Crack the core WHen I Say you say... Flashcards
cystic mass in the liver of newborn
hepatoblastoma
elevated AFP with liver mass in newborn
hepatoblastoma
common bile duct > 10 mm
choledochal cyst
lipomatous pseudohypertrophy of pancreas
CF
unilateral renal agenesis
unicornuate uterus
neonatal renal vein thrombosis
maternal diabetes
neonatal renal artery thrombosis
misplaced umbilical artery catheter
hydro on fetal MRI
posterior urethral valve
urachus
bladder adenocarcinoma
nephroblastomatosis with necrosis
Wilms
solid renal tumor of infancy
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
solid renal tumor of childhood
Wilms
midline pelvic mass female
hydrometrocolpos
right-sided varicocele
abdominal pathology
blue dot sign
torsion of testicular appendage
hand or foot pain/swelling in infant
sickle cell with hand foot syndrome
extratesticular scrotal mass
embryonal rhabdomyosarcoma
narrowing of interpedicular distance
achondroplasia
platyspondyly
thanatophoric
absent tonsils after 6 months
immune deficiency
enlarged tonsils well after childhood (age 12-15)
cancer… probably lymphatic
mystery liver abscess in kid
chronic granulomatous disease
narrowed B ring
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
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esophageal concentric rings
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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
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shaggy or plaque-like esophagus
candidiasis
looks like Candida but asymptomatic old lady
glycogen acanthosis
reticular mucosal pattern
Barretts
high stricture with associated hiatal hernia
Barretts
abrupt shoulders
cancer
Killian Dehiscence
Zenker diverticulum
transient fine transverse folds across esophagus
feline esophagus
bird’s beak
achalasia
solitary esophageal ulcer
CMV or AIDS
ulcers at the level of the arch or distal esophagus
medication-induced
breast cancer + bowel hamartomas
Cowdens
\
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.
desmoid tumors + bowel polyps
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.
brain tumors + bowel polyps
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.
enlarged left supraclavicular node
Virchow node (GI cancer)
crosses pylorus
gastric lymphoma
isolated gastric varices
splenic vein thrombus
multiple gastric ulcers
chronic aspirin therapy
multiple duodenal (or jejunal) ulcers
Zollinger-Ellison
pancreatitis after Billroth 2
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”
weight gain years after Roux-en-Y
gastro-gastro fistula
clover leaf sign of duodenum
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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).
sand-like nodules in jejunum
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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)
sand-like nodules in jejunum + CD4 < 100
MAI
ribbon-like bowel adult
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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
ribbon-like jejunum
long standing celiac
Moulage pattern
celiac (moulage = loss of jejunal folds)
fold reversal of jejunum and ileum
celiac
cavitary (low density) lymph nodes
celiac
hide bound or “stack of coins”
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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.
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megaduodenum
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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
duodenal obstruction with recent weight loss
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.
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cone-shaped cecum
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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.
lead pipe
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ulcerative colitis
string sign
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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.
massive circumferential thickening without obstruction
lymphoma
multiple small bowel target signs
melanoma
obstructing old lady hernia
femoral hernia
sac of bowel
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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
scalloped appearance of liver
pseudomyxoma peritonei
HCC without cirrhosis
hepatitis B (or fibrolamellar HCC)
capsular retraction
cholangiocarcinoma
periportal hypoechoic infiltration + AIDS
Kaposi
sparing of the caudate lobe
Budd-Chiari
large T2 bright nodules + Budd-Chiari
hyperplastic nodules
liver high signal in phase low signal out of phase
fatty liver
liver low signal in phase high signal out of phase
hemochromatosis
multifocal intrahepatic and extrahepatic biliary stricture
PSC
multifocal intrahepatic and extrahepatic biliary strictures + papillary stenosis
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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
bile ducts full of stones
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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
gallbladder comet tail artifact
adenomyomatosis
lipomatous pseudohypertrophy of the pancreas
CF
sausage-shaped pancreas
autoimmune pancreatitis
autoimmune pancreatitis
IgG4
IgG4,
- RP fibrosis
- sclerosing cholangitis
- fibrosis mediastinitis
- inflammatory pseudotumour
wide duodenal sweep
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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
grandmother pancreatic cyst
serous cystadenoma
mother pancreatic cyst
mucinous
daughter pancreatic cyst
solid pseudopapillary
bladder stones
neurogenic bladder
pine cone appearance
neurogenic bladder
urethra cancer
squamous cell
urethra cancer - prostatic portion
transitional cell
urethra cancer - in diverticulum
adenocarcinoma
vas deferens calcifications
diabetes
calcifications in fatty renal mass
RCC
protrude into the renal pelvis
multilocular cystic nephroma
no functional renal tissue
multicystic dysplastic kidney
multicystic dysplastic kidney
contralateral renal issues (50%)
emphysematous pyelonephritis
diabetic
xanthogranulomatous pyelonephritis
staghorn stone
papillary necrosis
diabetes
shrunken calcified kidney
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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.
bilateral medulla nephrocalcinosis
medullary sponge kidney
big bright kidney with decreased renal function
HIV
hx of lithotripsy
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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.
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cortical rim sign
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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.
hx renal biopsy
AVF
reversed diastolic flow
renal vein thrombosis
sickle cell trait
medullary RCC
young adult + renal mass + severe HTN
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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
squamous cell bladder cancer
schistosomiasis
entire bladder calcified
schistosomiasis
urachus
adenocarcinoma of bladder
long stricture in urethra
gonococcal
short stricture in urethra
straddle injury
unicornuate uterus
look at kidneys
T-shaped uterus
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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.
marked enlargement of uterus
adenomyosis
adenomyosis
thickening of junctional zone (>12 mm)
Wolffian duct remnant
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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
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theca lutein cysts
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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
theca lutein cysts + pleural effusions
hyperstimulation syndrome (fertility meds)
low level internal echoes
endometrioma
T2 shortening
endometrioma - “shading sign”
fishnet appearance
hemorrhagic cyst
ovarian fibroma + pleural effusion
Meigs syndrome
snow storm uterus
complete mole - 1st trimester
serum B-hCG levels rise in 8-10 weeks following evacuation of molar pregnancy
choriocarcinoma
midline cystic structure near back of bladder of male
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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
lateral cystic structure near back of bladder of male
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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
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isolated orchitis
mumps
onion skin appearance
epidermoid cyst
multiple hypoechoic masses in testicle
lymphoma
cystic elements and macro-calcifications in testicle
mixed germ cell tumor
homogeneous testicular mass and microcalcifications
seminoma
gynecomastia + testicular tumor
Sertoli Leydig
fetal macrosomia
maternal diabetes
one artery adjacent to the bladder
two-vessel cord
painless vaginal bleeding in 3rd trimester
placenta previa
mom doing cocaine
placental abruption
thinning of myometrium with turbulent Doppler
placenta acreta
mass near cord insertion with flow pulsating at fetal heart rate
placental chorioangioma
cystic mass posterior neck - antenatal period
cystic hygroma
pleural effusions and ascites on prenatal US
hydrops
massively enlarged bilateral kidneys
ARPKD
twin peak sign
dichorionic diamniotic
obliteration of Raider’s triangle
aberrant right subclavian
flat waist sign
left lower lobe collapse
terrorist + mediastinal widening
Anthrax
bulging fissure
Klebsiella
dental procedure gone bad now with jaw osteo and pneumonia
Actinomycosis
culture-negative pleural effusion 3 months later with airspace opacity
TB
hot tub
hypersensitivity pneumonitis
halo sign
fungal pneumonia - invasive Aspergillus
reverse halo or atoll sign
COP
finger-in-glove
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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
septic emboli + jugular vein thrombosis
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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.
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Lemierre
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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
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paraneoplastic syndrome with SIADH
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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
paraneoplastic syndrome with Parathyroid hormone
squamous cell CA
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small cell lung CA + proximal weakness
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.
cavity fills with air post pneumonectomy
bronchopleural fistula
malignant bronchial tumor
carcinoid
malignant tracheal tumor
adenoid cystic
AIDS patient with lung nodules pleural effusion and LAD
lymphoma
gallium negative
Kaposi
thallium negative
PCP
macroscopic fat and popcorn calcifications
hamartoma
bizarre-shaped cysts
LCH
lung cysts in a TS patiennt
LAM
panlobular emphysema NOT alpha-1
ritalin lung
honeycombing
UIP
histology was heterogeneous
UIP
ground glass with subpleural sparing
NSIP
UIP lungs + parietal pleural thickening
asbestosis
cavitation in the setting of silicosis
TB
air trapping seen 6 months after lung transplant
chronic rejection/bronchiolitis obliterans syndrome
crazy paving
PAP
hx constipation
lipoid pneumonia (inferring mineral oil use/aspiration)
UIP + air trapping
chronic hypersensitivity pneumonitis
dilated esophagus + ILD
scleroderma (with NSIP)
shortness of breath when sitting up
hepatopulmonary syndrome
episodic hypoglycemia
solitary fibrous tumor of pleura
pulmonary HTN with normal wedge pressure
pulmonary veno-occlusive disease
yellow nails
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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
persistent fluid collection after pleural drain/tube placement
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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.
displaced extrapleural fat
extrapleural hematoma
massive air leak in the setting of trauma
bronchial or tracheal injury
hot on PET - around periphery
pulmonary infarct
multi-lobar collapse
sarcoid
classic bronchial infection
TB
panbronchiolitis
tree-in-bud (not centrilobular or random nodules)
bronchorrhea
mucinous BAC
ALCAPA
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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.
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supravalvular aortic stenosis
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.
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bicuspid aortic valve and coarctation
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
isolated right upper lobe edema
mitral regurgitation
peripheral pulmonary stenosis
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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.
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box-shaped heart
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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
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right arch with mirror branching
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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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hand/thumb defects + ASD
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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
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ostium primum ASD (or endocardial cushion defect)
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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)
right-sided PAPVR
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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]
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calcification in the left atrium wall
rheumatic heart disease
difficult to suppress myocardium
amyloid
blood pool suppression on delayed enhancement
amyloid
septal bounce
constrictive pericarditis
ventricular interdependence
constrictive pericarditis
focal thickening of septum - but not HCM
sarcoid
ballooning of the left ventricular apex
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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
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fat in the wall of a dilated right ventricle
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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
kid with dilated heart and mid-wall enhancement
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
cardiac rhabdomyoma
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
bilateral atrial thrombus
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
diffuse LV subendocardial enhancement not restricted to vascular distribution
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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
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Glenn procedure
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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
- Enlarged right atrium
- GLENN = VEIN TO ARTERY (svc to PA)
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].
pulmonary vein stenosis
ablation for A-fib
multiple cardiac myxomas
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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.
vessel in fissure of ligamentum venosum
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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%
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vessel coursing on pelvic brim
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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.
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ascending aorta calcifications
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syphilis and Takayasu
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tulip bulb aorta
Marfans
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really shitty Marfan’s variant
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.
tortuous vessels
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Loeys-Dietz
renal artery stenosis with HTN in child
NF-1
nasty-looking saccular aneurysm without intimal calcs
mycotic
tree bark intimal calcification
syphilitic (Luetic) aneurysm
painful aneurysm in smoker sparing posterior wall
inflammatory aneurysm
Turkish guy with pulmonary artery aneurysm
Behcets
GI bleed with early opacification of dilated draining vein
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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.
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spider web appearance of hepatic veins on angiogram
Budd-Chiari
non-decompressible varicocele
look in belly for badness
right-sided varicocele
look in belly for badness
swollen left leg
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May Thurner
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popliteal aneurysm
look for AAA (and the other leg)
most dreaded complication of popliteal aneurysm
distal emboli
great saphenous vein on the wrong side of the calf - lateral side
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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
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Asian Vasculitis
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.
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kids with vertigo and aortitis
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
nasal perforation + cavitary lung lesions
Wegeners
diffuse pulmonary hemorrhage
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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
smoker + hand angiogram
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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
construction worker + hand angiogram
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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.)
unilateral tardus parvus in carotid
stenosis of innominate
bilateral tardus parvus in carotids
aortic stenosis
bilateral reversal of flow in carotids
aortic regurg
lack of diastolic flow on carotid US
brain death
IVC > 28 mm
mega cava
mega cava
birds nest filter
hairpin turn during bronchial angiography
anterior medullary (spinal cord) artery
fever WBC and Nausea vomiting after uterine artery embo
post embolization syndrome (obviously could also be infection)
most medial vessel in the leg
posterior tibial artery
source of 85% of upper GI bleeds
left gastric artery
source of bleeding from duodenal ulcer
GDA
pulmonary AVM
HHT
most feared complication of bronchial artery embolization
spinal cord infarct
high risk of bleeding for liver transplant
transjugular approach
most feared complication of brachial arterial access
compartment syndrome
cold painful fingers during dialysis
steal syndrome
ulcer on medial ankle
venous stasis
ulcer on dorsum of foot
ischemia or infected ulcer
ulcer on plantar surface of foot
neutropenic ulcer
hot clumps of signal in lungs on Liver Spleen sulfur colloid
too much Al in the Tc
HOT spleen
WBC scan or octreotide (sulfur colloid will be a warm spleen)
bone scan with hot skull sutures
renal osteodystrophy
bone scan with focal breast uptake
breast CA
bone scan with renal cortex activity
hemochromatosis
bone scan with liver activity
too much Al amyloid hepatoma or liver necrosis
bone scan with sternal lesion
breast CA
bone scan with diffusely decreased bone uptake
free Tc or bisphosphonate rx
tramline along periosteum of long bones
lung CA
super hot mandible in adult
fibrous dysplasia
super hot mandible in child
Caffeys
periarticular uptake on delayed scan
RSD
focal uptake along lesser trochanter
prosthesis loosening
tracer in brain on VQ study
shunt
tracer over the liver on ventilation with Xenon
fatty liver
gallium negative and thallium postiive
Kaposi
high T3 and high T4, low TSH - low thyroid uptake
Quervains (granulomatous thyroiditis)
persistent tracer in the lateral ventricles > 24 hours
NPH
renal uptake on sulfur colloid
CHF
renal transplant uptake on sulfur colloid
rejection
filtered renal agent
DTPA (or GH)
secreted renal agent
MAG-3
PET with increased muscle uptake
insulin
diffuse FDG uptake in thyroid on PET
Hashimoto
I see the skeleton on MIBG
diffuse neuroblastoma bone mets
cardiac tissue taking up FDG more intensely than normal myocardium
hibernating myocardium
made with a generator
Tc99 and Rubidium
cervical kyphosis
NF-1
lateral thoracic meningocele
NF-1
bilateral optic nerve gliomas
NF-1
bilateral vestibular schwannomas
NF-2
retinal hamartoma
TS
retinal angioma
VHL
brain tumor with restricted diffusion
lymphoma
brain tumor crossing midline
GBM or lymphoma
cyst and nodule in child
pilocytic astrocytoma
cyst and nodule in adult
hemangioblastoma
multiple hemangioblastoma
VHL
swiss cheese tumor in ventricle
central neurocytoma
CN3 palsy
posterior communicating artery aneurysm
CN6 palsy
increased ICP
ventricles out of size to atrophy
NPH
hemorrhagic putamen
methanol
decreased FDG uptake in lateral occipital cortex
Lewy Body dementia
TORCH with periventricular calcification
CMV
TORCH with hydrocephalus
toxoplasmosis
TORCH with hemorrhagic infarction
HSV
Neonatal infection with frontal lobe atrophy
HIV
rapidly progressing dementia + rapidly progressing atrophy
CJD
expanding the cortex
oligodendroglioma
tumor acquired after trauma (LP)
epidermoid
palate separated from maxilla/floating palate
LeFort 1
maxilla separated from the face or “pyramidal”
LeFort 2
face separated from the cranium
LeFort 3
airless expanded sinus
mucocele
DVA
cavernous malformation nearby
single vascular lesion in the pons
capillary telangiectasia
elevated NAA peak
Canavans
tigroid appearance
metachromatic leukodystrophy
endolymphatic sac tumor
VHL
T1 bright in the petrous apex
cholesterol granuloma
restricted diffusion in the petrous apex
cholesteatoma
lateral rectus palsy + otomastoiditis
Gradenigo synddrome
cochlear and semicircular canal enhancement
Labyrinthitis
conductive hearing loss in adult
otosclerosis/otospongiosis
noise-induced vertigo
superior semicircular canal dehiscence (Tullio phenomenon)
widening of the maxillary ostium
antrochoanal polyp
inverting papilloma
squamous cell CA (10%)
adenoid cystic
perineural spread
left-sided vocal cord paralysis
look in AP window
bilateral coloboma
CHARGE syndrome
retinal detachment + small eye
PHPV
bilateral small eye
retinopathy of prematurity
calcification in the globe of a child
retinoblastoma
fluid-fluid levels in orbit
lymphangioma
orbital lesion worse with Valsalva
varix
pulsatile exophthalmos
NF-1 and CC fistula
sphenoid wing dysplasia
NF-1
scimitar sacrum
Currarino triad
bilateral symmetrically increased T2 signal in dorsal columns
B12 (or HIV)
Owl eye appearance of spinal cord
spinal cord infarct
enhancement of nerve roots of cauda equina
Guillain Barre
subligamentous spread of infection
TB
posterior elbow dislocation
capitellum fracture
chondroblastoma in adult
clear cell chondrosarcoma
malignant epiphyseal lesion
clear cell chondrosarcoma
permeative lesion in diaphysis of child
Ewings
T2 bright lesion in sacrum
chordoma
lytic T2 dark lesion
fibrosarcoma
sarcomatous transformation of an infarct
MFH
epiphyseal lesion that is NOT T2 bright
chondroblastoma
short 4th metacarpal
pseudopseudohypoparathyroidism and Turners
band-like acro-osteolysis
Hajdu-Cheney
fat-containing tumor in the retroperitoneum
liposarcoma
sarcoma in the foot
synovial sarcoma
avulsion of the lesser trochanter
pathologic fracture
cross over sign
pincer type FAI
Segond fracture
ACL tear
reverse Segond fracture
PCL tear
arcuate sign
fibular head avulsion or PCL tear
deep intercondylar notch
ACL tear
bilateral patellar tendon ruptures
chronic steroids
wide ankle mortise
show me proximal fibula (Maisonneuve)
bilateral calcaneal fractures
show me spinal compression fracture (“lover’s leap”)
dancer with lateral foot pain
avulsion of 5th MT
old lady with sudden knee pain with standing
SONK
Looser’s zones
osteomalacia or rickets (vitamin D)
unilateral RA with preserved joint spaces
RSD
T2 bright tumor in finger
glomus
blooming in tumor in finger
giant cell tumor of tendon sheath (PVNS)
atrophy of teres minor
quadrilateral space syndrome
subluxation of biceps tendon
subscapularis tear
too many bow ties
discoid meniscus
celery stalk ACL - T2
mucoid degeneration
drumstick ACL - T1
mucoid degeneration
acute flat foot
posterior tibial tendon tear
boomerang-shaped peroneus brevis
tear or split tear
meniscoid mass in lateral gutter of ankle
anterolateral impingement syndrome
scar between 3rd and 4th metetarsals
Morton neuroma
osteomyelitis in spine
IV drug user
psoas muscle abscess
TB
rice bodies in joint
TB - sloughed synovium
calcification along periphery
myositis ossificans
calcifications more dense in the center
osteosarcoma - reverse zoning
permeative lesion in the diaphysis of child
Ewings
long lesion in a long bone
fibrous dysplasia
large amount of edema for size of lesion
osteoid osteoma
cystic bone lesion that is NOT T2 bright
chondroblastoma
lesion in finger of a kid
periosteal chondroma
looks like NOF in anterior tibia with anterior bowing
osteofibrous dysplasia
RA + pneumoconiosis
Caplan syndrome
RA + big spleen + neutropenia
Felty syndrome
epiphyseal overgrowth
JRA (or hemophilia)
reducible deformity of joints in hand
lupus
destructive mass in bone of a leukemia patient
chloroma
shrinking breast
ILC
thick Coopers ligaments
edema (CHF)
thick fuzzy Coopers ligaments - with normal skin
blur
dashes but not dots
secretory calcs
cigar-shaped calcs
secretory calcs
popcorn calcs
degenerated fibroadenoma
breast within a breast
hamartoma
fat-fluid level
galactocele
rapidly growing fibroadenoma
Phyllodes
swollen red breast not responding to antibiotics
inflammatory breast CA
lines radiating to single point
architectural distortion
architectural distortion + calcs
IDC + DCIS
architectural distortion without calcs
ILC
stepladder sign
intracapsular rupture on US
linguine sign
intracapsular rupture on MRI
residual calcs in lumpectomy bed
local recurrence
no calcs in the core
milk of calcium (requires polarized light to be seen)
subglottic haemangioma
PHACES Syndrome
PHACES Syndrome
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.
Ropy Appearance
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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.
Post term delivery
Meconium aspiration
Fluid in the fissures
TTN
History of c-section
TTN
Maternal sedation
TTN
GRandular opacities and Premature
RDS
Granular opacities + term + low lung volume
B-Hemolytic Strep
Band like opacities
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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
linear lucencies
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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
Granular opacities + Term and high lung volume
Pneumonia
lung cysts and nodules
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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.
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Lower lobe bronchiectasis
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primary ciliary dyskinesia
Pulmonary hypoplasia
Diaphragmatic hernia
Upper lobe bronchiectasis
CF
Posterior mediastinal mass under 2
Neuroblastoma
No air in the stomach
Oesophageal atresia
Excessive air in the stomach
H type TE fistula
Anterior oesophageal Impression
Pulmonary sling
Pulmonary sling
tracheal stenosis
Single bubble
Gastric (antral or pyloric) atresia
Double bubble
Duodenal atresia
Duodenal atresia
Downs syndrome
single bubble with distal gas
Maybe mid gut volvulus
Nonbillious vomiting
Pyloric stenosis
Paradoxical aciduria
Pyloric stenosis
bilious vomiting in an infant
mid gut volvulus
Reveres SMA and SMV
Malrotation
Absent gall bladder
biliary atresia
Triangle cord sign
biliary atresia
Saw tooth colon
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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.
Asplenia
Cyanotic heart disease
Infarcted spleen
Sickle cell
Gall stones
Sickle Cell
Short microcolon
Colonic atresia
Long microcolon
meconium ileus or distal ileal atresia
Calcified mass in the mid abdomen of a newborn
meconium peritonitis
Meconium ileus equivalent
distal intestinal obstruction syndrome (CF)
Abrupt caliber change of the aorta below the celiac axis
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
Aortic stenosis and Colon bleeding
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
subglottic haemangioma
PHACES Syndrome
PHACES Syndrome
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.
Ropy Appearance
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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.
Post term delivery
Meconium aspiration
Fluid in the fissures
TTN
History of c-section
TTN
Maternal sedation
TTN
GRandular opacities and Premature
RDS
Granular opacities + term + low lung volume
B-Hemolytic Strep
Band like opacities

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
linear lucencies

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
Granular opacities + Term and high lung volume
Pneumonia
lung cysts and nodules
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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.
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Lower lobe bronchiectasis
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primary ciliary dyskinesia
Pulmonary hypoplasia
Diaphragmatic hernia
Upper lobe bronchiectasis
CF
Posterior mediastinal mass under 2
Neuroblastoma
No air in the stomach
Oesophageal atresia
Excessive air in the stomach
H type TE fistula
Anterior oesophageal Impression
Pulmonary sling
Pulmonary sling
tracheal stenosis
Single bubble
Gastric (antral or pyloric) atresia
Double bubble
Duodenal atresia
Duodenal atresia
Downs syndrome
single bubble with distal gas
Maybe mid gut volvulus
Nonbillious vomiting
Pyloric stenosis
Paradoxical aciduria
Pyloric stenosis
bilious vomiting in an infant
mid gut volvulus
Reveres SMA and SMV
Malrotation
Absent gall bladder
biliary atresia
Triangle cord sign
biliary atresia
Saw tooth colon
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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.
Asplenia
Cyanotic heart disease
Infarcted spleen
Sickle cell
Gall stones
Sickle Cell
Short microcolon
Colonic atresia
Long microcolon
meconium ileus or distal ileal atresia
Calcified mass in the mid abdomen of a newborn
meconium peritonitis
Meconium ileus equivalent
distal intestinal obstruction syndrome (CF)
Abrupt caliber change of the aorta below the celiac axis
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