrast enhancement

T2: intermediate signal intensity

DWI: high signal

Treatment and prognosis

Following evacuation of a molar pregnancy, the associated theca lutein cysts resolve by 2-4 months.

There are cases reported of nomal pregnancies associated with hyperreactio leutinalis which have resolved gradually post delivery.

Surgical emergency is only if ovarian torsion occurs.

Differential diagnosis

For large multiple bilateral ovarian cysts consider

ovarian hyperstimulation syndrome: can also be an association

often has a history of ovulation induction

may have free pelvic fluid

mucinous ovarian malignancy

a more solid component may be present noted

ovarian tumour markers +/- beta HCG levels may be elevated ref required

Question 116

theca lutein cysts + pleural effusions

Answer 116

hyperstimulation syndrome (fertility meds)

Question 117

low level internal echoes

Answer 117

endometrioma

Question 118

T2 shortening

Answer 118

endometrioma - “shading sign”

Question 119

fishnet appearance

Answer 119

hemorrhagic cyst

Question 120

ovarian fibroma + pleural effusion

Answer 120

Meigs syndrome

Question 121

snow storm uterus

Answer 121

complete mole - 1st trimester

Question 122

serum B-hCG levels rise in 8-10 weeks following evacuation of molar pregnancy

Answer 122

choriocarcinoma

Question 123

midline cystic structure near back of bladder of male

Answer 123

prostatic utricle

Prostatic utricle cyst

Dr Mostafa El-Feky◉ and Radswiki◉ et al.

Prostatic utricle cyst (or utricular cyst) (PUC) is an area of focal dilatation that occurs within the prostatic utricle.

They are midline cystic masses in the male pelvis and can be very difficult or impossible to distinguish from a Mullerian duct cyst.

Epidemiology

Utricle cysts are most often detected in the 1st and 2nd decades of life (Mullerian duct cysts usually occur in the 3rd and 4th decades).

The incidence of prostatic utricle cyst ranges around 11-14% in association with hypospadias or intersex anomalies and up to 50% in the presence of perineal hypospadias 3.

Clinical presentation

Clinical presentation is variable and includes pelvic mass, obstructive and irritative urinary tract symptoms, haematuria, and suprapubic or rectal pain.

Urine may pool in utricle cysts, since they communicate with the urethra, occasionally resulting in post-void dribbling. Some patients may be asymptomatic.

Pathology

Prostatic utricle cysts always arise from the level of the verumontanum and are always in the midline. Mullerian duct cysts can arise anywhere along the path of Mullerian duct regression, from scrotum to utricle.

Utricle cysts are variable in size but are usually smaller (commonly <10 mm) than Mullerian duct cysts and usually do not extend above the prostate gland (Mullerian duct cysts typically extend above the prostate gland).

Associations

Association of prostatic utricle cysts with a variety of genitourinary abnormalities is recognised and include:

hypospadias

cryptorchidism

unilateral renal agenesis

Mullerian duct cysts have no such associations 1.

Radiographic features

MRI

Seen as midline prostatic cyst.

Complications

utricle cysts may contain pus or haemorrhage if infected

utricle cysts may contain cancer (e.g. clear cell carcinoma, or squamous cell carcinoma) with a reported prevalence as high as 3%

Differential diagnosis

Mullerian duct cyst

See also

cystic lesions of the prostate

Question 124

lateral cystic structure near back of bladder of male

Answer 124

seminal vesicle cyst

Well-defined hyperdense mass (HU = 50) sitting behind the bladder in the region of the right seminal vesicle. Note absent right kidney and hypertrophied left kidney.

The US confirms an echolucent lesion behind the bladder with posterior acoustic enhancement indicative of a cyst. Note no blood flow on colour Doppler analysis. No kidney in the right renal fossa.

Case Discussion

These seminal vesicle cysts occur as a result of maldevelopment in the distal mesonephric duct and absence of the ureteric bud. This causes renal agenesis and obstruction to the seminal vesicle and secondary cyst formation due to atresia of the ejaculatory duct.

Seminal vesicle cyst

Dr Yuranga Weerakkody◉ and Dr Avni K P Skandhan◉ et al.

Seminal vesicle cysts can be congenital or acquired.

Epidemiology

Age of presentation of congenital cysts is during the period of greatest reproductive activity i.e in second and third decades of life, while acquired cysts are most often seen in the elderly age group.

Clinical presentation

Smaller cysts may be detected incidentally. In symptomatic patients, the usual presenting features include perineal pain, abdominal pain, ejaculatory pain, dysuria, haematuria, increased frequency of micturition, urinary tract infections and infertility.

Pathology

Aetiology

Congenital

Congenital cysts occur due to insufficient drainage as a result of atresia of the ejaculatory ducts causing distension of seminal vesicles and further leading to the formation of a cyst. They usually become symptomatic in young adulthood due to the accumulation of secretions. These cysts are mostly unilateral with no predilection for the side of involvement.

Congenital cysts are associated with many other urogenital anomalies:

renal agenesis or dysgenesis 1

ectopic insertion of ureter into seminal vesicle, ductus deferens, ejaculatory duct or prostatic urethra

ductus deferens agenesis

Zinner syndrome

Acquired

Acquired cysts are seen most often secondary to prostatic infection or surgery causing scarring and finally obstruction of the drainage of secretions. This is seen most often bilaterally.

obstruction by benign prostatic hypertrophy

chronic infection and scarring of the seminal vesicle or ejaculatory duct

prior prostate surgery

autosomal dominant polycystic kidney disease 5

Radiographic features

Seminal vesicles appear normal or enlarged in size with presence of cysts within.

Ultrasound

These can be imaged by transabdominal ultrasound and are best evaluated by transrectal ultrasound. The cysts may be anechoic or may contain internal debris from haemorrhage or infection.

CT

Larger cysts may be seen on CT. The cysts may be seen as well defined, low attenuation lesions or thick and irregular walled cysts with hyperdense contents in cases of secondary haemorrhage or infection. These lesions are classically located in the retro-vesicular region and cephalic to prostate. The associated renal anomalies can be depicted well.

MRI

Best in differentiating cystic pelvic lesions. Abdominal and pelvic anatomy can also be assessed. Classical appearance of cysts is maintained with low T1 and high T2 weighted signal intensity. Some seminal vesicle cysts may have high T1 and T2 signals probably due to proteinaceous contents or haemorrhage.

Treatment and prognosis

Depending on the size of the seminal vesicle cyst, surgery may be helpful.

Differential diagnosis

Other causes of male pelvic cystic masses can be included as a differential diagnosis.

Müllerian duct cyst - seen in the midline

ejaculatory duct cyst - seen in the midline

prostatic cysts

diverticulosis of ampulla of vas deferens - lateral in location

ectopic ureterocele

bladder diverticulosis

Question 125

isolated orchitis

Answer 125

mumps

Question 126

onion skin appearance

Answer 126

epidermoid cyst

Question 127

multiple hypoechoic masses in testicle

Answer 127

lymphoma

Question 128

cystic elements and macro-calcifications in testicle

Answer 128

mixed germ cell tumor

Question 129

homogeneous testicular mass and microcalcifications

Answer 129

seminoma

Question 130

gynecomastia + testicular tumor

Answer 130

Sertoli Leydig

Question 131

fetal macrosomia

Answer 131

maternal diabetes

Question 132

one artery adjacent to the bladder

Answer 132

two-vessel cord

Question 133

painless vaginal bleeding in 3rd trimester

Answer 133

placenta previa

Question 134

mom doing cocaine

Answer 134

placental abruption

Question 135

thinning of myometrium with turbulent Doppler

Answer 135

placenta acreta

Question 136

mass near cord insertion with flow pulsating at fetal heart rate

Answer 136

placental chorioangioma

Question 137

cystic mass posterior neck - antenatal period

Answer 137

cystic hygroma

Question 138

pleural effusions and ascites on prenatal US

Answer 138

hydrops

Question 139

massively enlarged bilateral kidneys

Answer 139

ARPKD

Question 140

twin peak sign

Answer 140

dichorionic diamniotic

Question 141

obliteration of Raider’s triangle

Answer 141

aberrant right subclavian

Question 142

flat waist sign

Answer 142

left lower lobe collapse

Question 143

terrorist + mediastinal widening

Answer 143

Anthrax

Question 144

bulging fissure

Answer 144

Klebsiella

Question 145

dental procedure gone bad now with jaw osteo and pneumonia

Answer 145

Actinomycosis

Question 146

culture-negative pleural effusion 3 months later with airspace opacity

Answer 146

TB

Question 147

hot tub

Answer 147

hypersensitivity pneumonitis

Question 148

halo sign

Answer 148

fungal pneumonia - invasive Aspergillus

Question 149

reverse halo or atoll sign

Answer 149

COP

Question 150

finger-in-glove

Answer 150

ABPA

Finger in glove sign (lung)

Cystic fibrosis complicated by allergic bronchopulmonary aspergillosis

Case contributed by Radiopaedia admin

Diagnosis certain

Presentation

Paediatric patient with known cystic fibrosis presents with worsening cough. On examination, there was reduced air entry in the right upper lobe.

There is nodular dense opacification in a finger-in-glove configuration overlying the right hilum and extending into the right upper lobe. This is likely to represent a combination of hilar lymphadenopathy and infective consolidation/bronchial plugging. In addition, there is perihilar consolidation on the left.

4 case questions available

Case Discussion

Atopic patients are predisposed to allergic bronchopulmonary aspergillosis (ABPA) through defective immuno-regulation. Both asthma and cystic fibrosis are strongly associated with atopy. Presenting symptoms raising the possibility of ABPA in these patient groups include worsening respiratory symptoms, low-grade fever, weight loss and malaise.

Dr Yuranga Weerakkody◉ and Dr Jeremy Jones◉ et al.

The finger in glove sign can be seen on either a chest radiograph or CT chest and refers to the characteristic sign of a bronchocoele. The same appearance has also been referred to as:

rabbit ear appearance

mickey mouse appearance

toothpaste-shaped opacities

Y-shaped opacities

V-shaped opacities

Pathology

Aetiology

Obstructive

In bronchial obstruction, the portion of the bronchus distal to the obstruction is dilated with the presence of mucous secretions (mucus plugging). Causes of bronchial obstruction include:

bronchial hamartoma

bronchial lipoma

bronchial carcinoid

bronchogenic carcinoma

congenital bronchial atresia (rarely)

Non-obstructive

Causes include 4:

asthma

allergic bronchopulmonary aspergillosis (ABPA)

cystic fibrosis

Question 151

septic emboli + jugular vein thrombosis

Answer 151

Lemierre Syndrome

CASE:

Lemierre’s syndrome: septic internal jugular thrombophlebitis secondary to pharyngitis

Case contributed by Dr Mohammad A. ElBeialy◉

Diagnosis certain

Presentation

Acute swelling of the right arm with neck swelling and pain.

Thrombosis of the right internal jugular vein evidenced by its distended calibre, enhancing wall and intraluminal low attenuation filling defects as well as thrombosis of the right brachiocephalic vein, the right subclavian and axillary veins with consequent multiple paravertebral collateral venous channels noted.

Overt peri-vascular relative hypoattenuating density with inflammatory soft tissue tumefaction is seen involving the right carotid space, posterior cervical space, right aspect of the visceral space and supra and infra retropharyngeal space with marginally enhancing hypodense collection. The lesion is noted compressing the right thyroid cartilage and trachea to the contralateral side, effacing the right parapharyngeal fat planes, it is extending anteriorly to encase the right lateral aspect of the anterior jugular vein and laterally being inseparable from the right sternocleidomastoid muscle.

Normal course and calibre of both carotid arteries as well as left jugular vessels. Normal superior vena cava. Bilateral multiple enlarged lymph nodes are seen at the submental and both submandibular and internal jugular chains groups bilaterally.

Case Discussion

Acute thrombosis of the right internal jugular and right brachiocephalic vein, right subclavian and axillary veins with inflammatory peri-vascular and neck spaces hypoattenuating lesion and collection as well as a small retropharyngeal marginally enhancing collection (likely an abscess / pseudo-abscess) as described consistent with septic thrombosis of the internal jugular vein (Lemierre’s syndrome).

Lemierre’s syndrome refers to the purulent or septic thrombophlebitis of the internal jugular vein as a complication of pharyngitis. Lemierre’s disease could be even further complicated by distant metastatic abscesses in the lungs with septic pulmonary emboli, brain abscesses or elsewhere (septic arthritis can lead to acute osteomyelitis).

Lemierre syndrome

Dr Mostafa El-Feky◉ and Assoc Prof Frank Gaillard◉◈ et al.

Lemierre syndrome (also known as postanginal septicaemia) refers to thrombophlebitis of the internal jugular vein(s) with distant metastatic sepsis in the setting of initial oropharyngeal infection such as pharyngitis/tonsillitis with or without peritonsillar or retropharyngeal abscess.

Epidemiology

Since the advent of antibiotics, the incidence of Lemierre syndrome has reduced significantly, now affecting between 0.6-2.3 per million people. There is a male predominance, with 70% of patients between the ages of 16 and 25 years.

Clinical presentation

Patients typically present unwell, with trismus and pain behind the angle of the jaw. Neck swelling may be evident. Bacteraemia and distal infective thromboembolism are common (lungs most commonly affected, however almost any organ may be involved 4). A significant proportion of patients (13% to 27%) will require diagnostic arthrocentesis due to symptoms of septic arthritis. Meningitis has also been shown to complicate up to 3% of cases 8.

Pathology

An anaerobic Gram-negative bacillus, Fusobacterium necrophorum, is responsible for a majority (80%) of cases and gives rise to the term necrobacillosis 1. In up to one-third of patients polymicrobial bacteraemia is demonstrated, anaerobic streptococci and other miscellaneous gram-negative anaerobes are also found frequently 8. Reports contain meticillin-resistant Staph. aureus (MRSA) as well 9.

Radiographic features

The growth of characteristic anaerobic bacteria from blood culture may be a key finding but takes too much time. Depicting internal jugular vein thrombophlebitis is often the first diagnostic clue. Contrast-enhanced CT is considered gold-standard. Cases with isolated thrombophlebitis of tributaries of the internal jugular vein, e.g. common facial vein, have been described 2.

A high degree of suspicion in the appropriate clinical setting is essential for diagnosis.

Ultrasound

Ultrasound may show hyperechoic thrombus within the internal jugular vein or other neck or facial veins. Spectral Doppler of a patent vessel may show loss of respiratory phasicity and cardiac pulsatility. This indicates the presence of a more proximal thrombus not accessible sonographically. The limitations of grey-scale ultrasound are well-described in literature. Imaging with colour Doppler may overcome some of these shortcomings. The underlying site of infection is frequently not depicted.

Nonetheless, the identification of thrombophlebitis of the internal jugular vein is the first hard evidence to suggest Lemierre’s syndrome in many patients 8.

CT/MRI

Many authors consider CECT as the imaging study of choice due to availability and its allowance for visualisation of complications and underlying infection 6-8. Both modalities may with a high grade of confidence:

show an intraluminal filling defect in the jugular venous wall, frequently superior to ultrasound due to better assessment of deeper venous segments

depict sites of septic emboli, most often encountered as pulmonary septic emboli (most commonly, see above), more readily visualised by CT

depict the site of primary infection

Treatment and prognosis

If unrecognised and untreated, systemic dissemination can occur with a dismal prognosis; studies from the modern era still report mortality rates as high as 18% 8. Treatment is usually with anticoagulation, intravenous antibiotics and potentially surgically drainage for non-resolving abscesses.

History and etymology

It is named after Andre Lemierre (1875–1956) 11, a French bacteriologist who described the typical features of the disease in 1936 3. However Courmont and Cade first described the condition in 1900 as “human necrobacillosis” 11.

Question 152

Lemierre

Answer 152

Fusobacterium necrophorum

Lemierre Syndrome: A Forgotten Disease

September 18, 2015

Naveen K Voore, MD , Vincent J Stravino, MD

Symptoms closely resemble “strep” throat but suspicion for Lemierre should run high when pharyngitis and fever persist.

Fig 1. Chest x-ray shows cavitary lesions in both lung fields.

Fig 2. CT neck, sagital view shows thrombus in left internal jugular vein.

Fig 3. CT neck, coronal view shows thrombus in left internal jugular vein.

Fig 4. CT neck; thrombus in left internal jugular vein.

Fig 5.Chest x-ray; air-fluid-filled cavitary lesions bilaterally.

Fig 6.CT chest; cavitary lesions bilaterally.

A 20-year-old woman with no significant past medical history presents with sore throat, body aches, and high-grade fevers of two weeks’ duration. For the past week, she has experienced intermittent right-sided pleuritic chest pain, neck pain, and mild dry cough. She has never smoked and denied any recent travel or exposure to any sick contacts. On physical examination, her temperature was 39.6°C (103.4°F), heart rate, 108 beats/min, blood pressure 108/76 mm Hg, and O2 saturation, 94% on room air. Pertinent positive findings on physical examination were, slight induration around anterior aspect of the neck and palpable posterior cervical lymph nodes. She also had significant pharyngeal erythema and bilateral crackles in the lower lung fields upon auscultation.

Laboratory evaluation showed WBC of 28,000/cm3 with left shift and thrombocytopenia. Results of rapid strep and mono spot tests were negative and blood cultures were drawn. Initial chest x-ray showed multifocal nodular infiltrates suspicious for septic emboli (Figure 1, click to enlarge). She was admitted to ICU for presumed sepsis and was treated with vancomycin and piperacillin-sulbactam (Zosyn).

Later, a CT scan of the neck was performed. Results showed mild nonspecific thickening of the left tonsillar pillar and a thrombus in left internal jugular vein (Figures 2, 3, and 4, click to enlarge).

On hospital day three, her chest x-ray and CT scan of the chest showed multiple cavitary lesions bilaterally consistent with septic emboli throughout both lung fields (Image 5, 6, click to enlarge). Subsequently blood cultures were positive for Fusobacterium necrophorum. A diagnosis was made of Lemierre syndrome and her antibiotic course was changed to ampicillin-sulbactam. The patient improved significantly and was discharged to home a week later.

Lemierre Syndrome, first described by Andre Lemierre in 1936, is a rare form of disseminated septic thrombophlebitis. The syndrome is characterized by super infection with Fusobacterium necrophorum, jugular vein thrombosis, and distant septic emboli.1 Healthy young adults are at a higher risk for this infection and have a significant mortality rate. The organism is a part of the normal oral flora and alteration of the immune system related to primary viral or bacterial infection may lead to super infection with Fusobacterium necrophorum in the pharyngeal or parapharyngeal region. The infection can progress via breakdown of the mucosal barrier to involve the carotid sheath by local invasion.2 This may allow for septic thrombophlebitis in the internal jugular vein3 which can lead to septic emboli primarily in the lungs4 and, rarely, the liver and spleen.

Clinical suspicion should be high for this syndrome in patients with antecedent pharyngitits, persistent fevers, and septic pulmonary emboli. Blood cultures and imaging studies such as ultrasound and CT scan with intravenous contrast play a crucial role in confirming the diagnosis. Early treatment with appropriate antimicrobial agents would prevent significant morbidity and mortality. The actual duration of therapy is not clearly defined in literature.5

https://www.patientcareonline.com/view/lemierre-syndrome-forgotten-disease

Question 153

paraneoplastic syndrome with SIADH

Answer 153

small cell lung CA

Small cell lung cancer (SCLC) is a highly aggressive form of pulmonary malignancy which accounts for 15–20% of lung cancer cases [1]. SCLC is well known for its rapid doubling time, tendency to metastasize, and its affinity for relapsing. Nearly 60–70% of patients with SCLC present with disseminated disease [1], and early diagnosis improves outcomes. Typical presentations include cough, dyspnea, and weight loss. However, SCLC can present in more atypical ways.

Paraneoplastic syndromes such as syndrome of inappropriate antidiuretic hormone secretion (SIADH), Lambert-Eaton myasthenic syndrome, hypercalcemia, and Cushing’s syndrome are some atypical presentations. Up to 10% of patients with lung cancer develop a paraneoplastic syndrome during the course of their disease progression [2]. An even smaller number of patients have paraneoplastic syndromes as their presenting feature. It is therefore not surprising that abnormal laboratory values can be misinterpreted as isolated findings when there is no obvious evidence of malignancy.

SCLC has almost an exclusive association with cigarette smoking. In one study, smoking was associated in 100 and 97.9% of cases in men and women, respectively [3]. With this strong of a relationship, SCLC should be considered in current and past smokers with evidence of abnormal laboratories or symptoms consistent with paraneoplastic syndromes. The following case depicts how identifying a paraneoplastic syndrome helped uncover an underlying SCLC and improve one patient’s prognosis.

https://bmcpulmmed.biomedcentral.com/articles/10.1186/s12890-018-0729-y

Question 154

paraneoplastic syndrome with Parathyroid hormone

Answer 154

squamous cell CA

Question 155

small cell lung CA + proximal weakness

Answer 155

Lambert-Eaton

Lambert-Eaton myasthenic syndrome

Dr Hamish Smith◉ and Dr Henry Knipe◉◈ et al.

Lambert-Eaton myasthenic syndrome (LEMS) is a rare neuromuscular junction disorder of paraneoplastic or primary autoimmune aetiology.

Epidemiology

LEMS is the second most common neuromuscular junction disease after myasthenia gravis.

Two-thirds of LEMS present as a paraneoplastic syndrome secondary to malignancy, most commonly lung cancer, less commonly breast, ovarian and pancreatic cancer and lymphoma.

Clinical presentation

The most common clinical feature is progressive proximal leg weakness. Deep tendon reflexes are almost always decreased. A less prominent but characteristic feature is autonomic dysfunction, most commonly dry mouth. Less common features include oropharyngeal and ocular symptoms related to weakness, such as dysphagia, dysarthria, ptosis, and diplopia.

The diagnosis is confirmed by electrodiagnostic studies and serology. Specifically, repetitive nerve stimulation demonstrates an increase in compound muscle action potential after increasing the stimulation frequency or after exercise, a phenomenon known as postactivation facilitation. Antibodies against the P/Q-type voltage-gated calcium channel are relatively specific for the diagnosis.

Radiographic features

A diagnosis of LEMS should prompt a search for an underlying malignancy, at least including chest CT, with additional consideration of FDG-PET 4,5. These studies most commonly reveal a tumour corresponding to small cell lung carcinoma.

Question 156

cavity fills with air post pneumonectomy

Answer 156

bronchopleural fistula

Question 157

malignant bronchial tumor

Answer 157

carcinoid

Question 158

malignant tracheal tumor

Answer 158

adenoid cystic

Question 159

AIDS patient with lung nodules pleural effusion and LAD

Answer 159

lymphoma

Question 160

gallium negative

Answer 160

Kaposi

Question 161

thallium negative

Answer 161

PCP

Question 162

macroscopic fat and popcorn calcifications

Answer 162

hamartoma

Question 163

bizarre-shaped cysts

Answer 163

LCH

Question 164

lung cysts in a TS patiennt

Answer 164

LAM

Question 165

panlobular emphysema NOT alpha-1

Answer 165

ritalin lung

Question 166

honeycombing

Answer 166

UIP

Question 167

histology was heterogeneous

Answer 167

UIP

Question 168

ground glass with subpleural sparing

Answer 168

NSIP

Question 169

UIP lungs + parietal pleural thickening

Answer 169

asbestosis

Question 170

cavitation in the setting of silicosis

Answer 170

TB

Question 171

air trapping seen 6 months after lung transplant

Answer 171

chronic rejection/bronchiolitis obliterans syndrome

Question 172

crazy paving

Answer 172

PAP

Question 173

hx constipation

Answer 173

lipoid pneumonia (inferring mineral oil use/aspiration)

Question 174

UIP + air trapping

Answer 174

chronic hypersensitivity pneumonitis

Question 175

dilated esophagus + ILD

Answer 175

scleroderma (with NSIP)

Question 176

shortness of breath when sitting up

Answer 176

hepatopulmonary syndrome

Question 177

episodic hypoglycemia

Answer 177

solitary fibrous tumor of pleura

Question 178

pulmonary HTN with normal wedge pressure

Answer 178

pulmonary veno-occlusive disease

Question 179

yellow nails

Answer 179

Lymphedema and chylous pleural effusions (Yellow Nail Syndrome)

Yellow nail syndrome: a review

Stéphane Vignes &

Robert Baran

Orphanet Journal of Rare Diseases volume 12, Article number: 42 (2017) Cite this article

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Abstract

Yellow nail syndrome (YNS; OMIM 153300, ORPHA662) is a very rare disorder that almost always occurs after 50 years of age but a juvenile or familial form has also been observed. YNS is diagnosed based on a triad associating yellow nail discoloration, pulmonary manifestations (chronic cough, bronchiectasia, pleural effusion) and lower limb lymphedema. Chronic sinusitis is frequently associated with the triad. YNS etiology remains unknown but a role of lymphatic impairment is usually evoked. YNS is more frequently isolated but may be associated in rare cases with autoimmune diseases, other clinical manifestations implicating lymphatic functions or cancer and, hence, is also considered a paraneoplastic syndrome. YNS management is symptomatic and not codified. YNS can resolve spontaneously. Oral vitamin E alone or even better when associated with triazole antifungals may achieve partial or total disappearance of nail discoloration. Pleural effusion can be treated surgically, with decortication/pleurectomy or pleurodesis. Antibiotic prophylaxis is prescribed for bronchiectasia with chronic sputum production. Lymphedema treatment is based on low-stretch bandages and the wearing of elastic compression garments combined with skin care, exercises and, as needed, manual lymph drainage.

Definition

YNS is characterized by a triad of thickened yellow nails, primary lymphedema and respiratory manifestations. It is an acquired condition of unknown etiology. It is a syndrome – not a disease – that is associated with conditions as different as diseases implicating the lymphatic system, autoimmune diseases or cancers. Whereas Samman & White’s first description of YNS included only nail discoloration, Emerson added pleural effusion to the diagnostic criteria [3]. Among the three clinical YNS characteristics (yellow nail syndrome, respiratory tract involvement, lymphedema), only two are required to diagnose YNS but it is difficult to call the entity YNS without nail abnormality [4]. Moreover, the three components are not necessarily present simultaneously, and may appear individually and sequentially, thereby making YNS diagnosis difficult. The complete triad is present only in 27–60% of the patients [5–10] (Table 1). The percentage differences of a given clinical manifestation may be attributed to the medical specialty that recruited the patients.

Pulmonary manifestations

Lung involvement in YNS, which occurred in 56–71% of the patients, diversely affected some parts of the respiratory tract with a variety of clinical manifestations [6–8]. Chronic cough is the most frequent pulmonary manifestation seen in 56% of YNS patients [6], with pleural effusions found in 14–46% of the patients [6, 7].

Based on their retrospective systematic review of more than 150 patients described in publications identified with the search terms “pleural effusion” and “YNS”, Valdés et al. recently reported the characteristics of these pleural effusions [32]: 68.3% were bilateral; the fluid appeared serous in 75%, milky (chylothorax) in 22% and purulent (empyemas) in 3.5%; 95% of effusions were described as exudates (median protein level: 4.2 g/dl) and 5% as transudates that harbored a median nucleated cell count of 1540 cells/mm3 with 96% lymphocytic predominance.

However, sputum bacteria (Pseudomonas aeruginosa, Haemophilus influenzae, Streptococcus pneumoniae, Moraxella catarrhalis) are the same in idiopathic and YNS-associated bronchiectasias [33]. Recurrent pneumonias occur in 22% of the patients. Also, bilateral apical fibrosis, patchy alveolar infiltrates and cystic lesions are very rarely observed in YNS patients [33, 34].

YNS patients’ pulmonary function test results are usually normal or may indicate a moderate-to-severe restrictive syndrome attributable to pleural effusions [4]. Extremely rare patients may have mixed obstructive–restrictive syndrome or decreased diffusion capacity [6]. Histological examination of pleural biopsies revealed normal morphology or that of chronic fibrosing pleuritis, and did not provide any further information; biopsies are usually not contributive [32]. Bronchiectasias are present in 44%. Chest computed-tomography (CT) scan is the best imaging technique to diagnose bronchiectasia, which, in YNS patients, is significantly less extensive, severe and with lower bronchial wall thickness scores than in matched idiopathic bronchiectasia patients [33].

https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0594-4

Question 180

persistent fluid collection after pleural drain/tube placement

Answer 180

extrapleural hematoma

Extrapleural haematoma

Assoc Prof Craig Hacking◉◈ and Dr Yuranga Weerakkody◉ et al.

Extrapleural haematomas are uncommon and usually seen in the context of rib fracture, subclavian venous catheter traumatic insertion, and blunt chest injury.

Pathology

Extrapleural haematomas result from the accumulation of blood in the extrapleural space where the overlying extrapleural fat is displaced centrally.

Aetiology

injury to intercostal arteries or veins in the setting of trauma

traumatic insertion of a subclavian central venous catheter or intercostal catheter

less commonly, from other vessels such as aortic rupture

Radiographic features

Plain radiograph

When located laterally, an extrapleural haematoma may cause the typical peripheral pleural opacity which has smooth borders with the pleura without acute angles. When anterior or posterior, the frontal X-ray will just show non-specific opacification.

CT

May show a focal extrapleural collection in the appropriate clinical context with an extrapleural fat sign. They may be biconvex or nonconvex, with the former being larger.

Treatment and prognosis

Biconvex extrapleural haematomas more often require surgical intervention, while non-convex haematomas are usually be managed conservatively 4.

Question 181

displaced extrapleural fat

Answer 181

extrapleural hematoma

Question 182

massive air leak in the setting of trauma

Answer 182

bronchial or tracheal injury

Question 183

hot on PET - around periphery

Answer 183

pulmonary infarct

Question 184

multi-lobar collapse

Answer 184

sarcoid

Question 185

classic bronchial infection

Answer 185

TB

Question 186

panbronchiolitis

Answer 186

tree-in-bud (not centrilobular or random nodules)

Question 187

bronchorrhea

Answer 187

mucinous BAC

Question 188

ALCAPA

Answer 188

Steal Syndrome

Anomalous left coronary artery from the pulmonary artery (ALCAPA)

Case contributed by Dr Vincent Tatco

Diagnosis certain

Presentation

Easy fatigability. Echocardiography showed dilated coronary arteries suspicious for coronary fistula.

The coronary arteries are tortuous and dilated. The right coronary artery arises from the anterior coronary sinus of the aortic root. The left main coronary artery arises from the main pulmonary artery. The left anterior descending and circumflex coronary arteries arise from the left main coronary artery. Multiple collaterals are seen. There is reflux of contrast from the left main coronary artery into the main pulmonary artery suggestive of reversal of flow. No significant stenosis or coronary fistula identified in this examination.

Overall findings are consistent with an anomalous left coronary artery from the pulmonary artery (ALCAPA).

Case Discussion

Anomalous left coronary artery from the pulmonary artery (ALCAPA), also known as Bland-White-Garland syndrome, is a rare coronary artery anomaly that affects 1 in 300,000 live births 1. ALCAPA arises from either abnormal septation of the aorta and the pulmonary artery or from the persistence of aortic buds that form the coronary arteries 2. It can occur as an isolated anomaly or in conjunction with other lesions such as atrial septal defect, ventricular septal defect and coarctation of the aorta 3.

In fetal life, the pulmonary artery pressure equals systemic pressure, allowing for satisfactory myocardial perfusion from the pulmonary artery through the anomalous coronary artery. After birth, the pulmonary artery contains desaturated blood at a pressure that rapidly falls below systemic pressure. As pulmonary arterial pressure drops, the combination of low flow and desaturated blood causes myocardial ischaemia, especially during exertion. Collateral vessels develop between the right and left coronary arteries and may provide adequate perfusion to the left myocardium. Further decrease in pulmonary arterial pressure results in a reversal of flow, as the left coronary artery drains from the right coronary artery, through the collaterals, into the pulmonary artery (left-to-right shunting). This is known as myocardial steal phenomenon, which may cause ischaemia or infarction of the anterolateral left ventricular wall. Patients who survive to adulthood may develop a good collateral network with tortuous and dilated left and right coronary arteries 1-5.

Anomalous left coronary artery from the pulmonary artery

Dr Mostafa El-Feky◉ and Dr Yuranga Weerakkody◉ et al.

Anomalous left coronary artery from the pulmonary artery (ALCAPA), also known as Bland-White-Garland syndrome (BWG), is a rare congenital coronary artery anomaly and is considered one of the most severe of such anomalies.

There are two forms, based on onset of disease, each of which has different manifestations and outcomes 5:

infantile type

infants experience myocardial infarction and congestive heart failure

90% die within the 1st year of life

adult type

manifests in adults

results in chronic myocardial ischaemia and dysrhythmias

a cause of sudden cardiac death

Epidemiology

This abnormality only accounts for 0.25-0.5% of all congenital cardiac anomalies 3.

Associations

It is most often an isolated anomaly, associated with other cardiac anomalies in only ~5% of cases 3,7:

atrial septal defect (ASD)

ventricular septal defect (VSD)

patent ductus arteriosus (PDA)

coarctation of the aorta

tetralogy of Fallot (TOF)

Clinical presentation

In the infantile type, ALCAPA presents typically when infants are 1-2 months old. Presenting complaints are typically nonspecific and include diaphoresis, irritability, wheezing and respiratory distress. Precordial auscultation may reveal a murmur.

ECG

deep (>5 mm), narrow Q waves

typically in the lateral leads I, aVL, V5-6

most suggestive feature on the ECG, but may be absent in up to 45% of patients 10

high left ventricular voltage 8

meeting voltage criteria of left ventricular hypertrophy

characteristic of adolescents and older children

may be accompanied by left axis deviation

poor R wave progression 9

defined by an R wave height <3 mm in lead V3

Pathology

ALCAPA refers to a cardiovascular anomaly where the left main coronary artery arises from the pulmonary trunk instead of the left coronary sinus of the ascending aorta.

Aetiology

Either of two aetiologies can be responsible for ALCAPA:

the bulbus cordis undergoes abnormal septation into the aorta and pulmonary trunk

persistence of the pulmonary buds with concomitant involution of the aortic buds that are precursors of the coronary arteries

Pathophysiology

During the first month of life, physiologic pulmonary hypertension tends to preserve antegrade blood flow within the left coronary artery, and infants usually remain asymptomatic. Shortly thereafter, pulmonary artery pressure, resistance, and oxygen content decrease. Thus, the left ventricle receives blood with low oxygen content at low pressure, causing myocardial ischaemia. Further increases in myocardial oxygen consumption ensue in infarction of the anterolateral left ventricular free wall, often with resultant mitral valve insufficiency in approximately 80-85% of cases (infantile type). However in 10-15% of patients, these events stimulate the development of collateral circulation from the right coronary artery to the anomalous left coronary circulation, thus these patients can reach adulthood, the disease most commonly manifesting as late-onset rhythm disorders due to the altered cardiac electric currents. Diminished pulmonary vascular resistance results in flow reversal in the left coronary artery into the pulmonary trunk (i.e. coronary steal phenomenon). Congestive heart failure (CHF) is the end result of left ventricular dysfunction in combination with significant mitral insufficiency.

Radiographic features

Cardiac CT

ECG-gated cardiac CT allows direct visualisation of anomalous left main coronary arterial origin from the posterior aspect of the pulmonary artery. The right coronary artery may be unusually dilated and tortuous with evidence of collateral formation. Intercoronary collateral arteries along the external surface of the heart or within the interventricular septum may also be seen.

Treatment and prognosis

Prognosis depends significantly on the extent of collateral formation, however, most infants die within the first year of birth 4. Death is usually due to circulatory insufficiency from left ventricular dysfunction or mitral valve incompetence, myocardial infarction, or life-threatening cardiac dysrhythmias 3. Early surgical repair is potentially curative. The Takeuchi procedure involves the creation of an aortopulmonary window and an intrapulmonary tunnel that baffles the aorta to the ostium of the anomalous left coronary artery.

Question 189

supravalvular aortic stenosis

Answer 189

Williams syndrome

Williams syndrome

Williams syndrome with midaortic syndrome

Case contributed by Dr Henry Knipe◉◈

Diagnosis certain

Presentation

Hypertension and renal failure.

The descending thoracic and abdominal aorta is very small calibre. Origins of the renal arteries, coeliac trunk and superior mesenteric arteries are also narrowed. Enlarged arc of Riolan.

Case Discussion

Williams syndrome can be a cause of midaortic syndrome via an elastin arteriopathy in approximately 50% of patients. Midaortic syndrome is a rare cause (0.5-2%) of aortic coarctations. There is severe narrowing of the abdominal aorta, often with involvement of the coeliac trunk and superior mesenteric artery (~30%) and renal arteries (90%).

References

Dr Mostafa El-Feky◉ and Dr Yuranga Weerakkody◉ et al.

Williams syndrome (WS), sometimes called Williams-Beuren syndrome, is characterised by some or all of the following features:

craniofacial dysmorphism (e.g. elfin facies)

oral abnormalities

short stature (50% of cases)

mild to moderate intellectual disability

supravalvular aortic stenosis 2

pulmonary artery stenosis 3

renal insufficiency

hypercalcaemia

Pathology

Genetics

A deletion of chromosome band 7 that encodes the elastin gene is thought to be present in ~95% of cases 1. It is predominantly a sporadic inheritance.

Williams syndrome is a rare cause of medullary nephrocalcinosis 5 and middle aortic syndrome 6.

History and etymology

Williams syndrome was first identified in 1961 by J C P (John Cyprian Phipps ) Williams (1922-fl.1970s), a New Zealander cardiologist, who was a rather eccentric individual. He was last seen alive in the mid 1970s in Salzburg in Austria. Interpol were unable to locate Dr Williams after a request from his sister and in 1988 the High Court of New Zealand decreed that he was “a missing person presumed to be dead from 1978” 4,7.

Question 190

bicuspid aortic valve and coarctation

Answer 190

Turners

Turner syndrome

Dr Joachim Feger◉ and Assoc Prof Frank Gaillard◉◈ et al.

Turner syndrome, also known as 45XO or 45X, is the most common of the sex chromosome abnormalities in females.

Epidemiology

The incidence is estimated at 1:2000-5000 of live births, although the in utero rate is much higher (1-2% of conceptions) due to a significant proportion of fetuses with 45X aborting by the 2nd trimester.

Clinical presentation

In adults, it is one of the most important causes of primary amenorrhoea and accounts for approximately one-third of such cases.

Pathology

Genetics

Turner syndrome is classically characterised by the absence of one X chromosome copy (45 XO), with the missing chromosome most frequently (two-thirds) being the paternal one. Most cases occur as a sporadic event.

However, the classic genetic change is not present in all cases. Three main subtypes include:

complete monosomy (45XO): ~60%

even though it is relatively common, almost all 45 XO fetuses will spontaneously abort, with 70% lost between 16 weeks and term

partial monosomy (structurally-altered X chromosome): ~15%

mosaicism (XO and another sex karyotype): ~30%

Unlike the common trisomies, there is no association with maternal age.

Markers

serum alpha-fetoprotein (AFP): decreased

beta HCG

elevated if hydrops present

decreased if no hydrops

serum inhibin

elevated if hydrops present

absent if hydrops absent

Associations

hypertension

glucose intolerance

inflammatory bowel disease

hypothyroidism: due to the formation of thyroid antibodies (most commonly Hashimoto thyroiditis)

gonadal dysgenesis / ovarian dysgenesis

Complications

In utero complications include:

development of hydrops fetalis: usually from fluid overload secondary to lymphatic failure

Radiographic features

Antenatal ultrasound

cystic hygroma: may appear septated; one of the most typical features of Turner syndrome

increased nuchal thickness

increased nuchal translucency

coarctation of the aorta: 15-20%

bicuspid aortic valve

horseshoe kidney / pelvic kidney

mild IUGR

features related to complicating hydrops fetalis

short fetal limbs

Postpartum-to-adulthood features

Musculoskeletal

scoliosis

short 4th metacarpal: positive metacarpal sign

narrowing scapholunate angle: positive carpal sign

abnormal medial femoral condyle

decreased carpal angle: Madelung deformity

short stature

webbed neck

valgus deformity of the elbow: increased carrying angle (cubitus valgus)

Pelvic ultrasound

streaky uterus

streak ovary

Gastrointestinal

pyloric stenosis

Treatment and prognosis

Overall prognosis very variable is dependant on associated anomalies. While the vast majority of fetuses are aborted in the second trimester, some may have a long life expectancy. Cases with mosaicism do much better. Mental development is unaffected.

History and etymology

It is named after the American endocrinologist Henry H Turner (1892-1970) 7 who first described the syndrome in 1938.

Differential diagnosis

General differential considerations include:

Noonan syndrome: can have similar phenotypical features but normal karyotype

Question 191

isolated right upper lobe edema

Answer 191

mitral regurgitation

Question 192

peripheral pulmonary stenosis

Answer 192

Alagille syndrome

Alagille syndrome

Case contributed by Dr Jayanth Keshavamurthy

Diagnosis certain

Presentation

Known patient with Alagille syndrome, branch pulmonary artery stenosis and a left pulmonary artery (LPA) stent.

Stable appearance of the median sternotomy wires with the most inferior wire fractured. Stable pulmonary artery vascular stent.

No focal areas of consolidation or pleural effusions are identified.

The cardiac silhouette is not enlarged

Case Discussion

Surgery initially, thereafter multiple cardiac interventions for pulmonary aretry stenosis with stents.

Alagille syndrome

Dr Mostafa El-Feky◉ and Dr Yuranga Weerakkody◉ et al.

Alagille syndrome (also known as arteriohepatic dysplasia) is a congenital genetic multisystem disorder.

Clinical presentation

Infants typically present with symptoms relating to the liver where it is one of the most common causes of hereditary cholestasis.

Genetics

Alagille syndrome is inherited in an autosomal fashion with a mutation of the JAG1 (90%) and NOTCH2 (1-2%) genes, located on the short arm of chromosome 20. Microdeletion of 20p12 is seen in ~7.5% of patients 6.

Pathology

The spectrum of disease in Alagille syndrome is diverse:

hepatic

paucity +/- stenoses of intrahepatic bile ducts that can eventually lead to cirrhosis and hepatic failure 4

renal

variable, including cystic kidney disease, small kidneys, echogenic kidneys and nephrocalcinosis 5

ocular

posterior embryotoxon

otic

hypoplasia of the posterior semicircular canal

skeletal

butterfly type vertebrae (~50%)

facial

triangular facial

cardiovascular

coarctation of the aorta 1 (rare)

peripheral pulmonary artery stenosis

History and etymology

Named after Daniel Alagille, a French paediatrician (1925-2005) who first described it 9.

Question 193

box-shaped heart

Answer 193

Ebsteins

case 1

Marked cardiomegaly, most pronounced on the right. Pulmonary vasculature is difficult to evaluate, and aortic arch is inapparent.

Case Discussion

Electrocardiography revealed Ebstein anomaly.

Ebstein anomaly

Dr Daniel J Bell◉ and Dr Yuranga Weerakkody◉ et al.

Ebstein anomaly is an uncommon congenital cardiac anomaly, characterised by a variable developmental anomaly of the tricuspid valve.

Epidemiology

The anomaly accounts for only ~0.5% of congenital cardiac defects 6,7, although it is the most common cause of congenital tricuspid regurgitation. There is no recognised gender predilection, and almost all cases seem to be sporadic, although an association with maternal lithium carbonate injection has been postulated 6. A few familial cases have been reported 6,7.

Associations

chromosomal anomalies

trisomy 13

trisomy 21

Turner syndrome

multiple other congenital heart lesions (ASD is quite common)

conduction abnormalities leading to arrhythmia (common), e.g. Wolf-Parkinson-White syndrome

maternal lithium carbonate ingestion: possible

Clinical presentation

The presentation is often antenatal, with the development of hydrops fetalis and fetal tachyarrhythmias 6. In less severe cases, it may present at birth. Depending on the degree of atrial right-to-left shunting, the infant may or may not be cyanotic.

ECG

right atrial enlargement

right bundle branch block

may be incomplete or complete

abnormal PR interval

associated with the Wolff-Parkinson-White syndrome

alternatively, may demonstrate a prolonged PR interval

Pathology

The main abnormality is an abnormal tricuspid valve (particularly septal and posterior leaflets), which is displaced apically into the right ventricle, resulting in atrialisation of the parts of the ventricle above the valve. This results from the tricuspid valve leaflets inadequately separating from each other, or from the chorda tendinae from the inferior portion of the ventricle, during embryologic development. There can be concurrent tricuspid regurgitation with or without stenosis.

Radiographic features

Plain radiograph

Findings on chest radiographs largely depend on the severity of the abnormality and the degree to which the tricuspid valve is displaced downwards.

There is often severe right-sided cardiomegaly due to an elongated and enlarged right atrium which may result in an elevated apex. Classically, the heart is described as having a “box shape” on a frontal chest radiograph.

Echocardiography/ultrasound

Diagnosis relies on visualisation of the septal leaflet of the tricuspid valve, typically appreciated from transthoracic parasternal and apical windows. Apical displacement the septal leaflet in excess of 8 mm per m2 (body surface area) with “sail-like” elongation is considered diagnostic 12. Further features include:

tricuspid regurgitation

degree of right/left ventricular dysfunction

right atrial enlargement

calculation of the chamber area ratio

in the apical 4 chamber view at end-diastole

sum of the right atrial and atrialised right ventricular areas divided by the remaining three cardiac chambers

values of one or more considered markedly enlarged/severe and portend a poor prognosis 11

CT/MRI

Allows direct visualisation of anatomical detail. Cine MRI can be used akin to echocardiography for functional assessment.

apical displacement of the septal and posterior leaflets of the tricuspid valve

as a rule of thumb: if the tricuspid septal attachment lies more than 1.5 cm “beneath” (i.e. towards the apex) than mitral septal attachment, this can be considered Ebstein anomaly (in adults, the measurement is 2 cm)

some prefer a value indexed to body surface area

a septal displacement below the mitral valve of >8 mm/m2 (or >0.8 mm/cm2) is the cutoff value 9 for Ebstein anomaly

“atrialisation” of the right ventricle

tricuspid regurgitation

If you find Ebstein anomaly, also look for other associated defects: right ventricular outflow tract (RVOT) abnormalities, ASD (especially ostium secundum type), VSD, and tetralogy of Fallot.

In your report, mention the position of tricuspid valve leaflets, assess the degree of regurgitation, and measure right ventricular volume and function. Be sure that you quote “true” RV volume (volume of the ventricular side of the tricuspid valve).

Treatment and prognosis

As the anomaly is of variable severity, so is the prognosis. Severity is related to the amount of RVOT dysfunction and tricuspid regurgitation. Sudden death from arrhythmia may occur.

Symptomatic cases that present in utero have a poorer prognosis 6-7. Even in initially asymptomatic cases, life expectancy is usually limited to a few decades 7.

Some surgical procedures have been performed with mixed results. Arrhythmias are treated with medications or pacemaker placement.

History and etymology

It is named after Wilhelm Ebstein, a German physician (1836-1912) 4.

Differential diagnosis

The differential on a chest radiograph is extremely broad, particularly since the findings in Ebstein anomaly are so variable. With echocardiography and MRI, the diagnosis is usually self-evident, once the apically displaced tricuspid valve in identified.

Differential on a chest radiograph includes:

other congenital heart anomalies

left to right shunts: enlarging right atrium

pulmonary stenosis: right heart enlargement

tetralogy of Fallot

Uhl anomaly 3

large pericardial effusion

selective fatty infiltration of the right ventricular myocardium 3

prominent thymus

Question 194

right arch with mirror branching

Answer 194

congenital heart

Introduction

Congenital anomalies of the aortic arch complex include left-sided, right-sided, and double aortic arches, with various branching patterns of the great vessels. They result from aberrant development of one or more components of the embryonic pharyngeal arch system [1]. According to Edwards’ hypothetical embryonic double aortic arch model, each primitive aorta consists of a ventral and a dorsal segment [1]. Six paired primitive aortic arches develop between the ventral and dorsal aortae. It is possible to describe most anomalies of the aortic arch by postulating regression of a segment that would normally persist, and/or persistence of a segment that would normally regress [2]. In accordance with this, the Edwards classification describes 3 types of right aortic arch (RAA): RAA with mirror image branching (RAMI), RAA with aberrant left subclavian artery (ALSA) and RAA with isolation of the LSA [3]. RAMI is the second most common form of a right-sided arch, after right arch with ALSA. This anomaly results from regression of the left dorsal aorta distal to the origin of the seventh intersegmental artery, so that the left fourth arch becomes the proximal subclavian artery rather than the definitive aortic arch [4]. We report a case of a 79 years old woman with right aortic arch with mirror image branching (RAMI) discovered as incidental finding.

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Question 195

hand/thumb defects + ASD

Answer 195

Holt Oram

Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals.

Holt Oram syndrome:

hooked lateral clavicles

absence of the thumbs

some hypoplasia of the radii

Case Discussion

There is absence of the thumbs and some hypoplasia of the radii. The clavicles display a prominent lateral hook.

In association with congenital heart disease, the upper limb deformities are suggestive of Holt Oram syndrome which was confirmed.

This patient’s father also had the condition.

Holt-Oram syndrome

Dr Daniel J Bell◉ and Dr Yuranga Weerakkody◉ et al.

Holt-Oram syndrome (HOS) is an autosomal dominant syndrome that results in congenital heart defects and upper limb anomalies:

congenital heart defects

atrial septal defect (ASD) (commonest cardiac defect 4)

ventricular septal defect (VSD)

aortic coarctation

upper limb abnormalities

radial ray anomalies, e.g. radial aplasia, radial hypoplasia, radial fusion

thumb anomalies, e.g thumb aplasia

phocomelia

clavicle hypoplasia

Pathology

Genetics

A large proportion of affected individuals have mutations in the TBX5 gene. It is thought to carry an autosomal dominant inheritance with full penetration but variable expression. However between 50 and 80% of cases may be due to new mutations.

Radiographic features

Antenatal ultrasound

The diagnosis can be suspected amongst the differential if upper limb abnormalities are noted along with heart defects on fetal ultrasound. The limb defects can be asymmetrical.

History and etymology

Two British cardiologists, Mary Clayton Holt (1924-1993) 10 and Samuel Oram (1913-1991) 11, described the condition in 1960 9.

Differential diagnosis

General considerations include

Aase syndrome

VACTERL association

TAR syndrome: thrombocytopenia - absent radius syndrome

Question 196

ostium primum ASD (or endocardial cushion defect)

Answer 196

Downs

Four chambered view of the heart demonstrates ostium primum atrial septal defect (ASD), arrow. Note absence of any atrial septal tissue superior to the crest of the ventricular septum. The right atrium (RA) and right ventricle (RV) are enlarged. LA, left atrium; LV. left ventricle. Apical and precordial views may show “septal drop-outs” without an ASD because of thinness of the septum in the region of fossa ovalis. Therefore, subcostal views should be scrutinized for evidence of ASD. In addition, demonstration of flow across the defect with pulsed Doppler and color Doppler (Figure 3, right panel) echocardiography is necessary to avoid false positive studies. In adolescents and adults transesophageal echo (TEE) is needed to make definitive diagnosis of ASD. (Figures 5 and 6)

Question 197

right-sided PAPVR

Answer 197

sinus venosus ASD

Partial anomalous pulmonary venous return of right upper pulmonary vein associated with sinus venosus ASD

Case contributed by Dr Edgar Lorente◉

Diagnosis certain

Presentation

Presented with shortness of breath. No other data provided.

cxr

The electrode of the pacemaker destinated to right ventricle is placed in left ventricle topography, passing through the left atrium.

Prominent pulmonary markings, with an atypical morphology of right hilum.

Right hilar angle seems to be altered in its superior component.

ct:

Right upper pulmonary vein draining to superior vena cava is visualised.

There is a sinus venosus atrial septal defect, with electrode of pacemaker passing through and located in left ventricle.

Prominent pulmonary vascularisation, secundary to increased blood supply to right cavities.

Case Discussion

Partial anomalous pulmonary venous return (PAPVR) is a rare entity that is frequently associated with atrial septal defects (ASD), so that when PAPVR is diagnosed, a cardiological study should be performed to rule out ASD (and vice versa).

In this case, the incidental finding of pacemaker malposition led to the realisation of a CT scan, where both the atrial defect and the abnormal drainage were evidenced.

Likewise, this patient had signs of pulmonary hyper afflux due to the left-right shunt.

Sinus venosus ASD is a very rare entity (less than 10% of all ASD, according to some series) consisting of a septation defect of the pulmonary veins, vena cava and /or posterior wall of the right atrium. There are two types: upper venous sinus and inferior venous sinus.

The upper sinus venosus ASD is associated with superior anomalous drainage, and the inferior sinus venosus ASD is associated with inferior anomalous drainage.

So, to take home:

look always at the pacemaker and where electrodes are located

whenever you see an abnormal pulmonary drainage, look at the heart

whenever you see an ASD, look for anomalous drains!

Partial anomalous pulmonary venous return

Dr Bruno Di Muzio◉◈ and Dr Maxime St-Amant◉ et al.

Partial anomalous pulmonary venous return (PAPVR), also known as partial anomalous pulmonary venous connection (PAPVC), is a rare congenital cardiovascular condition in which some of the pulmonary veins, but not all, drain into the systemic circulation rather than in the left atrium.

Clinical presentation

Patients with large shunts may present with symptoms of dyspnoea, chest pain and palpitations, signs like tachycardia and murmur can be encountered. Cases of secondary pulmonary arterial hypertension have been reported 6,7.

Pathology

Classification

Four types of PAPVR have been described:

supra-cardiac

persistent left superior vena cava

right superior vena cava (most common)

brachiocephalic veins (=innominate veins)

cardiac

right atrium

coronary sinus

infracardiac

portal vein

hepatic veins

inferior vena cava (Scimitar syndrome)

mixed

a combination of two or more of the above anomalies

Left-sided PAPVR has been reported to be found more often in adults, whereas right-sided PAPVR is reported more commonly in children 3. It is unclear if this is because of a higher proportion of symptomatic manifestation of the latter. The left upper lobe vein anomaly is thought to be most common.

Associations

in ~40% of patients with right-sided PAPVC, an atrial septal defect is seen 3

more rarely it is seen with ostium primum defect, a subtype of atrioventricular defects

Radiographic features

Plain radiograph

Chest radiographic features are particular to each subtype of PAPVR. The abnormal vein is rarely identified, except in cases of Scimitar syndrome. Pulmonary venous congestion can be seen if the venous drainage is obstructed.

Cardiomegaly can also be seen if significant abnormal intracardiac venous drainage occurs.

CT

Utilisation of contrast-enhanced studies with MDCT technology enables both detection and characterisation of the anomalies. It is considered the imaging modality of choice 3,4.

Treatment and prognosis

Therapeutic options include surgical repair with ASD patching, intracardiac baffle, anomalous vein anastomosis, systemic vein translocation and Warden procedure inter alia.

Differential diagnosis

Imaging differential considerations include:

total anomalous pulmonary venous return (TAPVR)

pulmonary varix

persistent left superior vena cava

Sinus venosus atrial septal defects (SVASDs) are rare congenital cardiac abnormalities (5%–10% of all ASDs) that occur at the posterior aspect of the interatrial septum, close to the junction of the superior or inferior vena cava with the right atrium. They involve the portion of the atrial wall that derives from the sinus venosus and they are often associated with partial anomalous pulmonary venous drainage from the right lung. SVASDs result in a left to right shunt at the atrial level, since the left atrial pressure is greater than the right. They may not cause symptoms in childhood, however patients may become symptomatic with ageing. SVASDs have nonspecific clinical manifestations such as exertional dyspnea, arrhythmias, paradoxical embolism or, very rarely, they may cause inadvertent passage of pacing leads/catheters to the left chambers during interventions.[3] The long term haemodynamic effect is volume overload of the right heart, as a result of the shunt, which can cause pulmonary hypertension if the shunt is significant. Furthermore, the frequently coexistent anomalous pulmonary venous drainage (in around 90% of SVASDs) contributes to additional left-to-right shunting, thus, the development of Eisenmenger physiology can occur earlier compared to an isolated ASD.[4] SVASDs can be misdiagnosed as primary pulmonary hypertension, thus they should always be suspected in case of unexplained right heart chambers dilatation.[5] Transthoracic echocardiography has low sensitivity for the detection of SVASDs (10% approximately) due to their posterior location.[6] Other imaging modalities like TEE, CMR and ECG gated multidetector cardiac computed tomography (CT) can reveal the presence of SVASDs and coexistent anomalous pulmonary venous drainage. Repair of an ASD is indicated when the defect is large, there is right heart dilatation with pulmonary hypertension and Qp/Qs > 1.5. However, the repair is contraindicated in case of severe irreversible pulmonary hypertension with bidirectional or right-to-left shunt (Eisenmenger physiology), as closure would provoke acute decompensation of the right ventricle.[2] The treatment of choice for SVASD is surgical repair of both SVASD and possible coexistent abnormal pulmonary venous drainage. Percutaneous closure of the defect with a device is technically difficult, because of the lack of adequate rim and the need of redirecting the abnormal pulmonary veins. However, cases of percutaneous closure of an SVASD have been previously described.[7]

Question 198

calcification in the left atrium wall

Answer 198

rheumatic heart disease

Question 199

difficult to suppress myocardium

Answer 199

amyloid

Question 200

blood pool suppression on delayed enhancement

Answer 200

amyloid

Question 201

septal bounce

Answer 201

constrictive pericarditis

Question 202

ventricular interdependence

Answer 202

constrictive pericarditis

Question 203

focal thickening of septum - but not HCM

Answer 203

sarcoid

Question 204

ballooning of the left ventricular apex

Answer 204

TakoTsubo

Takotsubo cardiomyopathy

Case contributed by Dr Gregor Savli

Diagnosis almost certain

Presentation

Chest pain and dyspnoea, which started shortly after her close friend died (on the same day).

There is normal myocardial contraction only in the basal segments (AHA 1 to 6).
Hypokinesia of posteroseptal wall (AHA 8 to 10) and basically akinesia or very little movement of anteroseptal wall and apical segments (AHA 7 and 11 to 17).

This MRI was performed on the 5th day from the onset of symptoms. No perfusion deficits, oedema or late enhancement was seen on perfusion, T2 BB fatsat and late enhancement (with nulled myocardium) sequences.

LV ejection fraction was 22%. EDV 136 ml, ESV 106 ml, SV 30 ml.

1 day after MRI, coronary angiography was also performed and all the coronary arteries were in excellent condition.

Case Discussion

The findings are fairly typical for takotsubo CMP. Akinetic, “stunned” myocardium does not follow a vascular territory, instead, it follows LV anatomy - it contracts normally at the base with no contraction at the apex of LV. This results in a typical LV shape, named after the appearance of a Japanese octopus trap.

There were no signs of myocardial infarction (oedema and/or late enhancement). The coronary arteries were in excellent, “mint” condition.

These findings, combined with the typical history of a very stressful moment or circumstances are typical for takotsubo cardiomyopathy.

Takotsubo cardiomyopathy

Dr Joachim Feger◉ and Dr Yuranga Weerakkody◉ et al.

Takotsubo cardiomyopathy (TC) (a.k.a. apical ballooning syndrome) is a condition characterised by transient regional abnormal cardiac wall motion, not confined to a single coronary arterial territory. It has been described predominantly in postmenopausal women, often following exposure to sudden, unexpected emotional or physical stress, and is therefore, also known as broken heart syndrome.

Clinical presentation

Patients typically present with acute chest pain, a physical exam compatible with acute left ventricular failure, and a clinical picture consistent with an acute coronary syndrome. Following the acute presentation, the prognosis is generally very good, with complete resolution occurring in a number of weeks to months.

ECG

predominantly precordial ST segment elevation 9

an absence of reciprocal ST depression

non-anatomically contiguous distribution

may develop reversible Q waves in the same leads

the ST segments typically return to isoelectric baseline over 1-3 days

T wave inversion

deep, symmetric T wave negativity which persists for months

prolongation of QT intervalhowever, clinically significant arrhythmias seldom occur, and are predominantly supraventricular in origin, most commonly:

atrial fibrillation

sinus tachycardia

Biochemistry

Patients with takotsubo cardiomyopathy can have high levels of serum catecholamines and plasma brain natriuretic peptide (BNP). The secretion pattern of BNP in takotsubo patients can be quite similar to those with a myocardial infarction. The cardiac troponin level may also rise modestly.

Diagnosis

While there is no definite consensus on the diagnostic criteria for takotsubo cardiomyopathy, a set of diagnostic criteria was proposed in 2004 by researchers at the Mayo Clinic, which has been modified recently 1:

transient hypokinesis, akinesis, or dyskinesis in the left ventricular mid segments with or without apical involvement; regional wall motion abnormalities that extend beyond a single epicardial vascular distribution; and frequently, but not always, a stressful trigger

absence of obstructive coronary disease or angiographic evidence of acute plaque rupture

new ECG abnormalities (ST-segment elevation and/or T-wave inversion) or modest elevation in cardiac troponin

absence of phaeochromocytoma and/or myocarditis

Pathology

There is a transient left ventricular dysfunction with no evidence of obstructive epicardial coronary disease.

Radiographic features

Echocardiography

The “takotsubo” morphology refers to the appearance of systolic “ballooning” of the left ventricular apex; it may also involve the right ventricle. Basal segments of the affected myocardium are hyperdynamic with a diffusely hypocontractile apex, with a disproportionately large amount of myocardium affected as compared to the troponin elevation. This regional dyssynchrony may precipitate:

dynamic left ventricular outflow tract obstruction

mitral regurgitation

Alternate patterns have been described, including a “reverse takotsubo” pattern in which the basal and mid segments of the left ventricle are akinetic and the apex hyperdynamic, or isolated wall motion abnormalities involving the inferior and/or inferolateral walls 10.

While the morphology may increase suspicion, the resolution of echocardiographic abnormalities with serial examinations over time increases specificity.

Left ventriculography

Left ventriculography can demonstrate transient dysfunction and ballooning of the left ventricular mid and apical segments 8.

MRI

On cardiac MRI, four distinct patterns of dyskinesia and ballooning are recognised: apical (most common), biventricular, mid-ventricular, and basal.

There is typically an absence of late enhancement on delayed contrast sequences, which differentiates takotsubo cardiomyopathy from anterior STEMI.

There can be high T2 intensity signal (directly relating to water content in the myocardial wall); the oedema is typically located in the apical mid ventricular planes and spares the basal plane, and matches the wall-motion abnormalities seen on cine MRI.

MR perfusion: usually normal

History and etymology

The word tako-tsubo in Japanese refers to a pot used to catch octopi (see Figure 1 opposite) 2. It is thought to have first been described by Keigo Dote et al. in 1991 5.

See also

WHO/ISFC 1995 cardiomyopathy classification system

Question 205

fat in the wall of a dilated right ventricle

Answer 205

Arrhythmogenic right ventricular cardiomyopathy

ARVC

Arrhythmogenic right ventricular cardiomyopathy

Case contributed by Dr Vlad Barskiy

Diagnosis certain

Presentation

No complaints. Arrhythmia was incidentally detected during medical examination.

There are multiple aneurysms of the right ventricle (RV) with areas of myocardial transformation.

RV EDV/BSA 154 ml/m2

RV EF 29%

Non-compact left ventricular myocardium is also demonstrated.

Case Discussion

Cardiac MRI findings in the right ventricle are compatible with arrhythmogenic right ventricular cardiomyopathy.

Arrhythmogenic right ventricular cardiomyopathy

Dr Francis Deng◉ and Dr Yuranga Weerakkody◉ et al.

Arrhythmogenic right ventricular cardiomyopathy (ARVC), also referred to as arrhythmogenic right ventricular dysplasia (ARVD) or simply arrhythmogenic cardiomyopathy, is a cardiomyopathy that is one of the more common causes of sudden cardiac death in young patients.

Epidemiology

The estimated population prevalence is thought to range around 1 in 1000-5000 8. It typically presents in young individuals. There is a recognised male predilection, with a male-to-female ratio of 2.7:1. Several reports suggest that there is a familial occurrence of ARVC of about 30-50%, with mainly autosomal dominant inheritance, various penetrance, and polymorphic phenotypic expression.

Clinical presentation

Patients with ARVC commonly present with palpitations, syncope, or sudden cardiac arrest due to their propensity for ventricular ectopy arising from the structurally abnormal right ventricle. Exertion is a common trigger for the causative ventricular tachyarrhythmias. Patients may also present with the clinical haemodynamic “congestion” component of CHF, including;

jugular venous distension

hepatic congestion

symmetric, pitting pedal oedema

exercise intolerance

ECG

conduction abnormalitiesfeatures most pronounced in the right precordial leads (V1-3)epsilon wave

subtle positive “notch” after the J point and before the T wave

localised widening of QRS complex (V1-3)

prominent, broad S wave with slurred upstroke

inversion of T waves (V1-3)

ventricular tachyarrhythmiasusually regular, wide (QRS duration >0.12) complex rhythms with rates between 140-250 beats per minute

typical of monomorphic ventricular tachycardia (VT)

deviation of the QRS axis in the frontal plane

often demonstrates a morphology consistent with an ectopic origin in the right ventricular outflow tract (RVOT VT)

major QRS vector travels from the base to the apex, roughly leftward and inferiorly, thus appearing predominantly positive in leads aVL (high lateral) and II, III and aVF (inferior)

may also demonstrate a left bundle branch morphology

Associations

Diagnosis is based on the presence of structural, histologic, electrocardiographic, arrhythmic, and genetic factors 4. This involves a combination of characteristic abnormalities in family history, electrocardiography, cardiac imaging as well as an endomyocardial biopsy.

Diagnostic criteria have also been developed, of which patients must have either two major criteria, one major and two minor criteria, or four minor criteria. See diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy 2.

Pathology

Two morphologic variants of ARVC have been reported: fatty and fibrofatty.

the fatty form is characterised by almost complete replacement of the myocardium without thinning of the ventricular wall, and it occurs exclusively in the right ventricle

the fibro-fatty variant is associated with significant thinning of the right ventricular wall, and the left ventricular myocardial wall may also be involved 1,2

Both idiopathic and familial aetiologies have been proposed (see epidemiology above) 2.

As the name implies, it classically involves the right ventricle although, on autopsy studies, a sizeable number of cases also show a degree of left ventricular involvement. Left dominant arrhythmogenic cardiomyopathy is a separate entity.

Radiographic features

Plain radiograph

Chest radiographic findings are non-specific and can often be normal. May show evidence of right ventricular dilatation (best seen on a lateral view).

Echocardiography

Echocardiography has inconsistent sensitivity and specificity for the diagnosis of ARVC and is not considered a primary modality in the final diagnosis 12.

The major echocardiographic criteria consistent with ARVC are:

regional right ventricular dyskinesia or aneurysm (required)

right ventricular outflow tract diameter (measured in the parasternal long-axis) of 36 mm or larger

a fractional area change of 33% or less

The minor criteria are:

regional right ventricular akinesia or dyskinesia (required)

right ventricular outflow tract diameter (measured in the parasternal long-axis) between 29 and 35 mm

a fractional area change between 34-39%

The aforementioned wall motion abnormalities are required. Disproportionate enlargement of the basal right ventricle, severe functional TR may occur in the presence of RV dilatation and dysfunction while visualisation of an intensely echogenic moderator band are supportive features in the presence of major or minor criteria 13.

CT

May show right ventricular dilation and fatty low attenuation to the right ventricular wall.

MRI

Cardiac MRI is the most sensitive diagnostic imaging modality. Major cardiac MRI diagnostic criteria are:

regional RV akinesia or dyskinesia or dyssynchronous RV contraction and 1 of the following:

ratio of RV end-diastolic volume to BSA ≥110 mL/m2 (male) or ≥100 mL/m2 (female)

RV ejection fraction ≤40%

Minor cardiac MRI diagnostic criteria are:

regional RV akinesia or dyskinesia or dyssynchronous RV contraction and 1 of the following:

ratio of RV end-diastolic volume to BSA ≥100 to <110 mL/m2 (male) or ≥90 to <100 mL/m2 (female)

RV ejection fraction >40% to ≤45%

MRI may show fatty infiltration in the right ventricle (and occasionally in the left ventricle) 8, but this can also be seen in normal myocardium 3 and is no longer part of the diagnostic criteria 9. A corrugated pattern to the right ventricular wall may be seen, known as the “accordion sign.”

Focal left ventricular dyskinesia may be present with fatty infiltration within the left ventricle. MRI is also helpful in the evaluation of myocardial fibrosis and scarring.

Treatment and prognosis

ARVC is a progressive disease and will probably lead to right ventricular failure in the long term unless sudden cardiac death occurs beforehand.

Therapy is focussed on prevention of arrhythmogenesis by either pharmacologic (amiodarone or beta-blockade) or interventional (e.g. endocardial-epicardial radiofrequency ablation) means. An implantable cardioverter-defibrillator (ICD) is often placed to prevent degeneration of any future paroxysms of the abovementioned tachyarrhythmias.

Differential diagnosis

Imaging differential considerations include:

large right ventricular infarction

idiopathic dilated cardiomyopathy

hypertrophic cardiomyopathy

Uhl anomaly

paper-thin right ventricle due to the almost complete absence of myocardial muscle fibres

no gender predilection or familial occurrence

Question 206

kid with dilated heart and mid-wall enhancement

Answer 206

muscular dystrophy

• Becker (mild one) and Duchenne (severe one) are x-linked neuromuscular conditions.
• They have biventricular replacement of the myocardium with connective tissue and fat (delayed Gd enahcement in the midwall).
• They often have dilated cardio,yopathy.
• Just think ‘kid with dilated heart and mid wall enhancement
• CTC p459

Question 207

cardiac rhabdomyoma

Answer 207

tuberous sclerosis

• Most common fetal cardiac tumour.
• it is a hamartoma
• they prefer the left ventricle
• A/W TS
• most tumours will regress spontaenously
• Those NOT A/W TS are less likely to regress.
• CTC vol 1 pg 460

Question 208

bilateral atrial thrombus

Answer 208

eosinophilic cardiomyopathy

• CTC vol 1 p457
• Loeffler
• Loeffler endocarditis is a rare restrictive cardiomyopathy caused by abnormal endomyocardial infiltration of eosinophils, with subsequent tissue damage from degranulation, eventually leading to fibrosis. Although an uncommon entity, it is still a disease with significant morbidity and mortality.
• Bilateral ventricular thrombus is the classic phrase/buzword.
• You will need a long T1 to show the thrombus

Question 209

diffuse LV subendocardial enhancement not restricted to vascular distribution

Answer 209

cardiac amyloid

CTC vol1 p457

• Depositis in the myocardium casues abnormla diastolic funciton with biatrial enlargement, concentric thickening of the LV and reduced systeo.lic function of usually both ventrilces
• Seen in 50% of cases with systemic Amyloid.
• Has a terrible prognosis
• You can sometimes see late Gd enhancement over the entire subendocaridial circumference.
• AMYLOID CLASSIC SCENARIO
  
  • a long T1 is needed (like 350ms, normal would be like 200ms).
  • T1 will be so long that the blood pool may be darker than the myocardium.
  • Buzzword: DIFFICULT TO SUPPRESS MYOCARDIUM

Cardiac amyloidosis

Dr Mostafa El-Feky◉ and Radswiki◉ et al.

Cardiac amyloidosis (plural: amyloidoses) is a significant source of morbidity among patients with systemic amyloidosis and is the most common cause of restrictive cardiomyopathy outside the tropics.

Pathology

Amyloidosis represents the extra-cellular deposition of insoluble fibrillar proteinaceous material in various organs and tissues in a variety of clinical settings. For a general discussion of the condition please refer to amyloidosis.

Cardiac involvement is seen with most forms of amyloidosis, although it is most common and most often clinically significant with primary amyloidosis (i.e. associated with multiple myeloma or other monoclonal gammopathies).

There are 2 main forms of amyloidosis that significantly affect the heart.

AL amyloidosis: acquired disease

transthyretin-related (TTR) amyloidosis: there are 2 types of TTR-related amyloidosis:

genetic form: hereditary transthyretin-related amyloidosis (ATTR)

non-hereditary form: senile systemic amyloidosis (SSA)

Radiographic features

Echocardiography

Described transthoracic echocardiography findings include

atrial septal thickening

considered a characteristic feature of cardiac amyloidosis

characteristic granular/sparkling appearance of the left ventricular (LV) myocardium: not specific and need to differentiate from other infiltrative diseases

increased LV wall thickness

results from amyloid infiltration of interstitial space and may relate to amyloid burden

decreased LV end-diastolic volume

leads to reduced stroke volume despite near-normal LVEF

typically preserved or mildly reduced LV ejection fraction

systolic dysfunction may occur in advanced disease

transmitral flow demonstrates a restrictive filling patternexaggerated E/A ratio (E>>A) with a truncated E wave deceleration time (DT)

a reduced amplitude A wave may suggest poor atrial function and a higher risk of thrombus formation

elevated E/e’ ratio suggestive of elevated left atrial pressurepulmonary venous doppler waveforms will demonstrate a diastolic filling predominance with an S/D ratio <1

amplitude of atrial reversal (AR) >35 cm/s

duration of AR exceeds mitral A wave by >20 ms

biatrial enlargement

right atrial enlargement

left atrial enlargement

atrial strain: can be significantly reduced

longitudinal strain (LS) in the left ventricle is impaired

impairment more pronounced at the base and mid-ventricular regions compared to the apex

specific patterns of left ventricular LS may differentiate amyloid from aortic stenosis and hypertrophic cardiomyopathy

reduced right ventricular systolic excursion velocity (S’) as measured by tissue Doppler imaging

tricuspid annular plane systolic excursion and RV LS are early indicators of cardiac involvement in patients with systemic AL amyloidosis

reduced tricuspid annular plane systolic excursion (TAPSE) despite normal RV end-diastolic dimension

dynamic left ventricular outflow tract obstruction

distinguish from hypertrophic obstructive cardiomyopathy (HOCM)

MRI

MRI is the modality of choice for evaluating cardiac amyloidosis. Features include:

a diffuse decrease in the T1 and T2 signal intensity of myocardium

diffuse left ventricular wall thickening (usually multiple chambers are involved); can be associated with thickening of both atrial walls in which case, a thickening of >6 mm of the inter-atrial septum or posterior right atrial wall is specific to amyloidosis 10

biventricular diastolic dysfunction with normal systolic function and ejection fraction

subsequently (later in the course of the disease) may show systolic biventricular dysfunction with a decreased ejection fraction

restriction of diastolic filling

disproportionate atrial enlargement

pericardial and pleural effusions

T1 mapping:

native T1 is prolonged even more in AL-amyloidosis than in ATTR-amyloidosis 13-16

extracellular volume is increased especially in ATTR-amyloidosis, for which it is prognostic factor 15,16

T2 mapping:

elevated T2 is associated with a worse prognosis in AL-amyloidosis 17

late gadolinium enhancement (LGE)

diffuse sub-endocardial heterogeneous increased signal on contrast-enhanced inversion recovery T1-weighted images (a characteristic feature) 11

transmural enhancement may be more prevalent in patients with ATTR compared to patients with AL 6

Nuclear Medicine

Tc-99m-DPD, Tc-99m-HMDP (hydroxymethylene diphosphonate) and Tc-99m-PYP (pyrophosphate) 22 have been shown to have high sensitivity and specificity for the diagnosis of cardiac amyloidosis (ATTR) 19,20. Planar +/- SPECT-CT scintigraphy is performed to look for increased cardiac uptake in cardiac amyloidosis. Cardiac uptake is evaluated visually and can be scored using the Perugini scale 18,21.

Differential diagnosis

Cardiac amyloidosis needs to be distinguished from other forms of restrictive cardiomyopathy, including:

hypertrophic cardiomyopathy

cardiac sarcoidosis

cardiac lymphoma

Circumferential thickening of left ventricular walls. Focal increased trabeculations about the lateral apical wall, which does not meet the criteria for a noncompaction. Mild concentric thickening of right ventricular walls. Left atrial enlargement.

There is widespread delayed enhancement involving the myocardium and the subendocardium compatible with cardiac amyloidosis. The subendocardial enhancement involves both atria and ventricles.

Diffuse prolongation of the native T1-weighted mapping (reaching up to 1200 ms) is demonstrated. Diffuse shortening of the T1-weighted post-mapping images. Abnormal extracellular volume imaging (ECV) is demonstrated. Abnormal patchy mid-myocardium as well as subendocardial enhancement involving most left ventricle.

Suspected grade 3 diastolic dysfunction as manifested by near absent A wave.

Case Discussion

Findings are consistent with cardiac amyloidosis, including concentric ventricular hypertrophy and advanced diffuse fibrosis involving all 4 cardiac chambers. Left ventricular ECV is severely elevated, 45-55%. There is: biventricular systolic dysfunction, LVEF 44% and RVEF 36%. Suspected grade 3 diastolic dysfunction. Peak systolic velocity across the mitral valve 48 cm/s (VENC adjustment is 150 cm/sec). The ratio of E to A, exceeds 2 with nearly absent A wave, suggestive of grade III diastolic dysfunction.

ECV = (1- Haematocrit) ( 1 /T1 Myo post - 1/ T1 Myo pre ) divided by (1/ T1 blood post - 1/ T1 blood pre)1

Histopathology (microscopic description):

patchy moderately extensive interstitial amyloid deposition; a Congo red stain confirms the diagnosis

LC MS/MS detected a peptide profile consistent with ATTR (transthyretin/prealbumin)-type amyloid deposition

Question 210

Glenn procedure

Answer 210

acquired pulmonary AVMs

Glenn-Proceedure

• CTC pg 464 vol 1
• Glassic Glenn
  
  • shunt between the SVC and right PA (end to end), with the additional step of seeing the proximal end of the right PA closed with the goal of reducing RV work by diverting all venous return strain to the lung (right lung).
• Bi-Directional Glenn
  
  • shunt betn the svc and the right PA (end to side)
  • The RPA is left open letting blood flow to both lungs
  • This procedure can be used to address right sided heart problems in general and is also step two in the palliative hypoplastic series.
  • If its being used as step two in the previously prlacked blalock-Taussig Shunt or Sano shunt will come down as the Glenn will be doing its job of putting blood in the lungs.
• HIGH YEILD POINT
  
  • GLENN = VEIN TO ARTERY (svc to PA)
    
    • Primary purpose is to take systemic blood directly to the pulmonary circulation, bypassing the right heart
    • Most testable complications
      
      • SVC syndrome
      • PA aneurysms
  • BT/Blaclock-Taussig = ARTERY TO ARTERY
    
    • (Subclavian Artery to PA)
    • Primary purpose is to increase pulmonary blood flow
    • Most testable complications
      
      • Stenosis at the shunts pulmonary insertion site.
  • Fontan
    
    • Its complicated with multiple versions
    • Primary purpose
      
      • bypass the RV/direct systemic circulation into the PAs.
    • most testable complications
      
      • Enlarged right atrium
        
        • Causes arrhythmia
      • Plastic bronchitis

Pulmonary arteriovenous malformations (PAVMs) are a cause of progressive cyanosis after cavopulmonary anastomosis in children with single ventricle physiology who are on the pathway leading to a Fontan procedure. Investigations into possible mechanisms for the etiology of PAVMs are ongoing and suggest that the liver might play a key regulatory role in the development of these lesions. (Ann Thorac Surg 2003;76:1759–66) © 2003 by The Society of Thoracic Surgeons The clinical introduction of the cavopulmonary shunt (Glenn shunt) in the late 1950s was an important contribution to the treatment of children with cyanotic congenital heart disease. The development of this procedure in an animal model and its ultimate use to successfully treat children with single-ventricle physiology is a classic example of the progression of an innovative surgical concept from the laboratory to clinical application [1, 2].

Question 211

pulmonary vein stenosis

Answer 211

ablation for A-fib

Question 212

multiple cardiac myxomas

Answer 212

Carney’s complex

Mnemonic

One way to remember the differentiation between the Carney triad and the Carney complex is that the Carney _C_omplex has Cardiac findings (myxoma).

Carney complex

Dr Tristan Skalina◉ and Assoc Prof Frank Gaillard◉◈ et al.

Carney complex (not to be confused with the Carney triad) is a rare multiple endocrine neoplasia syndrome characterised by 1-4:

cardiac myxoma

often multiple

seen in two-thirds of patients with Carney complex

skin pigmentation (blue naevi): especially of the face, trunk, lips, and sclera

Multiple other features are also well recognised including:

extracardiac myxoma

breast

testis

thyroid

brain

adrenal gland: primary pigmented nodular adrenocortical disease (PPNAD)

pituitary adenoma

psammomatous melanotic schwannoma

testicular tumours

Sertoli cell tumours: most common

osteochondromyxoma

Epidemiology

Collectively there have been more than 750 cases of Carney complex reported worldwide however the exact prevalence is unknown 6,7. One study of 353 patients found a female predilection (63%) 8.

Pathology

Carney complex has autosomal dominant inheritance with almost 100% penetrance, related to inactivating mutations or large deletions of the PRKAR1A tumour suppressor gene on chromosome 17q22-24 5,6.

Question 213

vessel in fissure of ligamentum venosum

Answer 213

replaced left hepatic artery

• If you see a vessel in the fissure of the LIGAMENTUM venosum (where there is not normally a vessel), its probably an accessory or replaced left hepatic artery arising from the left gastric artery.
• The proper right hepaic artery is anterior to the right portal vein, whereas the replaced right hepatic artery is posterior to the main portal vein.
• This position of the replaced right increases the risk of injury in pancreatic surgeries

Variant hepatic arterial anatomy

Dr Yahya Baba◉ and Associate Professor Donna D’Souza◉ et al.

Variation in hepatic arterial anatomy is seen in 40-45% of people. Classic branching of the common hepatic artery from the coeliac artery, and the proper hepatic artery into right and left hepatic arteries to supply the entire liver, is seen in 55-60% of the population.

Terminology

An accessory hepatic artery is one which arises from an anomalous origin and supplies a portion of the liver along with another artery.

A replaced hepatic artery is one which arises from an anomalous origin and supplies a portion of the liver solely.

Variant anatomy

In general, the common hepatic artery may arise from the abdominal aorta or superior mesenteric artery (SMA) and all or part of the right and left hepatic arteries may arise from (be replaced to) other vessels.

The two most common variants are:

replaced right hepatic artery arising from the SMA

replaced left hepatic artery arising from the left gastric artery

Another common finding, though not considered a variant by many authors, is trifurcation of the common hepatic artery into the right hepatic artery, left hepatic artery and gastroduodenal artery (GDA). With this branching pattern, there is no proper hepatic artery (PHA).

Common hepatic artery (CHA)

from aorta: 2%

from SMA: 2%

trifurcation into RHA, LHA and GDA: ~6% (range 4-8%)

from coeliacomesenteric trunk (CMT)

Right hepatic artery (RHA)

from coeliac artery: ~2.5% (range 1-4%)

from SMA: ~12.5% (range 9-15%)

accessory right hepatic artery from SMA: ~4% (range 1-7%)

Left hepatic artery (LHA)

from left gastric artery (LGA): ~7.5% (range 4-11%)

accessory left hepatic artery from LGA: ~7.5% (range 4-11%)

Right and left hepatic arteries

RHA from SMA and LHA from LGA: ~1% (range 0.5-2%)

accessory RHA and LHA: 1%

Middle hepatic artery (MHA)

middle hepatic artery usually arises from the left hepatic artery

it may arise from the right hepatic artery

it may arise as a trifurcation of the proper hepatic artery in the porta hepatis

in patients with a replaced left hepatic artery, the middle hepatic artery arises from the right hepatic artery

in patients with a replaced right hepatic artery, the middle hepatic artery arises from the left hepatic artery

if the bifurcation of the proper hepatic artery is low within the porta hepatic, then the middle hepatic artery may have an extrahepatic course and traverse Calot’s triangle

​Classification

A classification method was described by Michel et al. in 1955 6

I: standard anatomy ~60% (range 55-61%)

II: replaced LHA ~7.5% (range 3-10%)

III: replaced RHA ~10% (range 8-11 %)

IV: replaced RHA and LHA ~1%

V: accessory LHA from LGA ~10% (range 8-11%)

VI: accessory RHA from SMA ~5% (range 1.5-7%)

VII: accessory RHA and LHA ~1%

VIII: accessory RHA and LHA and replaced LHA or RHA ~2.5%

IX: CHA replaced to SMA ~3% (range 2-4.5%)

X: CHA replaced to LGA ~0.5%

unclassified

CHA separate origin from aorta ~2%

double hepatic artery ~4%

PHA replaced to SMA; GDA origin from aorta <0.5%

Question 214

vessel coursing on pelvic brim

Answer 214

Corona Mortis

• Classically described as a vascular connection between the obturator and external iliac.
• some authors describe additional anastomotic apathy ways,
• but you should basically think of it as any vessel coursing over the superior pubic rim, regardless of the anastomotic connecting.
• The ‘CROWN OF DEATH” is significant because it can
  
  • be injured in pelvic trauma or
  • be injured during surgery
  • it is notoriously difficult to ligate
• Some authors report that it causes 6-8% of deaths in pelvic trauma.
• The las piece of trivia is that it could hypothetically cause a type 2 endoleak.

Question 215

ascending aorta calcifications

Answer 215

syphilis and Takayasu

Question 216

tulip bulb aorta

Answer 216

Marfans

Question 217

really shitty Marfan’s variant

Answer 217

Loeys-Dietz

Loeys-Dietz syndrome is a recently-described connective tissue disorder with features similar to those of Marfan syndrome, and the vascular type of Ehlers-Danlos syndrome. Loeys-Dietz syndrome is primarily characterized by aortic aneurysms (weakened outpouchings of the aorta, the main artery in the body) in children.

Question 218

tortuous vessels

Answer 218

Loeys-Dietz

Question 219

renal artery stenosis with HTN in child

Answer 219

NF-1

Question 220

nasty-looking saccular aneurysm without intimal calcs

Answer 220

mycotic

Question 221

tree bark intimal calcification

Answer 221

syphilitic (Luetic) aneurysm

Question 222

painful aneurysm in smoker sparing posterior wall

Answer 222

inflammatory aneurysm

Question 223

Turkish guy with pulmonary artery aneurysm

Answer 223

Behcets

Question 224

GI bleed with early opacification of dilated draining vein

Answer 224

colonic angiodysplasia

• Angiodysplasia of the colon is swollen, fragile blood vessels in the colon. This can result in blood loss from the gastrointestinal (GI) tract. The digestive system organs in the abdominal cavity include the liver, gallbladder, stomach, small intestine and large intestine.
• Small bowel vascular angiodysplasia

Case contributed by Dr Dalia Ibrahim◉

Diagnosis almost certain

Presentation

Multiple episodes of melaena. Iron deficiency anaemia.

• Focal small nodular areas of enhancement and bulbous swelling of the intramural veins in the wall of the jejunum, undetectable on arterial phase and brightest on enteric phase. Enlarged draining antimesenteric jejunal veins.

Mesenteric congestion. The jejunal bowel loops show circumferential mural thickening.

• The first image shows focal small nodular areas of enhancement and bulbous swelling of the intramural veins in the wall of the jejunum (red circles), undetectable on arterial phase and brightest on enteric phase. Enlarged draining antimesenteric jejunal veins (yellow arrows).

The second image shows marker (Chevron) at the site of the ablated jejunal lesions using balloon-assisted endoscopy. Mesenteric smudging (congestion) is also noted.

Case Discussion

This patient had a balloon-assisted endoscopy which confirmed the jejunal angioectasia and the lesions were ablated with a marker applied to the site of intervention. Congestive enteropathy was also noted at endoscopy.

Angioectasia is the most common cause of obscure gastrointestinal bleeding.

they consist of thin tortuous veins that lack an internal elastic layer.

peak incidence: 7th and 8th decades of life

Endoscopy: angioectasias consist of punctate or patchy areas of erythema, 2–10 mm in size.

CT: focal punctate or discoid areas of enhancement <5 mm in size or bulbous swelling of the intramural vessels in the wall of the small bowel, especially in the jejunum.Enhancement is brightest during the enteric phase and fades somewhat during the delayed phase. These lesions don’t enhance during the arterial phase, which distinguishes them from arterial lesions.

Question 225

spider web appearance of hepatic veins on angiogram

Answer 225

Budd-Chiari

Question 226

non-decompressible varicocele

Answer 226

look in belly for badness

Question 227

right-sided varicocele

Answer 227

look in belly for badness

Question 228

swollen left leg

Answer 228

May Thurner

Question 229

popliteal aneurysm

Answer 229

look for AAA (and the other leg)

Question 230

most dreaded complication of popliteal aneurysm

Answer 230

distal emboli

Question 231

great saphenous vein on the wrong side of the calf - lateral side

Answer 231

Marginal vein of Servelle (supposedly pathognomonic for Klippel-Trenaunay)

Klippel-Tranuanay Syndrome is a rare sporadic disease characterized by clinical triad of capillary malformation; soft tissue and bony hypertrophy; and atypical varicosity. KTS is most commonly a sporadic event. Several theories have been proposed, including Servelle’s theory of a primary obstruction of the venous system resulting in venous hypertension and therefore development of abnormal venous pathways and tissue overgrowth. Failure of regression of the lateral limb bud vein is another mechanism. Alteration of the tight balance between angiogenesis and vasculogenesis, which is controlled by numerous genes, among other theories. Berry et al in 1998 speculated that in KTS there is an alteration in vascular remodelling, perhaps at the level of altered angiopoietin-2 antagonism. The classic clinical triad includes capillary malformations (port wine stain), a usually longer and larger extremity because of soft tissue and bone hypertrophy atypical mostly lateral superficial varicosity. Patients with at least two of the three cardinal features have been classified as having an incomplete form of KTsyndrome. Deep vein anomalies like venous hypoplasia to frank aneurysm, valve hypoplasia to avalvulia have been decribed.Lymphatic malformations have also been prevalent. The venous malformations frequently present as persistence of embryonic veins, of which the lateral marginal vein (the vein of Servelle) has been the most typical findingfound in 68-80% of patients.This vein originates from the lateral aspect of the foot and courses upwards along the lateral border of the leg. The vein is usually thick walled and strong, it is located immediately under the skin and it is incompetent along its entire length due to the absence of venous valves.Varicose veins and venous malformations can involve abdominal and pelvic organs. Genitourinary manifestations may present as intrapelvic and retroperitoneal vascular malformations and affect the penis, scrotum, vagina or vulva, and bladder

Question 232

Asian Vasculitis

Answer 232

Takayasu

Takayasu’s arteritis - Symptoms and causes - Mayo Clinic

https://www.mayoclinic.org › syc-20351335

6 Mar 2019 — Takayasu’s arteritis (tah-kah-YAH-sooz ahr-tuh-RIE-tis) is a rare type of vasculitis, a group of disorders that cause blood vessel inflammation. In Takayasu’s arteritis, the inflammation damages the aorta — the large artery that carries blood from your heart to the rest of your body — and its main branches.

Question 233

kids with vertigo and aortitis

Answer 233

Cogan syndrome

Cogan syndrome

Dr Daniel J Bell◉ and Dr Yuranga Weerakkody◉ et al.

Cogan syndrome is a rare vasculitis of young adults that is primarily characterised by 1,4,6:

inflammatory eye disease (classically interstitial keratitis) 6

audiovestibular dysfunction (similar to Meniere disease) 6

Epidemiology

Cogan syndrome is rare and can occur in people of any age and race. It most frequently presents in young adults in their late 20s or early 30s.

Clinical presentation

Typical Cogan syndrome manifests with interstitial keratitis and audiovestibular symptoms similar to Meniere disease (tinnitus, vertigo, and hearing loss). Auditory symptoms can precede or follow eye disease, usually within two years.

Atypical Cogan syndrome presents with other types of inflammatory eye disease (such as uveitis, scleritis, and optic neuritis), audiovestibular symptoms that may not resemble Meniere disease, and longer intervals between the onset of ocular and vestibuloauditory disease. However, this distinction may not carry prognostic significance.

A substantial minority of patients also develop systemic vasculitis 7. Common systemic symptoms include headache, arthralgia/arthritis, myalgia, fever, and fatigue. The most characteristic cardiovascular manifestation is aortitis 4.

Pathology

Aetiology

An autoimmune reaction to the eyes and audiovestibular structures has been postulated, possibly triggered by an upper respiratory tract infection.

Microscopic appearance

Vestibulocochlear structures demonstrate endolymphatic hydrops with the perilymphatic compartments filled with loose fibrous tissue.

Radiographic features

CT

calcific or soft tissue attenuation obliterating the intralabyrinthine fluid spaces 2

MRI

T1: high signal in the membranous labyrinth of the inner ear

T1 C+ (Gd): enhancement of the membranous labyrinth

T2: soft tissue obliteration or narrowing of the intralabyrinthine fluid spaces 2

Treatment and prognosis

Treatment consists of immunosuppression, starting with glucocorticoids and adding other immunosuppressive agents depending on the severity of the condition.

The course of the disease varies significantly from patient to patient. In some patients, there is an initial flare, which may last several weeks to months. Following this, there may be a slowly progressive course in some patients while others have a course of complete remission with intermittent episodes of disease activity.

Life-threatening aortic insufficiency develops in 10% of reported cases. Blindness occurs in less than 5% of patients. Deafness is a frequent and debilitating outcome occurring in up to 54% of patients.

History and etymology

It was initially described by David Glendenning Cogan (1908-1993), American ophthalmologist, in 1945 5,9.

Differential diagnosis

The differential consists of inflammatory causes of both eye and inner ear disease:

sarcoidosis

syphilis

Whipple disease

rheumatoid arthritis

Sjögren syndrome

systemic lupus erythematosus

systemic vasculitides, such as polyarteritis nodosa and granulomatosis with polyangiitis

relapsing polychondritis

Behcet syndrome

Vogt-Koyanagi-Harada syndrome

inflammatory bowel disease

The differential for systemic vasculitis affecting large vessels is primarily Takayasu arteritis.

Practical points

prompt recognition and exclusion of other diseases with similar presentation

prompt treatment with glucocorticoids and secondary-line immunosuppressive therapy if not responsive

awareness of the development of vasculitis, and particularly aortitis, with associated complications

Question 234

nasal perforation + cavitary lung lesions

Answer 234

Wegeners

Question 235

diffuse pulmonary hemorrhage

Answer 235

microscopic polyangitis

Microscopic polyangiitis

davide giusti and Dr Yuranga Weerakkody◉ et al.

Microscopic polyangiitis (MPA) is small vessel non-granulomatous necrotising vasculitis. It most often affects venules, capillaries, arterioles, and small arteries, although it occasionally involves medium-sized arteries.

Epidemiology

It typically affects middle-aged individuals.

Clinical presentation

This condition can affect multiple organ systems. Common sites of involvement are:

kidneys: necrotising glomerulonephritis (present in ~90% of cases 1)
lungs: pulmonary capillaritis
skin: purpura

gastrointestinal tract

Pathology

It is histologically very similar to polyarteritis nodosa except for involvement of vessels smaller than arteries (e.g. arterioles, venules, capillaries)

There is an absence or paucity of immunoglobulin localisation in vessel walls which distinguishes MPA from immune complex-mediated small vessel vasculitis (e.g. Henoch-Schonlein purpura and cryoglobulinaemic vasculitis)

Markers

pANCA-positive in a significant (~70-90%) proportion of cases

Subtypes

Some classify two conditions as organ-specific subsets of this condition 7:

lung-isolated idiopathic pauci-immune pulmonary capillaritis

kidney-idiopathic pauci-immune rapidly progressive glomerulonephritis (RPGN)

Radiographic features

Pulmonary involvement

There can be a spectrum of findings which typically include pulmonary haemorrhage:

diffuse pulmonary haemorrhage: seen in 30-40% of cases 2,3

haemorrhages can be relapsing

Other described manifestations (which are non-specific as individual features) include 9:

regions of ground-glass attenuation

pulmonary consolidation

thickening of bronchovascular bundles

features of interstitial pneumonitis 12 / pulmonary fibrosis 11

honeycombing

traction bronchiectasis

Treatment and prognosis

Treatment options in severe forms usually include methylprednisolone +/- cyclophosphamide. Other management options include tumour necrosis factor-alpha blockers rituximab, and nonpharmacologic modalities such as plasmapheresis and ventilatory management 9.

With treatment, there is often complete remission of the disease in a majority of cases.

Differential diagnosis

The differential can be broad dependant on the type of manifestations and feature.

For lung involvement consider:

eosinophilic granulomatosis with polyangiitis:

has asthma and eosinophilia

granulomatosis with polyangiitis:

granulomatous vasculitis

can cavitate

Goodpasture syndrome

circulating antiglomerular basement membrane (anti-GBM)

pulmonary haemorrhage (ground glass, airspace opacities and reticular “crazy paving”)

History and etymology

It is thought to have been initially described by Friedrich Wohlwill (1881-1958), a German physician, in 1923 10.

See also

pulmonary vasculitides

Question 236

smoker + hand angiogram

Answer 236

Buergers

Buerger disease

Dr Daniel J Bell◉ and Radswiki◉ et al.

Buerger disease, also known as thromboangiitis obliterans, is a chronic, non-atherosclerotic, inflammatory, thrombotic arteritis found predominantly in young male smokers.

Clinical presentation

Patients may initially present with nonspecific symptoms such as hand and foot claudication, which eventually progresses to ischaemic ulceration. A biopsy is often necessary to make the diagnosis because the imaging appearance and symptoms overlap with those of atherosclerosis and other connective tissue diseases.

Pathology

Although it more commonly affects medium and small vessels of the lower extremities, upper extremity involvement may also be seen. Venous involvement can be seen in 25% of cases.

Associations

superficial thrombophlebitis 4

Radiographic features

Angiography

Characteristic angiographic findings include:

extensive arterial occlusive disease

corkscrew collateral vessels

more than one limb is usually affected

predominantly the lower limbs

intervening normal arteries

sparing of the larger inflow vessels

Corkscrew collateral vessels are not, however, pathognomonic for Buerger disease as they may be seen in patients with connective tissue disease.

Differential diagnosis

Imaging differential considerations include:

atherosclerosis

connective tissue diseases

systemic lupus erythematosus (SLE)

mixed connective tissue disease

scleroderma

CREST syndrome

rheumatoid arthritis

Question 237

construction worker + hand angiogram

Answer 237

hypothenar hammer Syndrome

Fig. 1. A, Arteriogram of symptomatic hand in a patient with digital artery occlusion (small arrows ) and an abnormal palmar ulnar artery segment (large arrow ). B, Contralateral, asymptomatic hand, which also has an abnormal palmar ulnar artery (arrow ).

Abstract

Purpose: Finger ischemia caused by embolic occlusion of digital arteries originating from the palmar ulnar artery in a person repetitively striking objects with the heel of the hand has been termed hypothenar hammer syndrome (HHS). Previous reports have attributed the arterial pathology to traumatic injury to normal vessels. A large experience leads us to hypothesize that HHS results from trauma to intrinsically abnormal arteries. Methods: We reviewed the arteriography, histology, and clinical outcome of all patients treated for HHS in a university clinical research center study of hand ischemia, which prospectively enrolled more than 1300 subjects from 1971 to 1998. Results: Twenty-one men had HHS. All had occupational (mechanic, carpenter, etc) or avocational (woodworker) exposure to repetitive palmar trauma. All patients underwent upper-extremity and hand arteriography, unilateral in eight patients (38%) and bilateral in 13 patients (62%). By means of arteriogram, multiple digital artery occlusions were shown in the symptomatic hand, with either segmental ulnar artery occlusion in the palm or characteristic “corkscrew” elongation, with alternating stenoses and ectasia. Similar changes in the contralateral asymptomatic (and less traumatized) hand were shown by means of 12 of 13 bilateral arteriograms (92%). Twenty-one operations, consisting of segmental ulnar artery excision in the palm and vein grafting, were performed on 19 patients. Histology was compatible with fibromuscular dysplasia with superimposed trauma. Patency of arterial repairs at 2 years was 84%. One patient (5%) required amputative debridement of necrotic finger tips. No other tissue loss occurred. There have been no recurrences of ischemia in patients with patent bypass grafts. Conclusion: To our knowledge, this is the largest reported group of HHS patients. The characteristic angiographic appearance, histologic findings, and striking incidence of bilateral abnormalities in patients with unilateral symptoms lead us to conclude that HHS occurs when persons with preexisting palmar ulnar artery fibrodysplasia experience repetitive palmar trauma. This revised theory for the etiology of HHS explains why HHS does not develop in most patients with repetitive palmar trauma. (J Vasc Surg 2000;31:104-13.)

Question 238

unilateral tardus parvus in carotid

Answer 238

stenosis of innominate

Question 239

bilateral tardus parvus in carotids

Answer 239

aortic stenosis

Question 240

bilateral reversal of flow in carotids

Answer 240

aortic regurg

Question 241

lack of diastolic flow on carotid US

Answer 241

brain death

Question 242

IVC > 28 mm

Answer 242

mega cava

Question 243

mega cava

Answer 243

birds nest filter

Question 244

hairpin turn during bronchial angiography

Answer 244

anterior medullary (spinal cord) artery

Question 245

fever WBC and Nausea vomiting after uterine artery embo

Answer 245

post embolization syndrome (obviously could also be infection)

Question 246

most medial vessel in the leg

Answer 246

posterior tibial artery

Question 247

source of 85% of upper GI bleeds

Answer 247

left gastric artery

Question 248

source of bleeding from duodenal ulcer

Answer 248

GDA

Question 249

pulmonary AVM

Answer 249

HHT

Question 250

most feared complication of bronchial artery embolization

Answer 250

spinal cord infarct

Question 251

high risk of bleeding for liver transplant

Answer 251

transjugular approach

Question 252

most feared complication of brachial arterial access

Answer 252

compartment syndrome

Question 253

cold painful fingers during dialysis

Answer 253

steal syndrome

Question 254

ulcer on medial ankle

Answer 254

venous stasis

Question 255

ulcer on dorsum of foot

Answer 255

ischemia or infected ulcer

Question 256

ulcer on plantar surface of foot

Answer 256

neutropenic ulcer

Question 257

hot clumps of signal in lungs on Liver Spleen sulfur colloid

Answer 257

too much Al in the Tc

Question 258

HOT spleen

Answer 258

WBC scan or octreotide (sulfur colloid will be a warm spleen)

Question 259

bone scan with hot skull sutures

Answer 259

renal osteodystrophy

Question 260

bone scan with focal breast uptake

Answer 260

breast CA

Question 261

bone scan with renal cortex activity

Answer 261

hemochromatosis

Question 262

bone scan with liver activity

Answer 262

too much Al amyloid hepatoma or liver necrosis

Question 263

bone scan with sternal lesion

Answer 263

breast CA

Question 264

bone scan with diffusely decreased bone uptake

Answer 264

free Tc or bisphosphonate rx

Question 265

tramline along periosteum of long bones

Answer 265

lung CA

Question 266

super hot mandible in adult

Answer 266

fibrous dysplasia

Question 267

super hot mandible in child

Answer 267

Caffeys

Question 268

periarticular uptake on delayed scan

Answer 268

RSD

Question 269

focal uptake along lesser trochanter

Answer 269

prosthesis loosening

Question 270

tracer in brain on VQ study

Answer 270

shunt

Question 271

tracer over the liver on ventilation with Xenon

Answer 271

fatty liver

Question 272

gallium negative and thallium postiive

Answer 272

Kaposi

Question 273

high T3 and high T4, low TSH - low thyroid uptake

Answer 273

Quervains (granulomatous thyroiditis)

Question 274

persistent tracer in the lateral ventricles > 24 hours

Answer 274

NPH

Question 275

renal uptake on sulfur colloid

Answer 275

CHF

Question 276

renal transplant uptake on sulfur colloid

Answer 276

rejection

Question 277

filtered renal agent

Answer 277

DTPA (or GH)

Question 278

secreted renal agent

Answer 278

MAG-3

Question 279

PET with increased muscle uptake

Answer 279

insulin

Question 280

diffuse FDG uptake in thyroid on PET

Answer 280

Hashimoto

Question 281

I see the skeleton on MIBG

Answer 281

diffuse neuroblastoma bone mets

Question 282

cardiac tissue taking up FDG more intensely than normal myocardium

Answer 282

hibernating myocardium

Question 283

made with a generator

Answer 283

Tc99 and Rubidium

Question 284

cervical kyphosis

Answer 284

NF-1

Question 285

lateral thoracic meningocele

Answer 285

NF-1

Question 286

bilateral optic nerve gliomas

Answer 286

NF-1

Question 287

bilateral vestibular schwannomas

Answer 287

NF-2

Question 288

retinal hamartoma

Answer 288

TS

Question 289

retinal angioma

Answer 289

VHL

Question 290

brain tumor with restricted diffusion

Answer 290

lymphoma

Question 291

brain tumor crossing midline

Answer 291

GBM or lymphoma

Question 292

cyst and nodule in child

Answer 292

pilocytic astrocytoma

Question 293

cyst and nodule in adult

Answer 293

hemangioblastoma

Question 294

multiple hemangioblastoma

Answer 294

VHL

Question 295

swiss cheese tumor in ventricle

Answer 295

central neurocytoma

Question 296

CN3 palsy

Answer 296

posterior communicating artery aneurysm

Question 297

CN6 palsy

Answer 297

increased ICP

Question 298

ventricles out of size to atrophy

Answer 298

NPH

Question 299

hemorrhagic putamen

Answer 299

methanol

Question 300

decreased FDG uptake in lateral occipital cortex

Answer 300

Lewy Body dementia

Question 301

TORCH with periventricular calcification

Answer 301

CMV

Question 302

TORCH with hydrocephalus

Answer 302

toxoplasmosis

Question 303

TORCH with hemorrhagic infarction

Answer 303

HSV

Question 304

Neonatal infection with frontal lobe atrophy

Answer 304

HIV

Question 305

rapidly progressing dementia + rapidly progressing atrophy

Answer 305

CJD

Question 306

expanding the cortex

Answer 306

oligodendroglioma

Question 307

tumor acquired after trauma (LP)

Answer 307

epidermoid

Question 308

palate separated from maxilla/floating palate

Answer 308

LeFort 1

Question 309

maxilla separated from the face or “pyramidal”

Answer 309

LeFort 2

Question 310

face separated from the cranium

Answer 310

LeFort 3

Question 311

airless expanded sinus

Answer 311

mucocele

Question 312

DVA

Answer 312

cavernous malformation nearby

Question 313

single vascular lesion in the pons

Answer 313

capillary telangiectasia

Question 314

elevated NAA peak

Answer 314

Canavans

Question 315

tigroid appearance

Answer 315

metachromatic leukodystrophy

Question 316

endolymphatic sac tumor

Answer 316

VHL

Question 317

T1 bright in the petrous apex

Answer 317

cholesterol granuloma

Question 318

restricted diffusion in the petrous apex

Answer 318

cholesteatoma

Question 319

lateral rectus palsy + otomastoiditis

Answer 319

Gradenigo synddrome

Question 320

cochlear and semicircular canal enhancement

Answer 320

Labyrinthitis

Question 321

conductive hearing loss in adult

Answer 321

otosclerosis/otospongiosis

Question 322

noise-induced vertigo

Answer 322

superior semicircular canal dehiscence (Tullio phenomenon)

Question 323

widening of the maxillary ostium

Answer 323

antrochoanal polyp

Question 324

inverting papilloma

Answer 324

squamous cell CA (10%)

Question 325

adenoid cystic

Answer 325

perineural spread

Question 326

left-sided vocal cord paralysis

Answer 326

look in AP window

Question 327

bilateral coloboma

Answer 327

CHARGE syndrome

Question 328

retinal detachment + small eye

Answer 328

PHPV

Question 329

bilateral small eye

Answer 329

retinopathy of prematurity

Question 330

calcification in the globe of a child

Answer 330

retinoblastoma

Question 331

fluid-fluid levels in orbit

Answer 331

lymphangioma

Question 332

orbital lesion worse with Valsalva

Answer 332

varix

Question 333

pulsatile exophthalmos

Answer 333

NF-1 and CC fistula

Question 334

sphenoid wing dysplasia

Answer 334

NF-1

Question 335

scimitar sacrum

Answer 335

Currarino triad

Question 336

bilateral symmetrically increased T2 signal in dorsal columns

Answer 336

B12 (or HIV)

Question 337

Owl eye appearance of spinal cord

Answer 337

spinal cord infarct

Question 338

enhancement of nerve roots of cauda equina

Answer 338

Guillain Barre

Question 339

subligamentous spread of infection

Answer 339

TB

Question 340

posterior elbow dislocation

Answer 340

capitellum fracture

Question 341

chondroblastoma in adult

Answer 341

clear cell chondrosarcoma

Question 342

malignant epiphyseal lesion

Answer 342

clear cell chondrosarcoma

Question 343

permeative lesion in diaphysis of child

Answer 343

Ewings

Question 344

T2 bright lesion in sacrum

Answer 344

chordoma

Question 345

lytic T2 dark lesion

Answer 345

fibrosarcoma

Question 346

sarcomatous transformation of an infarct

Answer 346

MFH

Question 347

epiphyseal lesion that is NOT T2 bright

Answer 347

chondroblastoma

Question 348

short 4th metacarpal

Answer 348

pseudopseudohypoparathyroidism and Turners

Question 349

band-like acro-osteolysis

Answer 349

Hajdu-Cheney

Question 350

fat-containing tumor in the retroperitoneum

Answer 350

liposarcoma

Question 351

sarcoma in the foot

Answer 351

synovial sarcoma

Question 352

avulsion of the lesser trochanter

Answer 352

pathologic fracture

Question 353

cross over sign

Answer 353

pincer type FAI

Question 354

Segond fracture

Answer 354

ACL tear

Question 355

reverse Segond fracture

Answer 355

PCL tear

Question 356

arcuate sign

Answer 356

fibular head avulsion or PCL tear

Question 357

deep intercondylar notch

Answer 357

ACL tear

Question 358

bilateral patellar tendon ruptures

Answer 358

chronic steroids

Question 359

wide ankle mortise

Answer 359

show me proximal fibula (Maisonneuve)

Question 360

bilateral calcaneal fractures

Answer 360

show me spinal compression fracture (“lover’s leap”)

Question 361

dancer with lateral foot pain

Answer 361

avulsion of 5th MT

Question 362

old lady with sudden knee pain with standing

Answer 362

SONK

Question 363

Looser’s zones

Answer 363

osteomalacia or rickets (vitamin D)

Question 364

unilateral RA with preserved joint spaces

Answer 364

RSD

Question 365

T2 bright tumor in finger

Answer 365

glomus

Question 366

blooming in tumor in finger

Answer 366

giant cell tumor of tendon sheath (PVNS)

Question 367

atrophy of teres minor

Answer 367

quadrilateral space syndrome

Question 368

subluxation of biceps tendon

Answer 368

subscapularis tear

Question 369

too many bow ties

Answer 369

discoid meniscus

Question 370

celery stalk ACL - T2

Answer 370

mucoid degeneration

Question 371

drumstick ACL - T1

Answer 371

mucoid degeneration

Question 372

acute flat foot

Answer 372

posterior tibial tendon tear

Question 373

boomerang-shaped peroneus brevis

Answer 373

tear or split tear

Question 374

meniscoid mass in lateral gutter of ankle

Answer 374

anterolateral impingement syndrome

Question 375

scar between 3rd and 4th metetarsals

Answer 375

Morton neuroma

Question 376

osteomyelitis in spine

Answer 376

IV drug user

Question 377

psoas muscle abscess

Answer 377

TB

Question 378

rice bodies in joint

Answer 378

TB - sloughed synovium

Question 379

calcification along periphery

Answer 379

myositis ossificans

Question 380

calcifications more dense in the center

Answer 380

osteosarcoma - reverse zoning

Question 381

permeative lesion in the diaphysis of child

Answer 381

Ewings

Question 382

long lesion in a long bone

Answer 382

fibrous dysplasia

Question 383

large amount of edema for size of lesion

Answer 383

osteoid osteoma

Question 384

cystic bone lesion that is NOT T2 bright

Answer 384

chondroblastoma

Question 385

lesion in finger of a kid

Answer 385

periosteal chondroma

Question 386

looks like NOF in anterior tibia with anterior bowing

Answer 386

osteofibrous dysplasia

Question 387

RA + pneumoconiosis

Answer 387

Caplan syndrome

Question 388

RA + big spleen + neutropenia

Answer 388

Felty syndrome

Question 389

epiphyseal overgrowth

Answer 389

JRA (or hemophilia)

Question 390

reducible deformity of joints in hand

Answer 390

lupus

Question 391

destructive mass in bone of a leukemia patient

Answer 391

chloroma

Question 392

shrinking breast

Answer 392

ILC

Question 393

thick Coopers ligaments

Answer 393

edema (CHF)

Question 394

thick fuzzy Coopers ligaments - with normal skin

Answer 394

blur

Question 395

dashes but not dots

Answer 395

secretory calcs

Question 396

cigar-shaped calcs

Answer 396

secretory calcs

Question 397

popcorn calcs

Answer 397

degenerated fibroadenoma

Question 398

breast within a breast

Answer 398

hamartoma

Question 399

fat-fluid level

Answer 399

galactocele

Question 400

rapidly growing fibroadenoma

Answer 400

Phyllodes

Question 401

swollen red breast not responding to antibiotics

Answer 401

inflammatory breast CA

Question 402

lines radiating to single point

Answer 402

architectural distortion

Question 403

architectural distortion + calcs

Answer 403

IDC + DCIS

Question 404

architectural distortion without calcs

Answer 404

ILC

Question 405

stepladder sign

Answer 405

intracapsular rupture on US

Question 406

linguine sign

Answer 406

intracapsular rupture on MRI

Question 407

residual calcs in lumpectomy bed

Answer 407

local recurrence

Question 408

no calcs in the core

Answer 408

milk of calcium (requires polarized light to be seen)

Question 409

subglottic haemangioma

Answer 409

PHACES Syndrome

Question 410

PHACES Syndrome

Answer 410

Cutaneous Hemangioma

PHACE syndrome, also known as cutaneous haemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome, is a phakomatosis that comprises of:

• P: posterior fossa malformations (e.g. Dandy-Walker malformation)
• H: haemangiomas
• A: arterial anomalies
• C: coarctation of the aorta and cardiac anomalies
• E: eye (ocular) anomalies
• When sternal clefting and/or supraumbilical raphe are also present it is termed PHACES syndrome.

Clinical presentation

• Clinical diagnosis of PHACE syndrome requires the presence of a characteristic segmental haemangioma or haemangioma >5 cm on the head (face or scalp) plus 1 major criterion or 2 minor criteria 5.

Major criteria:

• cerebrovascular:
• anomaly of major cerebral arteries
• dysplasia of the large cerebral arteries
• arterial stenosis or occlusion with or without moyamoya collaterals
• absence or moderate-severe hypoplasia of the large cerebral arteries
• aberrant origin or course of the large cerebral arteries
• persistent trigeminal artery
• saccular aneurysms of any cerebral arteries

brain: posterior fossa anomalies

• Dandy-Walker complex
• cerebellar hypoplasia/dysplasia

ocular: posterior segment anomalies

• persistent fetal vasculature
• retinal vascular anomalies
• morning glory disc anomaly
• optic nerve hypoplasia
• peripapillary staphyloma
• coloboma

cardiovascular:

• aortic arch anomaly
• aberrant course or origin of supra-aortic arteries
• ventral or midline: sternal defects or supraumbilical raphe

Minor criteria:

• cerebrovascular: persistent embryonic artery (carotid-vertebrobasilar anastomosis) other than trigeminal artery

brain:

• extra-axial intracranial haemangioma

midline anomaly

• neuronal migration disorder
  ocular: anterior segment anomalies
• sclerocornea
• cataract
• coloboma
• microphthalmia

cardiovascular:

• ventricular septal defect
• right aortic arch

ventral or midline:

• hypopituitarism
• ectopic thyroid

Historic and etymology

• Initially, this syndrome was described as an association of large cutaneous haemangiomas of the head and anomalies of the cerebral vasculature by Pascual-Castroviejo in 1978 7,8. Subsequently, the name PHACE syndrome was coined by Ilona Frieden et al 2.

Question 411

Ropy Appearance

Answer 411

Meconium Aspiration

Meconium aspiration occurs secondary to intrapartum or intrauterine aspiration of meconium, usually in the setting of fetal distress, often in term or post-term infants.

Epidemiology

Up to 10-15% of live births after 34 weeks can present with meconium stained fluid but only 1-5% of neonates develop meconium aspiration. There is no gender predilection.

Clinical presentation

There is commonly a history of meconium stained fluid at birth. Depending on the length of exposure, meconium skin staining may be present.

Neonates typically present with respiratory distress and varying degrees of hypoxia. Wheezing, hypercarbia and cyanosis may develop depending on the severity of the condition.

Pathology

Aspirated meconium can cause small airways obstruction and a chemical pneumonitis.

Radiographic features

Plain radiograph

increased lung volumes

hyperinflated lungs with flattened hemidiaphragms

secondary to distal small airway obstruction and gas trapping

asymmetric patchy pulmonary opacities

due to subsegmental atelectasis

may be ‘rope like’

pleural effusions can be seen

pneumothorax or pneumomediastinum in 20-40% of cases

due to increased alveolar tension from obstructed airways

multifocal consolidation

due to chemical pneumonitis

Treatment and prognosis

Treatment usually involves suction of secretions and intubation and ventilation. Mortality can be as high as 10-20% in those with resulting severe pulmonary parenchymal disease.

Question 413

Post term delivery

Answer 413

Meconium aspiration

Question 414

Fluid in the fissures

Answer 414

TTN

Question 415

History of c-section

Answer 415

TTN

Question 416

Maternal sedation

Answer 416

TTN

Question 417

GRandular opacities and Premature

Answer 417

RDS

Question 418

Granular opacities + term + low lung volume

Answer 418

B-Hemolytic Strep

Question 419

Band like opacities

Answer 419

Chronic lung disease/Bronchopulmonary dysplasia

Bronchopulmonary dysplasia

Dr Milo MacBain◈ and Dr Yuranga Weerakkody◉ et al.

Bronchopulmonary dysplasia (BPD) refers to late pathological lung changes that develop in infants after several weeks on prolonged ventilation.

Terminology

BPD and chronic lung disease of prematurity (CLDP) have often been used interchangeably to describe the condition post-treatment of premature infants for respiratory distress syndrome. However, some suggest that there are different underlying pathogeneses and that CLDP encompasses other conditions besides BPD 12,13.

Pathology

It is the result of a paradoxical combination of hypoxia and oxygen toxicity. There is initial capillary wall damage, interstitial fluid seepage and ensuing pulmonary oedema, which is followed by loss of ciliated epithelium and bronchiolar mucosal necrosis. Areas of both hyperexpansion and atelectasis are seen. This is followed by eosinophilic exudate and squamous metaplasia and may ultimately lead to interstitial fibrosis/fibro-proliferative bronchiolitis.

Radiographic features

Plain radiograph

ill-defined reticular markings with interspersed rounded lucent areas diffusely involving hyperinflated lungs

the lungs may have relatively normal AP diameter on the lateral film

presence of cardiomegaly may indicate the development of pulmonary hypertension

in chronic cases, the lateral film may show a much narrower AP diameter compared with the chest width on the frontal film

CT

mosaic lung parenchymal pattern with areas of low attenuation and focal air trapping on expiratory HRCT (considered the most sensitive finding for predicting severity)

bronchial wall thickening (considered the most frequent finding)

small subpleural triangular/linear opacities

Bronchiectatic changes are usually not considered a feature 4.

Treatment and prognosis

Infants who survive neonatal bronchopulmonary dysplasia often show a slow but continuous improvement in respiratory status. Young adult survivors who have had moderate and severe bronchopulmonary dysplasia may have residual functional and characteristic structural pulmonary abnormalities; of these, the most notable is pulmonary emphysema 7.

Differential diagnosis

General imaging differential considerations include:

• pulmonary interstitial emphysema (has an acute course)
• neonatal pneumonia
• Wilson-Mikity syndrome

Question 420

linear lucencies

Answer 420

Pulmonary interstitial emphysema

Bronchopulmonary dysplasia

Dr Milo MacBain◈ and Dr Yuranga Weerakkody◉ et al.

Bronchopulmonary dysplasia (BPD) refers to late pathological lung changes that develop in infants after several weeks on prolonged ventilation.

Terminology

BPD and chronic lung disease of prematurity (CLDP) have often been used interchangeably to describe the condition post-treatment of premature infants for respiratory distress syndrome. However, some suggest that there are different underlying pathogeneses and that CLDP encompasses other conditions besides BPD 12,13.

Pathology

It is the result of a paradoxical combination of hypoxia and oxygen toxicity. There is initial capillary wall damage, interstitial fluid seepage and ensuing pulmonary oedema, which is followed by loss of ciliated epithelium and bronchiolar mucosal necrosis. Areas of both hyperexpansion and atelectasis are seen. This is followed by eosinophilic exudate and squamous metaplasia and may ultimately lead to interstitial fibrosis/fibro-proliferative bronchiolitis.

Radiographic features

Plain radiograph

ill-defined reticular markings with interspersed rounded lucent areas diffusely involving hyperinflated lungs

the lungs may have relatively normal AP diameter on the lateral film

presence of cardiomegaly may indicate the development of pulmonary hypertension

in chronic cases, the lateral film may show a much narrower AP diameter compared with the chest width on the frontal film

CT

mosaic lung parenchymal pattern with areas of low attenuation and focal air trapping on expiratory HRCT (considered the most sensitive finding for predicting severity)

bronchial wall thickening (considered the most frequent finding)

small subpleural triangular/linear opacities

Bronchiectatic changes are usually not considered a feature 4.

Treatment and prognosis

Infants who survive neonatal bronchopulmonary dysplasia often show a slow but continuous improvement in respiratory status. Young adult survivors who have had moderate and severe bronchopulmonary dysplasia may have residual functional and characteristic structural pulmonary abnormalities; of these, the most notable is pulmonary emphysema 7.

Differential diagnosis

General imaging differential considerations include:

pulmonary interstitial emphysema (has an acute course)

neonatal pneumonia

Wilson-Mikity syndrome

Question 421

Granular opacities + Term and high lung volume

Answer 421

Pneumonia

Question 422

lung cysts and nodules

Answer 422

LCH or papillomatosis

Case 1 LCH

Pulmonary Langerhans cell histiocytosis

Dr Joachim Feger◉ and Dr Vinod G Maller et al.

Pulmonary Langerhans cell histiocytosis (PLCH) may be seen as part of widespread involvement in patients with disseminated Langerhans cell histiocytosis or more frequently as a distinct entity in young adult smokers. This article focuses on the latter.

Epidemiology

Pulmonary Langerhans cell histiocytosis is usually identified in young adults (20-40 years of age). A history of current or previous cigarette smoking is identified in up to 95% of cases 1,4. It is a rare disorder with no well-established gender predilection, which appears to be more common in Caucasian populations 4.

Associations

• Haematopoietic neoplasms:
• acute lymphoblastic leukaemia (ALL) 11,12
• acute myeloid leukaemia (AML) 10

Clinical presentation

Presentation is usually with dyspnoea or non-productive cough. Other symptoms include constitutional symptoms (fatigue and weight loss), pleuritic chest pain, or spontaneous pneumothorax 1,4. Up to a quarter of patients are asymptomatic.

Pathology

Langerhans cells proliferate in the bronchiolar and bronchial epithelium, forming granulomas. It is postulated that as these cellular granulomas evolve, peripheral fibrosis forms resulting in traction on the central bronchiole which becomes cyst-like 3. This explains the presumed evolution from a nodule, through cavitating nodule and thick-walled cysts, to the ‘stable’ thin-walled cysts 3,4. An immune-mediated mechanism has been postulated, although an inciting agent has not been isolated 4. This proliferation is accompanied by inflammation and granuloma formation. Electron microscopy may reveal characteristic Birbeck granules 1,2.

More recent evidence suggests that pulmonary Langerhans cell histiocytosis represents a myeloid neoplasm with inflammatory properties 9.

Radiographic features

• Pulmonary Langerhans cell histiocytosis has variable appearance depending on the stage of the disease, ranging from small peribronchiolar nodular opacities to multiple irregularly-shaped cysts. There is a mid and upper zone predilection 1,3,4.

Plain radiograph

• The earliest change is a diffuse bilateral symmetrical reticulonodular pattern with a predilection for the mid and upper zones. The ill-defined nodules range from 1-10 mm in size. Later, cyst formation may be seen or may mimic a honeycomb appearance due to a summation of air-filled cysts. Cysts can be identified in only 1-15% of cases 1, and range from 1-3 cm in diameter. There is a preservation of lung volumes or even hyperinflation 1,3,4. Reduced lung volumes are uncommon and only seen in end-stage fibrotic cases 4. Lymph node enlargement visible on chest x-rays is rare 4.

CT

• As is usually the case, CT and especially HRCT is superior to plain chest radiography in identifying both the reticulonodular opacities and cysts 1,3,4. Distribution is the key in differentiating pulmonary Langerhans cell histiocytosis from other cystic lung diseases with a predilection for the mid and upper zones and regional sparing of the costophrenic recesses, anterior right middle lobe and lingula left upper lobe 1,3,4.
• nodules
  
  • more pronounced early in the disease
  • may range in number from a few to innumerable
  • 1-10 mm in diameter (typically 1-5 mm 4)
  • centrilobular distribution - may also be peribronchial or peribronchiolar
  • usually have irregular margins
  • may be cavitary nodules with thick walls, later becoming cysts
  • surrounding lung parenchyma appears normal
• cysts
  
  • more pronounced later in the disease
  • usually less than 10 mm in diameter
  • may measure up to 2-3 centimetres in size
  • the extreme bases may be preserved
  • usually thin-walled, but on occasion may be up to a few millimetres thick
  • confluence of 2 or more cysts results in bizarre shapes
    
    • bilobed
    • cloverleaf
    • branching
    • internal septations
• Other common findings include 1,3:
  
  • ground-glass and/or reticular opacities
  • DIP-like change 1
  • mosaic attenuation
  • septal line thickening
  • emphysema
• In late disease, other findings include:
  
  • coalescent cysts
  • fibrosis
  • honeycombing

The appearance of new nodules later in the disease (when cystic change is established) indicates disease progression but is a rare finding 3.

Treatment and prognosis

• Overall prognosis is generally good with over 50% of patients demonstrating spontaneous resolution or stabilisation even without treatment 3. This is especially the case in patients who stop smoking.
• In a minority of patients (~20%) and more frequently in those who continue to smoke, the disease is progressive with deterioration in respiratory function and eventual end-stage pulmonary fibrosis 3.
• Treatment may not be required once smoking has ceased. Corticosteroids are frequently used and appear beneficial. In patients with rapidly progressive disease, no proven therapy has been found. In some selected patients lung transplantation may be an option, provided smoking has ceased. Recurrence in the transplanted lung has been described 4.

Complications

• cyst rupture
• spontaneous pneumothorax: may be the first presentation
• pneumomediastinum
• interstitial fibrosis
• pulmonary arterial hypertension and cor pulmonale
• end-stage pulmonary fibrosis and respiratory failure

Differential diagnosis

• Differential depends on whether the nodular or cystic change is the dominant feature.
• Early in the disease, when nodules are the dominant feature, consider:
• granulomatous disease
• granulomatosis with polyangiitis
• sarcoidosis
• metastases
• miliary tuberculosis
• See differential of multiple pulmonary nodules and differential of miliary opacities for more comprehensive lists.
• Later in the disease, when cysts are prominent, consider:
• lymphangiomyomatosis (LAM)
• diffuse distribution
• regular shaped and sized cysts
• cystic bronchiectasis from ABPA
• central distribution
• mucous plugging
• centrilobular emphysema
• lack of visible cyst wall 1-3
• Pneumocystis jiroveci pneumonia
• idiopathic pulmonary fibrosis
• basal and subpleural distribution
• reduced lung volumes
• lymphocytic interstitial pneumonitis (LIP)
• smooth-walled simple cysts
• associated with autoimmune disease

Papilomatosis Case 2 Key messages

Extra laryngeal spread in patients with recurrent respiratory papillomatosis is rare.

The radiographic features of respiratory papillomatosis are solid or cystic nodules predominantly in the lower lobes, tracheal wall irregularity due to scars and papillomas and bronchiectasis from obstruction and secondary infection.

Clinicians should suspect malignant transformation when growth of a pulmonary nodule or mass is detected by serial x-ray or CT.

Question 423

Lower lobe bronchiectasis

Answer 423

primary ciliary dyskinesia

Question 426

Pulmonary hypoplasia

Answer 426

Diaphragmatic hernia

Question 429

Upper lobe bronchiectasis

Answer 429

CF

Question 430

Posterior mediastinal mass under 2

Answer 430

Neuroblastoma

Question 431

No air in the stomach

Answer 431

Oesophageal atresia

Question 432

Excessive air in the stomach

Answer 432

H type TE fistula

Question 433

Anterior oesophageal Impression

Answer 433

Pulmonary sling

Question 434

Pulmonary sling

Answer 434

tracheal stenosis

Question 435

Single bubble

Answer 435

Gastric (antral or pyloric) atresia

Question 436

Double bubble

Answer 436

Duodenal atresia

Question 437

Duodenal atresia

Answer 437

Downs syndrome

Question 438

single bubble with distal gas

Answer 438

Maybe mid gut volvulus

Question 439

Nonbillious vomiting

Answer 439

Pyloric stenosis

Question 440

Paradoxical aciduria

Answer 440

Pyloric stenosis

Question 441

bilious vomiting in an infant

Answer 441

mid gut volvulus

Question 442

Reveres SMA and SMV

Answer 442

Malrotation

Question 443

Absent gall bladder

Answer 443

biliary atresia

Question 444

Triangle cord sign

Answer 444

biliary atresia

Question 445

Saw tooth colon

Answer 445

Hirschprungs

Barium enema demonstrates a reduced calibre rectum and sigmoid (the rectum is smaller than the descending colon) with a saw-tooth appearance to the wall. A transition point is seen at the junction between sigmoid and descending colon.

Question 446

Asplenia

Answer 446

Cyanotic heart disease

Question 447

Infarcted spleen

Answer 447

Sickle cell

Question 448

Gall stones

Answer 448

Sickle Cell

Question 449

Short microcolon

Answer 449

Colonic atresia

Question 450

Long microcolon

Answer 450

meconium ileus or distal ileal atresia

Question 452

Calcified mass in the mid abdomen of a newborn

Answer 452

meconium peritonitis

Question 453

Meconium ileus equivalent

Answer 453

distal intestinal obstruction syndrome (CF)

Question 454

Abrupt caliber change of the aorta below the celiac axis

Answer 454

hepatic hemangioendothelioma

Infantile hepatic haemangioma

Dr Ammar Haouimi◉ and Radswiki◉ et al.

Infantile hepatic haemangiomas (IHH) are liver lesions composed of large endothelial-lined vascular channels seen in fetuses and neonates. Not to be confused with hepatic epithelioid haemangioendothelioma, which occurs in older patients.

Terminology

These benign tumours were previously referred to as hepatic infantile haemangioendotheliomas, but as they are similar to haemangiomas elsewhere in the body, they have been reclassified as haemangiomas by the International Society for the Study of Vascular Anomalies (ISSVA).

Epidemiology

Infantile hepatic haemangiomas occur in fetuses and neonates and have been detected in utero as early as at 16 weeks of gestation. It is the most frequent liver mass in infants (<6 months).

Clinical presentation

Infantile hepatic haemangiomas have substantial arteriovenous shunting which may lead to fatal cardiovascular compromise and hydrops fetalis. It may present as hepatomegaly since the entire liver is involved in most cases.

In addition, fetuses may also develop haemolytic anaemia, thrombocytopenia, and consumptive coagulopathy (Kasabach-Merritt sequence).

If these tumours are not detected prenatally, neonates may present with unexplained congestive heart failure.

Pathology

Infantile hepatic haemangiomas are histologically similar to haemangiomas (strawberry naevus) but distinct from both adult type cavernous haemangiomas which are venous malformations and angiosarcomas.

Markers

In 3% of cases, there is elevated serum alpha-fetoprotein 6.

Associations

hypothyroidism: probably due to high levels of type 3-iodothyronine deiodinase activity produced by haemangiomas 3

haemangiomas elsewhere in 10% of cases

Radiographic features

Plain radiograph

Non-specific features such as hepatomegaly and liver calcifications, present in ~15% of the cases, may be seen. Indirect signs of congestive heart failure may be present on a chest radiograph.

Ultrasound

Infantile hepatic haemangiomas have a variable sonographic appearance and can be either hypoechoic or hyperechoic or may display mixed echogenicity with prominent vascular channels. Colour Doppler sonographic evaluation will show increased flow.

CT

There is typical peripheral enhancement with gradual filling-in. Another characteristic finding is a reduction in the aortic calibre (mid-aortic syndrome) distal to the level of the coeliac axis because of the important vascular distribution toward the liver. The same process will cause coeliac trunk and hepatic artery hypertrophy.

MRI

Multifocal haemangiomas are spherical lesions with homogeneous signal intensity on MRI. Large flow voids are usually present. Typical signal characteristics include:

T1: hypointense 3

T2: hyperintense 3

They generally demonstrate uniform enhancement and may demonstrate the same vascular changes as seen on CT.

Treatment and prognosis

The natural history of infantile hepatic haemangiomas in infancy is a rapid, proliferative growth phase in the first six months of life, followed by regression and involution.

If the child remains asymptomatic, no treatment may be needed.

If symptoms of high output cardiac failure occur, the first line of therapy is propranolol. If medical treatment fails, the lesions may be embolised to control any arteriovenous shunting causing cardiac failure.

Differential diagnosis

hepatoblastoma

elevated alpha-fetoprotein

not common in neonates

neuroblastoma metastasis: usually multiple

mesenchymal hamartoma (usually seen as multilocular cystic mass) 7,8

References

Question 455

Aortic stenosis and Colon bleeding

Answer 455

Heyde syndrome refers to a triad of aortic stenosis, acquired type IIA von Willebrand syndrome and recurrent bleeding from gastrointestinal angiodysplasia

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4732965/

The association between chronic gastrointestinal bleeding due to angiodysplasia and calcific aortic stenosis was first described in 1958 by Edward Heyde and has since been termed Heyde syndrome. Not until 1992 did Warkentin and colleagues elucidate the role of acquired coagulopathy (depletion of high-molecular-weight multimers of von Willebrand factor) in the pathogenesis of Heyde syndrome (historical sources listed in Appendix 1, available at www.cmaj.ca/lookup/suppl/doi:10.1503/cmaj.150194/-/DC1). Although there is no consensus definition, many authors affirm that Heyde syndrome refers to a triad of aortic stenosis, acquired type IIA von Willebrand syndrome and recurrent bleeding from gastrointestinal angiodysplasia (Figure 2).1–5

Question 456

subglottic haemangioma

Answer 456

PHACES Syndrome

Question 457

PHACES Syndrome

Answer 457

Cutaneous Hemangioma

PHACE syndrome, also known as cutaneous haemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome, is a phakomatosis that comprises of:

• P: posterior fossa malformations (e.g. Dandy-Walker malformation)
• H: haemangiomas
• A: arterial anomalies
• C: coarctation of the aorta and cardiac anomalies
• E: eye (ocular) anomalies
• When sternal clefting and/or supraumbilical raphe are also present it is termed PHACES syndrome.

Clinical presentation

• Clinical diagnosis of PHACE syndrome requires the presence of a characteristic segmental haemangioma or haemangioma >5 cm on the head (face or scalp) plus 1 major criterion or 2 minor criteria 5.

Major criteria:

• cerebrovascular:
• anomaly of major cerebral arteries
• dysplasia of the large cerebral arteries
• arterial stenosis or occlusion with or without moyamoya collaterals
• absence or moderate-severe hypoplasia of the large cerebral arteries
• aberrant origin or course of the large cerebral arteries
• persistent trigeminal artery
• saccular aneurysms of any cerebral arteries

brain: posterior fossa anomalies

• Dandy-Walker complex
• cerebellar hypoplasia/dysplasia

ocular: posterior segment anomalies

• persistent fetal vasculature
• retinal vascular anomalies
• morning glory disc anomaly
• optic nerve hypoplasia
• peripapillary staphyloma
• coloboma

cardiovascular:

• aortic arch anomaly
• aberrant course or origin of supra-aortic arteries
• ventral or midline: sternal defects or supraumbilical raphe

Minor criteria:

• cerebrovascular: persistent embryonic artery (carotid-vertebrobasilar anastomosis) other than trigeminal artery

brain:

• extra-axial intracranial haemangioma

midline anomaly

• neuronal migration disorder
  ocular: anterior segment anomalies
• sclerocornea
• cataract
• coloboma
• microphthalmia

cardiovascular:

• ventricular septal defect
• right aortic arch

ventral or midline:

• hypopituitarism
• ectopic thyroid

Historic and etymology

• Initially, this syndrome was described as an association of large cutaneous haemangiomas of the head and anomalies of the cerebral vasculature by Pascual-Castroviejo in 1978 7,8. Subsequently, the name PHACE syndrome was coined by Ilona Frieden et al 2.

Question 458

Ropy Appearance

Answer 458

Meconium Aspiration

Meconium aspiration occurs secondary to intrapartum or intrauterine aspiration of meconium, usually in the setting of fetal distress, often in term or post-term infants.

Epidemiology

Up to 10-15% of live births after 34 weeks can present with meconium stained fluid but only 1-5% of neonates develop meconium aspiration. There is no gender predilection.

Clinical presentation

There is commonly a history of meconium stained fluid at birth. Depending on the length of exposure, meconium skin staining may be present.

Neonates typically present with respiratory distress and varying degrees of hypoxia. Wheezing, hypercarbia and cyanosis may develop depending on the severity of the condition.

Pathology

Aspirated meconium can cause small airways obstruction and a chemical pneumonitis.

Radiographic features

Plain radiograph

increased lung volumes

hyperinflated lungs with flattened hemidiaphragms

secondary to distal small airway obstruction and gas trapping

asymmetric patchy pulmonary opacities

due to subsegmental atelectasis

may be ‘rope like’

pleural effusions can be seen

pneumothorax or pneumomediastinum in 20-40% of cases

due to increased alveolar tension from obstructed airways

multifocal consolidation

due to chemical pneumonitis

Treatment and prognosis

Treatment usually involves suction of secretions and intubation and ventilation. Mortality can be as high as 10-20% in those with resulting severe pulmonary parenchymal disease.

Question 460

Post term delivery

Answer 460

Meconium aspiration

Question 461

Fluid in the fissures

Answer 461

TTN

Question 462

History of c-section

Answer 462

TTN

Question 463

Maternal sedation

Answer 463

TTN

Question 464

GRandular opacities and Premature

Answer 464

RDS

Question 465

Granular opacities + term + low lung volume

Answer 465

B-Hemolytic Strep

Question 466

Band like opacities

Answer 466

Chronic lung disease/Bronchopulmonary dysplasia

Bronchopulmonary dysplasia

Dr Milo MacBain◈ and Dr Yuranga Weerakkody◉ et al.

Bronchopulmonary dysplasia (BPD) refers to late pathological lung changes that develop in infants after several weeks on prolonged ventilation.

Terminology

BPD and chronic lung disease of prematurity (CLDP) have often been used interchangeably to describe the condition post-treatment of premature infants for respiratory distress syndrome. However, some suggest that there are different underlying pathogeneses and that CLDP encompasses other conditions besides BPD 12,13.

Pathology

It is the result of a paradoxical combination of hypoxia and oxygen toxicity. There is initial capillary wall damage, interstitial fluid seepage and ensuing pulmonary oedema, which is followed by loss of ciliated epithelium and bronchiolar mucosal necrosis. Areas of both hyperexpansion and atelectasis are seen. This is followed by eosinophilic exudate and squamous metaplasia and may ultimately lead to interstitial fibrosis/fibro-proliferative bronchiolitis.

Radiographic features

Plain radiograph

ill-defined reticular markings with interspersed rounded lucent areas diffusely involving hyperinflated lungs

the lungs may have relatively normal AP diameter on the lateral film

presence of cardiomegaly may indicate the development of pulmonary hypertension

in chronic cases, the lateral film may show a much narrower AP diameter compared with the chest width on the frontal film

CT

mosaic lung parenchymal pattern with areas of low attenuation and focal air trapping on expiratory HRCT (considered the most sensitive finding for predicting severity)

bronchial wall thickening (considered the most frequent finding)

small subpleural triangular/linear opacities

Bronchiectatic changes are usually not considered a feature 4.

Treatment and prognosis

Infants who survive neonatal bronchopulmonary dysplasia often show a slow but continuous improvement in respiratory status. Young adult survivors who have had moderate and severe bronchopulmonary dysplasia may have residual functional and characteristic structural pulmonary abnormalities; of these, the most notable is pulmonary emphysema 7.

Differential diagnosis

General imaging differential considerations include:

• pulmonary interstitial emphysema (has an acute course)
• neonatal pneumonia
• Wilson-Mikity syndrome

Question 467

linear lucencies

Answer 467

Pulmonary interstitial emphysema

Bronchopulmonary dysplasia

Dr Milo MacBain◈ and Dr Yuranga Weerakkody◉ et al.

Bronchopulmonary dysplasia (BPD) refers to late pathological lung changes that develop in infants after several weeks on prolonged ventilation.

Terminology

BPD and chronic lung disease of prematurity (CLDP) have often been used interchangeably to describe the condition post-treatment of premature infants for respiratory distress syndrome. However, some suggest that there are different underlying pathogeneses and that CLDP encompasses other conditions besides BPD 12,13.

Pathology

It is the result of a paradoxical combination of hypoxia and oxygen toxicity. There is initial capillary wall damage, interstitial fluid seepage and ensuing pulmonary oedema, which is followed by loss of ciliated epithelium and bronchiolar mucosal necrosis. Areas of both hyperexpansion and atelectasis are seen. This is followed by eosinophilic exudate and squamous metaplasia and may ultimately lead to interstitial fibrosis/fibro-proliferative bronchiolitis.

Radiographic features

Plain radiograph

ill-defined reticular markings with interspersed rounded lucent areas diffusely involving hyperinflated lungs

the lungs may have relatively normal AP diameter on the lateral film

presence of cardiomegaly may indicate the development of pulmonary hypertension

in chronic cases, the lateral film may show a much narrower AP diameter compared with the chest width on the frontal film

CT

mosaic lung parenchymal pattern with areas of low attenuation and focal air trapping on expiratory HRCT (considered the most sensitive finding for predicting severity)

bronchial wall thickening (considered the most frequent finding)

small subpleural triangular/linear opacities

Bronchiectatic changes are usually not considered a feature 4.

Treatment and prognosis

Infants who survive neonatal bronchopulmonary dysplasia often show a slow but continuous improvement in respiratory status. Young adult survivors who have had moderate and severe bronchopulmonary dysplasia may have residual functional and characteristic structural pulmonary abnormalities; of these, the most notable is pulmonary emphysema 7.

Differential diagnosis

General imaging differential considerations include:

pulmonary interstitial emphysema (has an acute course)

neonatal pneumonia

Wilson-Mikity syndrome

Question 468

Granular opacities + Term and high lung volume

Answer 468

Pneumonia

Question 469

lung cysts and nodules

Answer 469

LCH or papillomatosis

Case 1 LCH

Pulmonary Langerhans cell histiocytosis

Dr Joachim Feger◉ and Dr Vinod G Maller et al.

Pulmonary Langerhans cell histiocytosis (PLCH) may be seen as part of widespread involvement in patients with disseminated Langerhans cell histiocytosis or more frequently as a distinct entity in young adult smokers. This article focuses on the latter.

Epidemiology

Pulmonary Langerhans cell histiocytosis is usually identified in young adults (20-40 years of age). A history of current or previous cigarette smoking is identified in up to 95% of cases 1,4. It is a rare disorder with no well-established gender predilection, which appears to be more common in Caucasian populations 4.

Associations

• Haematopoietic neoplasms:
• acute lymphoblastic leukaemia (ALL) 11,12
• acute myeloid leukaemia (AML) 10

Clinical presentation

Presentation is usually with dyspnoea or non-productive cough. Other symptoms include constitutional symptoms (fatigue and weight loss), pleuritic chest pain, or spontaneous pneumothorax 1,4. Up to a quarter of patients are asymptomatic.

Pathology

Langerhans cells proliferate in the bronchiolar and bronchial epithelium, forming granulomas. It is postulated that as these cellular granulomas evolve, peripheral fibrosis forms resulting in traction on the central bronchiole which becomes cyst-like 3. This explains the presumed evolution from a nodule, through cavitating nodule and thick-walled cysts, to the ‘stable’ thin-walled cysts 3,4. An immune-mediated mechanism has been postulated, although an inciting agent has not been isolated 4. This proliferation is accompanied by inflammation and granuloma formation. Electron microscopy may reveal characteristic Birbeck granules 1,2.

More recent evidence suggests that pulmonary Langerhans cell histiocytosis represents a myeloid neoplasm with inflammatory properties 9.

Radiographic features

• Pulmonary Langerhans cell histiocytosis has variable appearance depending on the stage of the disease, ranging from small peribronchiolar nodular opacities to multiple irregularly-shaped cysts. There is a mid and upper zone predilection 1,3,4.

Plain radiograph

• The earliest change is a diffuse bilateral symmetrical reticulonodular pattern with a predilection for the mid and upper zones. The ill-defined nodules range from 1-10 mm in size. Later, cyst formation may be seen or may mimic a honeycomb appearance due to a summation of air-filled cysts. Cysts can be identified in only 1-15% of cases 1, and range from 1-3 cm in diameter. There is a preservation of lung volumes or even hyperinflation 1,3,4. Reduced lung volumes are uncommon and only seen in end-stage fibrotic cases 4. Lymph node enlargement visible on chest x-rays is rare 4.

CT

• As is usually the case, CT and especially HRCT is superior to plain chest radiography in identifying both the reticulonodular opacities and cysts 1,3,4. Distribution is the key in differentiating pulmonary Langerhans cell histiocytosis from other cystic lung diseases with a predilection for the mid and upper zones and regional sparing of the costophrenic recesses, anterior right middle lobe and lingula left upper lobe 1,3,4.
• nodules
  
  • more pronounced early in the disease
  • may range in number from a few to innumerable
  • 1-10 mm in diameter (typically 1-5 mm 4)
  • centrilobular distribution - may also be peribronchial or peribronchiolar
  • usually have irregular margins
  • may be cavitary nodules with thick walls, later becoming cysts
  • surrounding lung parenchyma appears normal
• cysts
  
  • more pronounced later in the disease
  • usually less than 10 mm in diameter
  • may measure up to 2-3 centimetres in size
  • the extreme bases may be preserved
  • usually thin-walled, but on occasion may be up to a few millimetres thick
  • confluence of 2 or more cysts results in bizarre shapes
    
    • bilobed
    • cloverleaf
    • branching
    • internal septations
• Other common findings include 1,3:
  
  • ground-glass and/or reticular opacities
  • DIP-like change 1
  • mosaic attenuation
  • septal line thickening
  • emphysema
• In late disease, other findings include:
  
  • coalescent cysts
  • fibrosis
  • honeycombing

The appearance of new nodules later in the disease (when cystic change is established) indicates disease progression but is a rare finding 3.

Treatment and prognosis

• Overall prognosis is generally good with over 50% of patients demonstrating spontaneous resolution or stabilisation even without treatment 3. This is especially the case in patients who stop smoking.
• In a minority of patients (~20%) and more frequently in those who continue to smoke, the disease is progressive with deterioration in respiratory function and eventual end-stage pulmonary fibrosis 3.
• Treatment may not be required once smoking has ceased. Corticosteroids are frequently used and appear beneficial. In patients with rapidly progressive disease, no proven therapy has been found. In some selected patients lung transplantation may be an option, provided smoking has ceased. Recurrence in the transplanted lung has been described 4.

Complications

• cyst rupture
• spontaneous pneumothorax: may be the first presentation
• pneumomediastinum
• interstitial fibrosis
• pulmonary arterial hypertension and cor pulmonale
• end-stage pulmonary fibrosis and respiratory failure

Differential diagnosis

• Differential depends on whether the nodular or cystic change is the dominant feature.
• Early in the disease, when nodules are the dominant feature, consider:
• granulomatous disease
• granulomatosis with polyangiitis
• sarcoidosis
• metastases
• miliary tuberculosis
• See differential of multiple pulmonary nodules and differential of miliary opacities for more comprehensive lists.
• Later in the disease, when cysts are prominent, consider:
• lymphangiomyomatosis (LAM)
• diffuse distribution
• regular shaped and sized cysts
• cystic bronchiectasis from ABPA
• central distribution
• mucous plugging
• centrilobular emphysema
• lack of visible cyst wall 1-3
• Pneumocystis jiroveci pneumonia
• idiopathic pulmonary fibrosis
• basal and subpleural distribution
• reduced lung volumes
• lymphocytic interstitial pneumonitis (LIP)
• smooth-walled simple cysts
• associated with autoimmune disease

Papilomatosis Case 2 Key messages

Extra laryngeal spread in patients with recurrent respiratory papillomatosis is rare.

The radiographic features of respiratory papillomatosis are solid or cystic nodules predominantly in the lower lobes, tracheal wall irregularity due to scars and papillomas and bronchiectasis from obstruction and secondary infection.

Clinicians should suspect malignant transformation when growth of a pulmonary nodule or mass is detected by serial x-ray or CT.

Question 470

Lower lobe bronchiectasis

Answer 470

primary ciliary dyskinesia

Question 473

Pulmonary hypoplasia

Answer 473

Diaphragmatic hernia

Question 476

Upper lobe bronchiectasis

Answer 476

CF

Question 477

Posterior mediastinal mass under 2

Answer 477

Neuroblastoma

Question 478

No air in the stomach

Answer 478

Oesophageal atresia

Question 479

Excessive air in the stomach

Answer 479

H type TE fistula

Question 480

Anterior oesophageal Impression

Answer 480

Pulmonary sling

Question 481

Pulmonary sling

Answer 481

tracheal stenosis

Question 482

Single bubble

Answer 482

Gastric (antral or pyloric) atresia

Question 483

Double bubble

Answer 483

Duodenal atresia

Question 484

Duodenal atresia

Answer 484

Downs syndrome

Question 485

single bubble with distal gas

Answer 485

Maybe mid gut volvulus

Question 486

Nonbillious vomiting

Answer 486

Pyloric stenosis

Question 487

Paradoxical aciduria

Answer 487

Pyloric stenosis

Question 488

bilious vomiting in an infant

Answer 488

mid gut volvulus

Question 489

Reveres SMA and SMV

Answer 489

Malrotation

Question 490

Absent gall bladder

Answer 490

biliary atresia

Question 491

Triangle cord sign

Answer 491

biliary atresia

Question 492

Saw tooth colon

Answer 492

Hirschprungs

Barium enema demonstrates a reduced calibre rectum and sigmoid (the rectum is smaller than the descending colon) with a saw-tooth appearance to the wall. A transition point is seen at the junction between sigmoid and descending colon.

Question 493

Asplenia

Answer 493

Cyanotic heart disease

Question 494

Infarcted spleen

Answer 494

Sickle cell

Question 495

Gall stones

Answer 495

Sickle Cell

Question 496

Short microcolon

Answer 496

Colonic atresia

Question 497

Long microcolon

Answer 497

meconium ileus or distal ileal atresia

Question 499

Calcified mass in the mid abdomen of a newborn

Answer 499

meconium peritonitis

Question 500

Meconium ileus equivalent

Answer 500

distal intestinal obstruction syndrome (CF)

Question 501

Abrupt caliber change of the aorta below the celiac axis

Answer 501

hepatic hemangioendothelioma

Infantile hepatic haemangioma

Dr Ammar Haouimi◉ and Radswiki◉ et al.

Infantile hepatic haemangiomas (IHH) are liver lesions composed of large endothelial-lined vascular channels seen in fetuses and neonates. Not to be confused with hepatic epithelioid haemangioendothelioma, which occurs in older patients.

Terminology

These benign tumours were previously referred to as hepatic infantile haemangioendotheliomas, but as they are similar to haemangiomas elsewhere in the body, they have been reclassified as haemangiomas by the International Society for the Study of Vascular Anomalies (ISSVA).

Epidemiology

Infantile hepatic haemangiomas occur in fetuses and neonates and have been detected in utero as early as at 16 weeks of gestation. It is the most frequent liver mass in infants (<6 months).

Clinical presentation

Infantile hepatic haemangiomas have substantial arteriovenous shunting which may lead to fatal cardiovascular compromise and hydrops fetalis. It may present as hepatomegaly since the entire liver is involved in most cases.

In addition, fetuses may also develop haemolytic anaemia, thrombocytopenia, and consumptive coagulopathy (Kasabach-Merritt sequence).

If these tumours are not detected prenatally, neonates may present with unexplained congestive heart failure.

Pathology

Infantile hepatic haemangiomas are histologically similar to haemangiomas (strawberry naevus) but distinct from both adult type cavernous haemangiomas which are venous malformations and angiosarcomas.

Markers

In 3% of cases, there is elevated serum alpha-fetoprotein 6.

Associations

hypothyroidism: probably due to high levels of type 3-iodothyronine deiodinase activity produced by haemangiomas 3

haemangiomas elsewhere in 10% of cases

Radiographic features

Plain radiograph

Non-specific features such as hepatomegaly and liver calcifications, present in ~15% of the cases, may be seen. Indirect signs of congestive heart failure may be present on a chest radiograph.

Ultrasound

Infantile hepatic haemangiomas have a variable sonographic appearance and can be either hypoechoic or hyperechoic or may display mixed echogenicity with prominent vascular channels. Colour Doppler sonographic evaluation will show increased flow.

CT

There is typical peripheral enhancement with gradual filling-in. Another characteristic finding is a reduction in the aortic calibre (mid-aortic syndrome) distal to the level of the coeliac axis because of the important vascular distribution toward the liver. The same process will cause coeliac trunk and hepatic artery hypertrophy.

MRI

Multifocal haemangiomas are spherical lesions with homogeneous signal intensity on MRI. Large flow voids are usually present. Typical signal characteristics include:

T1: hypointense 3

T2: hyperintense 3

They generally demonstrate uniform enhancement and may demonstrate the same vascular changes as seen on CT.

Treatment and prognosis

The natural history of infantile hepatic haemangiomas in infancy is a rapid, proliferative growth phase in the first six months of life, followed by regression and involution.

If the child remains asymptomatic, no treatment may be needed.

If symptoms of high output cardiac failure occur, the first line of therapy is propranolol. If medical treatment fails, the lesions may be embolised to control any arteriovenous shunting causing cardiac failure.

Differential diagnosis

hepatoblastoma

elevated alpha-fetoprotein

not common in neonates

neuroblastoma metastasis: usually multiple

mesenchymal hamartoma (usually seen as multilocular cystic mass) 7,8

References