Syndromes Flashcards
Opitz G/BBB Syndrome
- Occular hypertelorism.
- Defects of the larynx, trachera and oesophagus. Laryngeal cleft.
- Hypospadius, crypto-orchidism, bifid scrotum.
- Mild intellectual disability, ASD.
- Cleft lip/palate.
- Imperfoate anus,
- absent corpus callosum.
- Prominent forehead, widows peak hair line, flat nasal bridge, thin upper lip,
- low set ears.
CHARGE Syndrome
- Coanal artresia
- Heart (TOF, PDA, VSD, ASD, Right aortic arch)
- Atresia Choanae
- Retarded growth (CNS abnormalities)
- Genitourinary/hypogonadism
- Ears
DiGeorge Syndrome
- CATCH22
- Microdeletion on Chromosome 22
- Cardiac
- ‘Abnormal face’ low set east, wide set eyes
- Thymic hypoplasia
- Cleft palate
- Hypocalcaemia: absence or underdevelopment parathyroid
22q11.2 deletion syndrome
Dr Francis Deng◉ and Dr Gagandeep Singh et al.
22q11.2 deletion syndrome, also known as the DiGeorge syndrome or velocardiofacial syndrome, is a syndrome where a small portion of the chromosome 22 is lost and results in a variable but a recognisable pattern of physical and behavioral features.
Epidemiology
The estimated incidence is at ~ 1 in 4000-6000 live pregnancies 4,10.
Clinical presentation
CATCH 22 is the mnemonic to remember the chromosome and all the abnormalities.
cleft lip +/- palate
congenital heart disease (particularly conotruncal anomalies): often a major part of this syndrome
tetralogy of Fallot
interrupted aortic arch
truncus arteriosus
characteristic facies
elongated face
short philtrum
facial asymmetry
prominent nose
hypernasal speech
learning disabilities
decreased immunity
malformation of third and fourth pharyngeal pouches that result in the defective development of the parathyroid and thymus which can, in turn, lead to
hypoparathyroidism
hypocalcemia
Pathology
Genetics
There is a near-universal association with a deletion within chromosome 22q11.2. The majority of cases have de novo mutations. 22q11 deletions are associated with some types of conotruncal cardiac defects as well as conotruncal anomaly face syndrome 5.
Associations
Mondini malformation
choanal atresia
Radiographic features
Temporal bone malformations are common: 7:
lateral semicircular canal dysplasia with small or absent bony island, forming a wide or single cavity with the vestibule (42% and 26%, respectively)
cochlear incomplete partition type II (32%)
middle ear ossicles
dense stapes superstructure (39%)
malleus, incus, or other stapes abnormalities (7%)
carotid canal dehiscence (10%)
Brain and cerebrovascular malformations are common 6,8:
persistent cavum septi pellucidi and/or cavum vergae (19-33%)
aberrant cortical veins (25%)
polymicrogyria or cortical dysplasia (17%)
white matter hyperintensities (10%)
hypoplastic internal carotid artery (8%)
brain volume loss, most pronounced in the cerebellum (see hypoplastic cerebellum) 9
Cardovascular, particularly conotruncal, defects are usually the first imaging abnormality noted in these patients 10:
cardiac anomalies
tetralogy of Fallot and variants (35%)
interrupted aortic arch (type B) (19%)
truncus arteriosus (9%)
ventricular septal defect (16%)
atrial septal defect (2%)
transposition of the great arteries (2%)
vascular anomalies
right aortic arch (35%)
vascular ring (5%)
aberrant origin of subclavian artery (16%)
mirror image brachiocephalic vessel branching (12%)
left superior vena cava (9%)
History and etymology
First described in 1968 by Angelo DiGeorge (1921-2009), an American physician.
https://radiopaedia.org/articles/22q112-deletion-syndrome-1
Apert Syndrome
- AKA Type 1 acrocephalosyndactyly
- The constellation of findings is consistent with Apert syndrome (type I acrocephalosyndactyly). Apert syndrome is an autosomal dominant genetic disorder caused by a mutation in the FGFR2 gene encoding the fibroblast growth factor receptor, which is involved in signaling immature fibroblasts into bone cells. It is characterized by craniosynostosis (premature fusion of calvarial sutures) and syndactyly. Additional imaging features include midface anomalies (including shallow orbits and choanal stenosis), cervical spine fusion (seen in 71% of cases and most commonly involving the fifth and sixth vertebrae), skull-base hypoplasia, and central nervous system (CNS) anomalies (including gyral abnormalities, hypoplastic white matter, callosal agenesis, enlarged ventricles, and heterotopic gray matter).
A 12-year-old patient presents with hyperglycemia, neutropenia, and bone dysplasia.
Shwachman-Diamond disease is the second most common reason behind fatty atrophy of the pancreas in children, the first reason being cystic fibrosis. The disorder is characterized by pancreatic exocrine insufficiency, fatty atrophy of the pancreas, neutropenia, and bone dysplasia.
Von Hippel-Lindau Disease
- Characterised by the development of numerous benight and malignant tumours in different organs
- Due to mutation in the VHL tumour suppressor gene on chromosome 3.
- 1:35000-50000
- Usual dx iwhti ntheir first tumour in early adult hood (mean age 26)
- Abdominopelvic
- renal
- RCC, usually clear cell type and frequently bilateral
- 70% life time risk
- RCCs present at an earlier age (mean 39 years) in pt with VHL
- Renal cysts
- can occur in 75% of patients
- Often tned to be bilateral and multiple
- Can be simple, complex or cystic RCC
- Renal angiomyolipomas
- Adrenal
- Phaeo (25-30% of patients)
- Extra- adrenal phaeochromocytoma/paraganglioma (15%)
- Pancres
- Pancreatic cysts (40%)
- pNET (12.5%)
- Usually non-functional
- frequently multiple
- Pancreatic serous cystadenoma
- pancreatic adenocearcinoma
- Liver
- cysts
- Urogenital
- epididymal cysts
- Papillary cystademon of the epididymis (35%)
- broad ligament cystadenomas
- CNS
- Haemangioblastomas: occure in 70% patients
- Cerebellar
- Spinal cord
- brainstem
- Choroid plexus papilloma
- Haemangioblastomas: occure in 70% patients
- H&N
- Rentinal haem
- Adrenal
- renal
13 yo male with short Stature and webbed neck
Noonan syndrome
Noonan syndrome
Assoc Prof Frank Gaillard◉◈ and Dr Yuranga Weerakkody◉ et al.
Noonan syndrome (NS) is a genetically and phenotypically heterogeneous non-aneuploidic congenital RASopathy. Affected individuals can bear some clinical features similar to that of Turner syndrome.
Epidemiology
The estimated incidence is at ~1 in 1000-2500 10. As individuals have normal number of chromosomes, both males and females can be affected.
Clinical presentation
An immense number of clinical features have been described which can be present at varying degrees. These include:
craniofacial
telecanthus, hypertelorism
low-set ears, rotated ears +/- thickened helix
epicanthus
facial asymmetry
intellectual disability
microgenia
low neck hairline
cervicothoracic
pterigium colli: webbed neck
winged scapulae
pectus excavatum
pectus carinatum
cardiopulmonary
pulmonary stenosis (with dysplastic pulmonary valve): most common cardiac anomaly 3
hypertrophic cardiomyopathy 3,4: thought to affect ~20% of individuals 3
patent ductus arteriosus (PDA)
vascularcongenital lymphovascular abnormalities
cystic hygroma
lymphedema 5
lymphangiectasia(e) 2
generalized musculoskeletal
short stature
hypotonia
delayed sternal ossification 7
renal anomalies
dilated renal pelvices 6,9
Pathology
Genetics
The inheritance is autosomal dominant although a significant proportion of cases are sporadic 8. Many genes have been implicated, the most common being the PTPN11 gene which encodes for SHP2, which results in an inability to inactivate SHP2 causing increased signaling of the Ras/MAPK pathway. However. other genes that may be less commonly implicated including SOS1, KRAS, RAF1, NRAS, and SHOC2 10. Because of its effect in amplifying the Ras/MAPK pathway, it is considered to be a RASopathy 10.
Radiographic features
Antenatal ultrasound
Early 1st trimester ultrasound may show nuchal edema or a cystic hygroma similar to that of Turner syndrome. With subsequent scanning, some of the above individual clinical features may be present sonographically.
History and etymology
It is named after Jacqueline A Noonan (1928-fl 2019), an American pediatric cardiologist 11.
Turners Syndrome
Effects both males and females
T or F
false
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 amenorrhea and accounts for approximately one-third of such cases.
Pathology
Genetics
Turner syndrome is classically characterized 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 dependent 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
what syndrome is this.
What are the signs
incidence
risk factors
ddx x 1
Edwards syndrome
- 2nd most common trisomy
- 1:3000
- Increased incidence with increased maternal age
- Of the three trisomies, has the highest rate of major morphological abnormality
- CHD 90-95% (ASD, VSD, PDA)
- Choroid plexus cysts 40%
- Neural tube defects 20%
- IUGR early 60-90%
- single umbilical artery
- rocker bottom feet
- Cystic Hygroma 20%
- Horse shoe kidney in 20%
- Low MSAFP, estradiol, Bhcg
- clenched hands with an overlap of 2nd and 3rd digits: 80%
- bowel containing omphalocele
- Differential diagnosis
Pena-Shokeir syndrome (pseudotrisomy 18):
Dr Daniel J Bell◉ and Assoc Prof Frank Gaillard◉◈ et al.
Edwards syndrome, also known as trisomy 18, along with Down syndrome (trisomy 21) and Patau syndrome (trisomy 13), make up the only three autosomal trisomies to be compatible with extrauterine life in non-mosaic forms, albeit in the case of Edward syndrome only for a week or so.
Epidemiology
After Down syndrome, it is the second most common autosomal trisomy and the overall incidence is estimated to be at ~1:3000-8000. There is an increase in incidence with increasing maternal age.
Clinical presentation
Trisomy 18 fetuses can have multiple anomalies in multiple systems. Over 130 features have been reported. Out of the three main trisomies, this trisomy has the highest incidence of major structural anomalies. Features include:
congenital heart disease: 90-95%
atrial septal defect (ASD)
ventricular septal defect (VSD)
patent ductus arteriosus (PDA)
dextrocardia
central nervous system or spinal abnormalities: 70%
choroid plexus cysts (especially if cysts are large and bilateral 6): found in 25-43% with trisomy 18
agenesis of the corpus callosum: <10%
Dandy-Walker continuum
mega cisterna magna 6
intellectual disability
neural tube defects: ~20% 7
myelomeningocele
spina bifida
intrauterine growth restriction (IUGR): 60-90% (tends to occur from early in gestation)
facial/calvarial abnormalities
micrognathia
dolichocephaly: strawberry skull: as a result of frontal lobe hypoplasia
low set ears
hypertelorism
cleft lip +/- palate
cystic hygroma: ~20%
skeletal abnormalities hand anomalies
clenched hands with an overlap of 2nd and 3rd digits: 80%
radial ray anomalies
absent thumb
feet anomalies
rocker bottom feet: a typical feature
clubfeet
prominent occiput
short neck
11 pairs of ribs 10
umbilical cord
single umbilical artery: 80%
umbilical cord cysts
umbilical cord pseudocysts
gastrointestinal: thoracic anomalies
bowel containing omphalocele: 20-25%
congenital diaphragmatic hernia: ~10%
renal anomalies
antenatal hydronephrosis
urethral duplication
horseshoe kidney: 20% 3
Pathology
Markers
The following serological markers (often termed a triple screen) are generally lower than expected for that of pregnancy:
MSAFP: maternal serum alpha fetoprotein
estriol
beta human chorionic gonadotropin (bHCG)
Treatment and prognosis
The syndrome carries an extremely poor prognosis with a mean infant survival of 48 days 4. The risk of recurrence for a future pregnancy is ~1% greater than that adjusted for maternal age 7.
History and etymology
The syndrome was first described by John Hilton Edwards (1928–2007), a British medical geneticist 8. Historically it was also called E-trisomy or trisomy E 9,10.
Differential diagnosis
Pena-Shokeir syndrome (pseudotrisomy 18): an autosomal recessive condition that may share some overlap in its clinical features with trisomy 18
Radiologic Findings
The frontal chest radiograph (Fig. 46A1) shows a moderately enlarged heart with an egg-on-side configuration and increased pulmonary vascularity. The superior mediastinum is narrow because of thymic hypoplasia. Note that the anterior upper mediastinum is empty in lateral view (Fig. 46A2).
Figure 46B Schematic diagram of four types of truncus arteriosus as described by Collet and Edwards.
Diagnosis
Truncus arteriosus with DiGeorge syndrome
Differential Diagnosis
Egg-on-side appearance:
Complete transposition of the great arteries: pulmonary vascularity, variable
Pulmonary atresia with intact ventricular septum: diminished pulmonary vascularity
Truncus arteriosus: increased pulmonary vascularity
Boot-shaped heart: In truncus arteriosis the heart may also be boot shaped, but this is less common.
Tetralogy of Fallot: normal heart size and diminished pulmonary vascularity
Pulmonary atresia with ventricular septal defect: normal heart size with diminished pulmonary vascularity or enlarged heart with increased pulmonary vascularity
Truncus arteriosus: moderate cardiomegaly with increased pulmonary vascularity
Narrow superior mediastinum:
Complete transposition of the great arteries with postnatal regression of the thymus
Truncus arteriosus with thymic hypoplasia in association with DiGeorge syndrome or postnatal regression of the thymus
Discussion
Clinical Findings
Most patients with truncus are recognized as having congenital heart disease during the neonatal period. During the first few weeks of life, persistence of increased pulmonary vascular resistance results in mild cyanosis with little evidence of heart failure. As the pulmonary vascular resistance decreases, cyanosis may disappear and be replaced by signs of congestive heart failure. When the truncal valve is severely regurgitant, the signs of congestive heart failure may manifest immediately after birth. Generally, the heart is overactive, and a pansystolic murmur is heard at the left precordium. Microdeletion of chromosome 22q11 is seen in ~40% of patients with truncus, and patients with this deletion include DiGeorge and velocardiofacial syndrome cases.
What syndrome is this finding associated with
http://www.ajnr.org/content/35/11/2186
Di George
CATCH22
C - cavum septum pelucidum, cleft palate,
A - Abnormal Facies (hypertelorism, low set ears, short philtrum, among others)
T - Trunchus ateriosus, Thymic Hypoplasia
C - cardiac anomalies
H - hearing problems. Middle ear malformations. Hypoparathyroidism
22 - Microdeletion of 22q11.2
The Cri du Chat Syndrome
A. Everette James, Jr., Leonard Atkins22, Murray Feingold33, Murray L. Janower44
Author Affiliations
Published Online:Jan 1 1969https://doi.org/10.1148/92.1.50
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Abstract
SINCE THE discovery, in 1956, of the normal human chromosome number, four clinical syndromes associated with autosomal anomalies have been described. Lejeune, in 1963 (8), first recognized the cri du chat or “cat’s cry” syndrome which is the most recently appreciated of the four autosomal syndromes and the subject of this paper. Although over 60 cases of this syndrome have been recorded, only one description could be found in the radiologic literature (7).
Karyotype
The karyotype in children with the cri du chat syndrome contains the normal number of 46 chromosomes, but one of the members of the B group (Denver 4–55) has a deletion of much of the short arms (1) (Fig. 1). On the basis of autoradiographic studies of synthesis patterns of deoxyribonucleic acid and analysis of the long and short arm length, it is thought that the deletion involves number 5 chromosome in the majority of cases (15). Those with a deletion involving the short arms of number 4 chromosome are clinically indistinguishable from the usual case.
Clinical Features
Characteristic clinical features of the cri du chat syndrome are growth and mental retardation, muscle hypotonia, micrognathia and retrognathia, low-set ears, moon facies, oblique palpebral fissures with anti-mongoloid slants, and hypertelorism (Fig. 2), associated with a strange high-pitched plaintive cry reminiscent of the mewing of a distressed kitten (2,4–6,8–10). This “cat’s cry” is considered by most pediatricians to be diagnostic and is probably due to the immature larynx and epiglottis present in these children (13). Although the character of the cry changes as the child matures, it remains distinctly abnormal (12). Sound spectrograms will continue to show a high fundamental tone (14). The cry is so characteristic that physicians familiar with this syndrome have made the correct diagnosis from sound recordings without ever having seen the patient.
Radiographic Findings
Radiographic features in our 6 cases of this syndrome are microcephaly, low craniofacial vault ratio (Fig. 3), hypertelorism (Fig. 4), and faulty long-bone development secondary to muscle hypotonia. The most characteristic abnormalities are found on the skull radiograph. This microcephaly, low craniofacial vault ratio, and hypertelorism must be differentiated from the skull findings in trisomy 13–15 (11), trisomy 18 (3), and Pierre-Robin syndrome. Occasionally abnormalities are noted on the pelvic radiographs in which the acetabular angle is normal, but the iliac angle is increased. Other abnormalities that have been encountered are agenesis of the corpus callosum, horseshoe kidney, and congenital heart disease. These findings are not consistent, and our experience is too limited to consider them characteristic.
The radiographic features of the cri du chat syndrome are not as specific as those found in trisomy 13–15, trisomy 18, and mongolism (trisomy 21–22), and one must depend greatly upon clinical findings.
Lack of Myelination in the Anterior Limbs of the Internal Capsule Associated with Cri-du-Chat Syndrome: Case Report
H. Lee, S. You, +1 author Hyun-Hae Cho
Published 2015
Medicine
Investigative Magnetic Resonance Imaging
A 21-month-old girl with cri-du-chat syndrome in conjunction with developmental delay underwent brain magnetic resonance imaging (MRI). The MRI showed hypoplasia of the brain stem, a normal cerebellum, thinning of the corpus callosum, and a lack of myelination in both anterior limbs of the internal capsule. She also had neonatal bilateral subependymal cysts. We believe that the symmetrical lack of myelination in both anterior limbs of the internal capsule could be a diagnostic clue of cri-du-chat syndrome. LESS
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NF 1
MNEMONIC
CAFE SPOT
- Cafe au lait spots >6 in one year
- Axillary freckles
- Fibromas (neurofibromas 2 or plexiform 1)
- Eye hematomas - lisch nodules
- Sphenoid wing dysplaisa
- Positive family hx (Autosomal dominant)
- Optic nerve gliomas/Tumours
NF 2 Mnemonic
Mnemonics
MISME
M: multiple
I: inherited
S: schwannomas
M: meningiomas and
E: ependymomas
In fact, labeling this disorder neurofibromatosis type 2 is a misnomer, because neurofibromas are not a part of its constellation of abnormalities 1.
Rule of 2s
neurofibromatosis type 2
chromosome 22 (22q12) gene location
bilateral vestibular schwannomas
presents in 2nd-4th decades (around 20 years)
initial prevalence estimated to be 1:200,000, now thought ~1:25,000
what syndrome is this. What are the 3 main features of the syndrome. What is the risk of x cancer.
Birt-Hogg-Dubé syndrome
Dr Patrick Rock◉ and Dr Maxime St-Amant◉ et al.
Birt-Hogg-Dubé syndrome or folliculin gene-associated syndrome is a genetic multisystemic disease mainly characterised by:
multiple lung cysts and secondary spontaneous pneumothoraces
multiple bilateral renal tumours (particularly chromophobe renal cell cancer and oncocytoma)
cutaneous manifestations (angiofibromas, perifollicular fibromas, acrochordons, fibrofolliculomas, etc.)
On this page:
Article:
Epidemiology
Pathology
Radiographic features
History and etymology
Differential diagnosis
See also
References
Images:
Cases and figures
Epidemiology
Birt-Hogg-Dubé syndrome carries an estimated 25% risk of renal cell carcinoma 12.
Pathology
Genetics
Deletion mutation in the folliculin (FLCN) gene (short arm of chromosome 17), with autosomal dominant inheritance.
Radiographic features
CT
Lung cysts in Birt-Hogg-Dubé syndrome are usually multiple and have a lower zone predominance 11. Cyst morphology tends to be variable within each patient, with cysts commonly oval or lentiform and septated when large 4. The presence of paramediastinal cysts when disproportionate in number or oval (floppy) in shape is another distinguishing characteristic 11.
History and etymology
It is named after A R Birt, G R Hogg and W J Dubé who published their findings in 1978 7.
Differential diagnosis
Consider other cystic lung conditions such as:
lymphangioleiomyomatosis
cysts typically round, with diffuse (rather than lower zone) distribution
Langerhans cell histiocytosis
cysts variable in shape but classically co-existing with cavitating nodules. There is upper and mid zone predominance in size and number of cysts with sparing of costophrenic angles in contrast to lower lobe predominance in Birt Hogg Dube syndrome.
lymphocytic interstitial pneumonitis
co-existing ground-glass opacity and other parenchymal change
desquamative interstitial pneumonia
co-existing ground-glass opacity and other parenchymal change
See also
hereditary renal cancer syndromes
https://radiopaedia.org/cases/26269/studies/26395?lang=gb&referrer=%2Farticles%2Fbirt-hogg-dube-syndrome-5%3Flang%3Dgb%23image_list_item_5269718
Currarino Syndrome
- Memory aid: rino eating curry running up bottom
- Congenital abnormalities of the
- anorectum
- sacrum
- presacral soft tissues
- AKA
- Currarino Triado
- ASP triad
- anorectal malformation or congenital anorectal stenosis
- sacrococcygeal osseous defect (ALWAYS PRESENT)
- classically a hemisacrum
- sickle shaped sacrum
- Presacral mass
- anterior sacral meningocele
- tumour (mature teratoma)
- Dermoid/epidermoid cyst (rare)
GOLDENHAR SYNDROME
- Oculo-auriculo-vertebral dysplasia
Klippel-Feli Syndrome
Sturge Weber Syndrome
Sturge Weber
Sturge-Weber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterised by facial port wine stains and pial angiomas.
Approximately a third of patients have choroidal or scleral angiomatous involvement, which may be complicated with retinal detachment, buphthalmos or glaucoma 1.
Sturge-Weber syndrome is a rare syndrome, with an incidence estimated at 1 case in 20,000-50,000 persons 11.
Dyke-Davidoff-Masson syndrome is a condition characterised by hemicerebral atrophy/hypoplasia secondary to brain insult usually in fetal or early childhood period and is accompanied by ipsilateral compensatory osseous hypertrophy and contralateral hemiparesis.
It is characterised by:
thickening of the skull vault (compensatory)
enlargement of the frontal sinus (also ethmoidal and mastoid air-cells)
elevation of the petrous ridge
ipsilateral falcine displacement
capillary malformations (are a novel finding for children with Dyke-Davidoff-Masson syndrome) 6
In some sources, it is equated to hemispheric infarction, whereas in other sources any cause of cerebral hemiatrophy is included.
Some authors divide the condition into two types mainly dependant on clinical presentation age 12
infantile (congenital):
results from various aetiologies such as infection, neonatal or gestational vascular occlusion involving the middle cerebral artery, unilateral cerebral arterial circulation anomalies, and coarctation of the mid aortic arch.
patient becomes symptomatic in the perinatal period or infancy.
acquired
main causes of acquired type are trauma, tumour, infection, ischaemia, haemorrhage, and prolonged febrile seizures
Tuberous Sclerosis Radial bands in white matter
Lesch-Nyhan syndrome
- Lesch-Nyhan syndrome
- inherited as an X-linked recessive genetic disorde
- most often affects males.
- Symptoms
- impaired kidney function,
- acute gouty arthritis
- self-mutilating behaviors
- lip and finger biting
- head banging.
Rosai-Dorfman disease
Large amount of contiguous well defined enhancing tissue in the paranasal sinuses, nasal cavity and adjacent to the greater wing of sphenoids.
Similar para-sagittal mass close to the vertex.
Case Discussion
Rosai-Dorfman disease (RDD) (also known as sinus histiocytosis with massive lymphadenopathy (SHML)) is a rare benign idiopathic proliferative disease that involve phagocytic histiocytes.
Patient with histologically proven Rosai-Dorfman Disease.
Microscopic appearance
Histologically, it is characterised by an attenuated infiltration of lymphoplasmacytic cells and histiocytes of varying sizes. The large, pale histiocytic cells contain what looks like engulfed lymphocytes (“emperipolesis”) within their cellular borders.
https://radiopaedia.org/cases/rosai-dorfman-disease-2
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
Tullio phenomenon
NF 2 comprises of what?
Mnemonic
MISME
- M: multiple
- I: inherited
- S: schwannomas
- M: meningiomas and
- E: ependymomas
- In fact, labelling this disorder neurofibromatosis type 2 is a misnomer, because neurofibromas are not a part of its constellation of abnormalities 1.
Felty syndrome
Assoc Prof Craig Hacking◉◈ and Dr Yuranga Weerakkody◉ et al.
Felty syndrome is a rare haematological syndrome in rheumatoid arthritis.
Epidemiology
It is thought to occur in ~ 1% of patients with rheumatoid arthritis 2.
Clinical presentation
Felty syndrome comprises of the triad of:
rheumatoid arthritis
typically with severe articular and extra-articular disease
splenomegaly
neutropenia
Additionally, patients may have bicytopaenia or pancytopaenia, recurrent bacterial infections, and non-cirrhotic portal hypertension.
Pathology
Serological markers
rheumatoid factor (RF): >95% of patients are positive 5
antinuclear antibody (ANA): 47-100% are positive 5
HLA-DR4*0401 antigen: 78% of patients have the antigen 5
large granular lymphocyte (LGL) expansion: ~ 30% of patients may have it 5
Treatment and prognosis
Treatment is through immunosuppression to treat Felty syndrome and rheumatoid arthritis, such as use of methotrexate and rituximab 6. If frequent severe bacterial infections, G-CSF may be administered 6.
History and etymology
It is named after Augustus Roi Felty (1895 -1964), an American physician 1.
Differential diagnosis
large granular lymphocyte (LGL) leukaemia 6
? % of pts with this condition who develop CRC
- common cancers
- gene
- varieties (3)
Ddx
Familial adenomatous polyposis syndrome
Dr Joachim Feger◉ and Dr Henry Knipe◉◈ et al.
Familial adenomatous polyposis syndrome (FAPS) is characterised by the presence of hundreds of adenomatous polyps in the colon. It is the most common of the polyposis syndromes.
Terminology
Familial polyposis coli, attenuated familial adenomatous polyposis and Gardner syndrome are all variants of the same disease and FAPS is used to described the entire spectrum.
Epidemiology
Familial adenomatous polyposis syndrome affects 1 in 10,000 births 1,3. The average age of presentation is 16 years.
Associations
colorectal carcinoma (see below)
hepatoblastoma (400-fold increased risk compared to general population 3)
extracolonic polyps (stomach, duodenum)
desmoid tumours
osteomas
dental anomalies
congenital hypertrophy of the retinal pigment epithelium
papillary thyroid carcinoma - usually cribriform morular variant 8
Clinical presentation
Typical symptoms and signs include rectal bleeding, diarrhoea, abdominal pain, anaemia, and/or mucosal discharge 4. Polyps usually develop around puberty 5.
Pathology
Familial adenomatous polyposis syndrome is characterised by the presence of hundreds or thousands of colonic adenomatous polyps, usually tubular or tubulovillous. The rectum is occasionally spared. Less commonly they affect the small bowel and stomach.
Genetics
Familial adenomatous polyposis syndrome results from mutation of the tumour suppressor adenomatous polyposis coli (APC) gene located on chromosome 5q21-2. Around one-third of cases are thought to be sporadic (i.e. no family history) and two-thirds thought to be familial 1.
MUTYH gene has been associated with APC-negative FAPS; this has an autosomal recessive inheritance 6 and this is often called MUTYH-associated polyposis (MAP).
Variants
There are three variants of FAPS:
Gardner syndrome
attenuated familial adenomatous polyposis
familial polyposis coli
Radiographic features
Familial adenomatous polyposis syndrome has a varied imaging appearance and demonstrate innumerable polyps. Imaging usually underestimates the number of polyps because most are <5 mm in size. Features of colorectal carcinoma (CRC) should also be actively sought out.
Treatment and prognosis
Familial adenomatous polyposis syndrome accounts for 0.5% of CRC cases with ~7% of FAP carriers developing CRC by age 21 with almost every carrier developing CRC by 35-40 years 1,2.
Total colectomy with ileoanal anastomosis is generally considered the surgical treatment of choice 5.
Differential diagnosis
Other polyposis syndromes should be considered 6:
Cronkhite-Canada syndrome
Peutz-Jeghers syndrome
Cowden syndrome (multiple hamartoma syndrome)
juvenile polyposis syndrome
FAMILIAL ADENOMATOUS POLYPOSIS
= FAMILIAL MULTIPLE POLYPOSIS
=autosomal dominant disease with 80% penetrance (gene for
familial polyposis localized on chromosome 5); sporadic
occurrence in 113
Incidence:
1-;-7,000 to 1-;-24,000 live births
Histo: tubular I villotubular adenomatous polyps; usually
about 1,000 adenomas
Age: polyps appear around puberty
• family history of colonic polyps (66%)
0 Screening of family members after puberty!
• clinical symptoms begin during 3rd-4th decade (range 5-55
years)
• vague abdominal pain, weight loss
• diarrhea, bloody stools
• protein-losing enteropathy (occasionally)
Associated with:
(I) Hamartomas of stomach in 49%
(2) Adenomas of duodenum in 25%
(3) Periampullary carcinoma
(4) Desmoid tumors in 9-18%
–1 “carpet of polyps” = myriad of 2-3 mm (up to 2 em) polypoid
lesions
@ Colon (100%): more numerous in distal colon; always
affecting rectum
‘>I normal haustral pattern
@ Stomach (5%)
@ Small bowel (<5%)
Cx:
malignant transformation of adenomas in: colon>
stomach> small bowel (in 12% by 5 years; in 30% by
10 years; in 100% by 20 years after diagnosis; age at
carcinomatous development usually 20-40 years;
multiple carcinomas in 48%)
0 331-fold increased risk of small bowel
adenocarcinoma compared to general population after
colectomy
0 Periampullary carcinoma is the most common cause
of death after prophylactic colectomy!
Rx:
prophylactic total colectomy in late teens I early twenties
before symptoms develop
(1) Permanent ileostomy
(2) Continent endorectal pull-through pouch
(3) Kock pouch(= distal ileum formed into a one-way
valve by invaginating the bowel at skin site)
DDx: other polyposes, lymphoid hyperplasia, lymphosarcoma,
ulcerative colitis with inflammatory pseudopolyps
? disease/syndrome
Cancers a/w. syndrome
Gene
incidence
age of presentation
Lynch Syndrome
= HEREDITARY NONPOLYPOSIS COLORECTAL CANCER
SYNDROME
= families with high incidence of colorectal cancers
+increased incidence of synchronous and metachronous
colorectal cancers
Amsterdam criteria :
(a) ;::3 family members of whom 2 are 1st degree relatives
of the third
(b) family members in ;::2 generations
(c) one family member diagnosed <50 years of age
Lynch I
no associated extracolonic cancer
Lynch II = associated with extracolonic malignancy:
transitional cell carcinoma of ureter+ renal
pelvis; adenocarcinoma of endometrium,
stomach, small bowel, pancreas, biliary tract,
brain; hematologic malignancy; carcinoma of
skin +larynx
Etiology: autosomal dominant abnormality of chromosome 2
with defect in DNA replication-repair process
(a) accelerated adenoma-carcinoma sequence
(b) dysplasia in flat mucosa of colon
Prevalence : 5-10% of patients with colon cancer;
5 x more common than familial adenomatous
polyposis syndrome
Mean age: 45 years
Location:
70% proximal to splenic flexure
Prognosis: better stage for stage than in other cancers
(5-year survival rate of 65% versus 44% in
sporadic cases)
Surveillance: colonoscopy every 1-2 years from ages
22-35 years
Hereditary non-polyposis colorectal cancer
Dr Owen Kang◉ and Assoc Prof Frank Gaillard◉◈ et al.
Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an autosomal dominant condition which predisposes to a host of malignancies, including colorectal carcinoma. It is considered the most frequent form of hereditary colorectal cancer. Diagnosis requires evaluation using clinical criteria (see: Amsterdam criteria for HNPCC).
Epidemiology
Lynch syndrome is the most common cancer syndrome, affecting 1 in 400 persons 3. Typically HNPCC patients present in their forties and fifties with colorectal cancer 2, or with one of the associated malignancies. It is 5 times more common than familial adenomatous polyposis syndromes (FAP) 6. It is the most common hereditary cause of endometrial cancer 9.
Pathology
HNPCC is due to mutations in DNA mismatch repair (MMR) genes 2, resulting most frequently in colorectal carcinoma (10-82% lifetime risk 9) as well as extracolonic malignancies, including 1,2:
genitourinary tract malignancies
endometrial carcinoma: 15-60% lifetime risk 9, most often endometrioid type
ovarian tumour: 4-12% lifetime risk 9
prostate cancer: 30% lifetime risk 9
urothelial tract cancer: 1-7% lifetime risk 9
small bowel cancer: ~5% lifetime risk 4
duodenum 45%
jejunum 29%
ileum 12%
not specified 14%
gastric cancer: 6-13% lifetime risk 9
hepatobiliary tract malignancies: 1-4% lifetime risk 9
pancreatic malignancies: 1-6% lifetime risk 9
CNS tumours: most often glioblastoma
There is a described association with breast malignancy, although the relationship is inconsistent 9. The MMR genes most commonly affected are MLH1, MSH2 (these two 70-85% of cases, MSH6, and PMS2 or EPCAM, an upstream gene in MSH2 expression 3.
Variants
Muir-Torre syndrome: HNPCC-variant with sebaceous tumours and keratoacanthocytomas
Radiographic features
Radiographic features are related to the underlying conditions:
colorectal carcinoma (CRC): more frequently right sided (70% proximal to the splenic flexure) 6. Despite the name, colorectal cancers arise from adenomatous polyps. Diffuse polyposis is characteristically absent.
small bowel adenocarcinoma: most commonly duodenal
endometrial carcinoma
ovarian tumours
urinary tract malignancies
Treatment and prognosis
The high risk of colorectal carcinoma warrants screening of the colon every 1 to 2 years starting from 25-40 years of age 2,3 and may require colectomy. With close surveillance and resection of any adenomas which develop, the risk of CRC can be reduced by 60% 3.
Due to a high number of extracolonic tumours, various screening programs have been instituted. Examples include transvaginal ultrasound screening of the uterus and ovaries (in post-menopausal women 9, at the clinician’s discretion) and serum CA-125 2. One follow up regimen recommends annual transvaginal ultrasound and endometrial biopsy 3, although screening should be individualised 9.
History and etymology
Lynch syndrome was first described by Aldred Scott Warthin (1866-1931) 8, an American pathologist, from University of Michigan in Ann Arbor, Michigan, in 1913, after research into a family with several members with cancers. In the mid 1960s, Henry T Lynch (1928-fl.2019), an American oncologist, published further detailed painstaking work on the same family studied by Warthin, shedding further light on these apparently hereditary cancers 7. The condition was later renamed after Lynch who doggedly pursued the then heterodoxy that cancer could be hereditary
In the left upper quadrant, anterior to the renal pelvis, is a focal region of mural thickening with consistent (in a patient with known Lynch syndrome) with a DJ flexure adenocarcinoma. Note the previous colectomy.
Case Discussion
This patient has known Lynch syndrome and has had prophylactic colectomy.
Presents with DJ flexure adenocarcinoma, confirmed at laparotomy.
Name this Syndrome!
https://www.researchgate.net/figure/Carney-s-Triad-Enhanced-CT-CoronalA-Bilateral-pulmonary-chondromas-yellow-arrows_fig7_319493864
- Gastric Leiomyosarcoma/GIST
- Extraadrenal paraganglioma
- Pulmonary chondroma
Carney triad
Dr Bahman Rasuli◉ and Assoc Prof Frank Gaillard◉◈ et al.
Carney triad is a rare syndrome defined by the coexistence of three tumours:
extra-adrenal paraganglioma (e.g. spinal paraganglioma)
initially, only functioning extra-adrenal paragangliomas were included, but subsequent work includes non-functioning extra-adrenal paragangliomas 1
gastric gastrointestinal stromal tumours (GIST)
pulmonary chondroma
CARNEY Triad
In most cases, only 2 of the 3 tumours are present at the time of diagnosis. It typically affects young people.
Terminology
It is not to be confused with the related Carney-Stratakis syndrome, or the unrelated Carney complex
History and etymology
First described by J Aidan Carney, an American professor of pathology, and colleagues in 1977 5.
what is this Syndrome?
Trevors disease
- Dysplasia epiphysealis hemimelica (DEH),
- also known as Trevor disease,
- is an extremely rare,
- non-hereditary disease
- osteochondromas arising from the epiphyses.
- Epidemiology
- The incidence is estimated at ~1:1,000,000
- There is a recognised male predilection (M:F = 3:1).
- It usually presents in young children.
- Classification
- classic form: characteristic hemimelic distribution involving more than one bone or epiphysis within a single lower extremity
- localised form: single bone affection unilateral or bilateral
- generalised form: involving the whole limb from pelvis to foot
- Aetiology
- The aetiology is uncertain but is thought to be congenital
- Image:
- Same patient with dysplasia epiphysealis hemimelica, age 8 years.
- (a) Photograph of the lower limbs showing reduced degree of big toe discrepancy post epiphysiodesis (white arrow).
- There is now bowing of the tibia and bony deformity at the periarticular region of the medial aspect of the knee and ankle joints (black arrows).
- (b) Anteroposterior foot radiograph showing more prominent epiphyseal bony outgrowths and deformity of the metatarsal, medial cuneiform and navicular bones (white arrows).
- (c) Anteroposterior bilateral tibia fibula radiograph showing more prominent epiphyseal osseous lesions (white arrows). There is now gross deformity of the ankle joint with ankylosis (white arrows). Findings are now more supportive of epiphyseal origin of the lesions.
What is this disorder?
what blood test is postive in 90%?
what organs are affected?
- Granulomatosis with Polyangitis
- AKA Wegener granulomatosis
- Multisystem necrotising,
- necrotising non-caesating granulomatous
- c-ANCA +ve in 90%
- predilection for the lungs and kidneys
- Pathology
- Autoimmune vasculitis of small to medium sized arteries, capilaries and veins
- Epidemiology
- slight male predominance,
- >50yo
- Clinical presentation:
- Cough
- haemoptysis,
- proteinuria,
- haematuria
- Radiology
- Lungs:
- Interstitial fibrosis at the bases,
- pulmonary nodules,
- cavitating in 50% of cases.
- Pleural effusions and
- mediastinal nodes.
- Sinus:
- mucosal ulceration and granulmonatous
- masses within the nasal cavities with
- adjacent boney and cartilaginous destruction.
- Splenic:
- can cause splenic infarct. .
- Lungs:
Swyer-James syndrome (SJS),
- AKA
- Swyer-James-MacLeod syndrome and
- Bret syndrome,
- rare lung condition
- unilateral hemithorax lucency
- result of postinfectious obliterative bronchiolitis.
- typically follows a viral respiratory infection in infancy or child hood;
- adenoviruses or
- Mycoplasma pneumoniae
- Non-infectious cause includes ingestion of hydrocarbon.
- It has an estimated prevalence of 0.01%
Dyke-Davidoff-Masson syndrome
Dyke-Davidoff-Masson syndrome
- hemicerebral atrophy/hypoplasia
- secondary to brain insult usually in fetal or early childhood period
- accompanied by ipsilateral compensatory osseous hypertrophy and contralateral hemiparesis.
It is characterised by:
- thickening of the skull vault (compensatory)
- enlargement of the frontal sinus (also ethmoidal and mastoid air-cells)
- elevation of the petrous ridge
- ipsilateral falcine displacement
- capillary malformations (are a novel finding for children with Dyke-Davidoff-Masson syndrome) 6
epidermal naevus syndrome
Epidermal naevus syndrome
- AKA
- Solomon’s syndrome
- Feuerstein and Mims syndrome,
- what
- represents a group of distinct disorders related to the presence of epidermal naevi and extracutaneous anomalies.
- It is a syndrome linked to mosaicism
- There are nine well defined epidermal naevus syndromes:
- Schimmelpenning syndrome
- phacomatosis pigmentokeratotica
- naevus comedonicus syndrome
- Becker naevus syndrome
- angora hair naevus syndrome
- Proteus syndrome
- type 2 segmental Cowden disease
- CHILD syndrome
- FGFR3 epidermal naevus syndrome
- CLOVE syndrome may also present with epidermal naevi.
- History and etymology
- Solomon et al. described ENS as one single entity characterised by the coexistence of epidermal naevi and extracutaneous anomalies 1.
what is this syndrome?
What is the clinical triad?
- Klippel-Trénaunay-Weber syndrome
- very rare congenital disorder that is characterised by a triad of:
- cutaneous capillary malformations: port wine naevi
- limb overgrowth: bony or soft tissue hypertrophy of an extremity (localised gigantism)
- varicose veins or venous malformations of unusual distribution
- It is considered an angio-osteo-hypertrophic syndrome.
McCune-Albright syndrome is a genetic disorder characterised by the association of:
- endocrinopathy: precocious puberty
- polyostotic fibrous dysplasia: more severe than in sporadic cases
- cutaneous pigmentation: coast of Maine ‘café au lait’ spots
Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterised by asymmetrical overgrowth of almost any part of the body and a broad spectrum of manifestations. It can affect tissue from any germinal layer. It is suspected to be a genetic condition, but a particular gene is not currently identified.
- cerebriform connective tissue naevus: virtually pathognomonic
- epidermal naevus
- disproportional overgrowth: hemihypertrophy/partial gigantism
- limbs
- vertebrae
- calvarial thickening
- rarely: external auditory meatus, viscera (spleen, kidney, thymus)
- macrodactyly
- dysregulation of adipose tissue:
- lipoma, regional absence of fat, overgrowth of fat in the posterior/anterior body wall or un subcutaneous fat of the extremities
- vascular malformations: capillary, venous or lymphatic
CLOVES syndrome is an acronym denoting a rare condition consisting of:
- Congenital Lipomatous Overgrowth
- Vascular malformations
- Epidermal naevi
- Skeletal/Scoliosis/Spinal anomalies
- truncal subcutaneous fatty overgrowth, most commonly located midline at the dorsal aspect of the chest 6
- wide feet and hands
- sandal gap deformity 3
- macrodactyly
- scoliosis
- enlarged peripheral nerves
- CNS manifestations, including neuronal migration defects, hemimegalencephaly, ventriculomegaly, dysgenesis of the corpus callosum, tethered spinal cord, and neural tube defects
what are the four features of this condition?
AR or AD?
Underlying pathology?
- Kartagener syndrome (also known as Kartagener-Afzelius syndrome) is a subset of primary ciliary dyskinesia
- Autosomal recessive condition
-
Four Key Clinical features:
- Chronic Sinusitis/Nasal Polyposis
- Male infertility
- Situs Inversus
- lower lobe bronchiectasis
- Pathology:
- abnormal ciliary structure or function, leading to impaired mucociliary clearance.
Triad of this condition
Associations
Part of which spectrum
What is this sign?
Septo-optic dysplasia (SOD)
- AKA
- de Morsier syndrome
- optic nerve hypoplasia
- absence of the septum pellucidum
- hypothalamic-pituitary dysfunction (2/3 of pts)
- Part of the holoprosencephalyspectrum
- Associations:
- 50% a/w schizencephaly
- Types:
- No schizencephaly
- visual apparatus more severely affected
- hypothalamic-pituitary dysfunction present in 60-80% of patients
- may present as hypoglycaemia in the neonatal period
- small pituitary gland with hypoplastic or absent infundibulum
- ectopic posterior pituitary seen as a focus of T1 high signal intensity in the median eminence of hypothalamus
- olfactory bulbs may be absent (Kallmann syndrome)
- associated with schizencephaly
- optic apparatus less severely affected
- cortical anomalies:
- polymicrogyria,
- cortical dysplasia
- may be aetiologically different
- sometimes referred to as septo-optic dysplasia plus
- No schizencephaly
- In addition, a number of other associations are recognised including:
- rhombencephalosynapsis
- Chiari II malformation
- aqueductal stenosis
Selected image of coronal T2-weighted sequence showed the normal olfactory nerves (within the red cycles).
Selected image of coronal T2-weighted sequence showed point-down appearance of the anterior horns of the bilateral lateral ventricles (red arrows).
Selected image of sagittal T1-weighted sequence showed the ectopic posterior pituitary gland at the roof of the third ventricle (red circle).
Case Discussion
This is a case where most of the septo-optic dysplasia features are nicely demonstrated.
Hypoplastic optic nerves and chiasm, absence septum pellucidum with resultant typical configuration of the anterior horns of the lateral ventricles, along with ectopia of the posterior pituitary gland. On the other hand, the globes are intact and the olfactory bulbs are present with no evidence of associated parenchymal abnormality.
What is this syndrome?
- PHACES
- posterior fossa malformations
- hemangiomas
- arterial anomalises
- co-arctation of aorta.
- eye abnormalities
- Eitiology
- unknown.
- It appears to occur randomly (sporadically) for no known reason.
- There have not been reports of the disorder occurring in multiple members of the same family.
- Some researchers believe that the disorder results from an unknown postzygotic somatic mosaic mutation.
- Epidemiology
- PHACE syndrome affects more females than it does males, although researchers are not exactly sure why this is the case.
- DDx
- Sturge weber syndrome = capilary malformation (port wine stain in V1 distribution)
- eyes
- brain
- PHACES = haemangioma
- Sturge weber syndrome = capilary malformation (port wine stain in V1 distribution)
- Difference between vasuclar malformations and haemangioma:
- Both vascular tumors and malformations may occur anywhere on the body.
- hemangiomas
- vascular tumors that are rarely apparent at birth, grow rapidly during the first 6 months of life
- involute with time
- do not necessarily infiltrate
- but can sometimes be destructive.
- Vascular malformations
- are irregular vascular networks defined by their particular blood vessel type.
- In contrast to hemangiomas, they are present at birth, slow growing, infiltrative, and destructive.
- Almost all vascular malformations and nearly 40% of hemangiomas eventually require intervention.
- Difference between vasuclar malformations and haemangioma:
Pseudohypoparathyroidism
What are 3 syndromes a/w ASDs?
Associations ( Fig. 2.24 )
- Holt–Oram syndrome: ostium secundum defect
- Lutembacher syndrome: ASD and mitral stenosis
- Down syndrome: ostium primum defect
What are 2 causes of Congenital Peripheral PA Stenosis?
What syndrome is pictured?
Congenital Peripheral PA Stenosis
Causes
- Maternal rubella (common) (Image 2 wikipedia)
- Williams syndrome
- Image 1:
- 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
- renal artery stenosis
- Williams syndrome (WS), sometimes called Williams-Beuren syndrome, is characterised by some or all of the following features:
Case courtesy of Senior Radiographer 2 Elton John Decena, RRT., Radiopaedia.org, rID: 85039
What are the Clinical Findings of Congenital Aortic Stenosis (AS)?
What syndrome is associated with Congenital Aortic Stenosis?
Clinical Findings of Congenital Aortic Stenosis (AS)
- Most are asymptomatic.
- Severe AS leads to CHF in infancy.
- Supravalvular type associated with Williams syndrome:
- Mental retardation
- Peripheral pulmonary stenoses
- Diffuse AS
What are 8 associations of Aortic Co-arcation?
Associations
- Coarctation syndrome:
- triad of
- coarctation,
- PDA,
- VSD
- triad of
- In Turner syndrome, most common cardiac abnormality
- Bicuspid aortic valve, 50%
- Hypoplasia of the aortic isthmus (small arch)
- Circle of Willis aneurysms
- PDA aneurysm
- Intracardiac defects; occur in 50% with infantile type
- Marfan syndrome
Fat embolism syndrome (FES)
The classical clinical triad consists of:
Symptoms usually develop x days after the event.
CT findings;
- Lipid emboli from bone marrow enter pulmonary and systemic circulation when complicated by ARDS, has a high mortality rate
- Can also affect the CNS
- PResent initially with clear lungs, sudden onset of dyspnea and multiple fractures
- interstitial and alveolar hemorrhagic edema produces a varied radiographic appearance
- Opacities have a delayed onset
- clear in 3-7 days
- INTRO
- Fat embolism syndrome (FES) is a rare clinical condition caused by circulating fat emboli leading to a multisystemic dysfunction. The classical clinical triad consists of:
- respiratory distress
- cerebral abnormalities
- petechial haemorrhages
- Fat embolism syndrome (FES) is a rare clinical condition caused by circulating fat emboli leading to a multisystemic dysfunction. The classical clinical triad consists of:
- Epidemiology
- It occurs in ~2.5% (range 0.5-4%) of those with fat embolism, a phenomenon that subclinically occurs in a vast majority of patients (>90%) with bone fractures and during orthopaedic prosthetic procedures.
- Clinical presentation
- Symptoms usually develop 1-2 days after the event. Although fat emboli can virtually reach any organ in the body, the results of the embolic shower are most often evident in the lungs, brain, and skin.
- Pulmonary dysfunction is present in 75% of patients and is the earliest to be manifested 6. The presence of numerous fat globules in the small pulmonary vessels results in dyspnoea and further hypoxaemia.
- Neurological symptoms are seen in 86% of patients 6: ranging from acute confusion to drowsiness, rigidity, convulsions, or coma.
- The skin manifestation is characterised by a petechial rash in the chest, axilla, conjunctiva, and neck that appears within 24–36 hours and disappears within a week 6.
- Diagnosis
- Gurd’s and Wilson’s criteria requires the presence of at least one major and at least four minor criteria:
- Major criteria
- petechial rash
- respiratory insufficiency
- cerebral involvement
- Minor criteria
- tachycardia
- fever
- retinal changes
- jaundice
- renal signs
- thrombocytopenia
- anaemia
- high ESR
- fat macroglobulinaemia
- Pathology
- Fat particles, from bone marrow after lower extremity fracture, or from vessels and heart after cardiac surgery, are released in blood circulation then embolise to, and occlude, the pulmonary capillaries. Some of the fat globules can pass through the pulmonary capillaries and reach intracranial capillaries. Pathophysiology is thought to be most likely due to both mechanical obstruction as well as a secondary inflammatory response to the released free fatty acids from trapped fat particles within the small vessels. Consumptive thrombocytopenia and anaemia are common complications of fat embolism.
- Radiographic features
- Fat embolism syndrome remains a clinical diagnosis. Imaging may aid to exclude competing differential diagnosis or be suggestive of fat embolism.
- Chest
- CT
-
three predominate patterns are observed 1
- ground-glass change with geographic distribution
- ground glass opacities with interlobular septal thickening
- nodular opacities: no zone predominance or gravity dependence in the nodular pattern
- filling defects in pulmonary arteries are rarely described in non-fulminant syndromes
What Condtion is this?
What are the major findings?
Apert Syndrome
People with Apert syndrome can have distinctive malformations of the skull, face, hands, and feet.
Apert syndrome is characterized by craniosynostosis, a condition in which the fibrous joints (sutures) between bones of the skull close prematurely. This can cause the top of the head to appear pointed and can affect facial bones.
Certain fingers or toes may be fused or webbed.
Affected children may also have intellectual disability.
The severity of symptoms varies between individuals.
Apert syndrome almost always results from new genetic changes (mutations) that occur randomly. Rarely, it is inherited in an autosomal dominant pattern.
What syndrome is this?
What are 5 associated features?
AD/AR?
% with cardiac abnormalities?
Marfan Syndrome ( Fig. 2.67 )
- Marfan syndrome
- AD connective tissue disease (arachnodactyly) with cardiac abnormalities in 60%:
- Ascending aorta
- Aneurysm
- Aortic regurgitation (common)
- Dissection
- MV
- Prolapse (myxomatous degeneration)
- Mitral regurgitation
- Coarctation
- Chest deformity, kyphosis
- Arachnodactyly
- Excessive limb length
- Ascending aorta
What syndrome is this?
What are 2 associated CHD a/w this condition?
Turner Syndrome
- Coarctation, 15%
- Bicuspid aortic valve
Short fourth metacarpal bone.
Case Discussion
Hand radiograph of a 9 year old girl with Turner syndrome with marked shortening of the 4th metacarpal and a positive metacarpal sign.
In the metacarpal sign, a line drawn along the heads of the 4th and 5th metacarpals will intersect the head of the 3rd metacarpal if shortening is present. The shortened 4th metacarpal is the key to the sign.
The sign is positive in up to 9.6% of normal individuals 3. It is however seen in a variety of conditions.
For a gamut of this sign see: short 4th/5th metacarpal.
Syndromes associated with Paragangliomas
- NF1
- MEN 2a + 2b
- vHL
- Carney-Stratakis
- Paragangliomas are the most strongly hereditary group of tumours. The most common genetic cause of hereditary paragangliomas are mutations in the succinate dehydrogenase (SDH) subunit (SDHB, SDHD, SDHA or SDHAF2) 2.
- They are also associated with four clinical syndromes:
- von Hippel-Lindau syndrome
- multiple endocrine neoplasia types 2A and 2B
- neurofibromatosis type 1
- Carney-Stratakis syndrome
- von Hippel-Lindau syndrome and neurofibromatosis type 1 are more commonly associated with phaeochromocytomas.
- SDH mutations are common in head and neck paragangliomas,
- except for SDHB, which is associated with sympathetic paragangliomas.
- SDHB also confers a higher risk of malignancy 2.
- Crack the Core
- AML
- most common benign tuypour of the kidney
- 95% have macroscopic fat - defining feature
- usually incidental
- A/w TS/bourneville disease (case 1)
Bilateral diffuse involvement of the kidneys with multiple differential densities. The right-sided mass measures 125 x 163 mm and the left-sided mass 130 x 145 mm. Both masses have fatty components with CT density -33 HU. Contrast-enhanced scans show patchy and heterogeneous enhancement in the soft tissue and vascular component of the mass lesions. Normal excretion of contrast media was seen on both sides. Multiple areas of blood densities are noted on the right side suggesting haemorrhage. The uterus remains sub-involuted.
Case Discussion
Young female with a long history of chronic anaemia, with abnormal appearance of both kidneys discovered incidentally. CT images demonstrate bilateral giant renal angiomyolipomas. Being a common complication with giant angiomyolipomas more than 5 cm, haemorrhage may be the direct cause of the patient’s long-lasting anaemia. The patient’s renal function was within normal limits.
The patient had multiple facial angiofibromas by inspection which raises the odds of tuberous sclerosis.
- they can bleed if big enough>4cm
- ? grow/bleed more in preg
- they should never have calcifications if they do thick of RCC
- They can be lipid poor 5%. and those are T2 dark.
- case 2 = giant AML
PATHOLOGICAL SPECIMEN
- What is the inheritance pattern?
- What is the incidence?
- What are the clinical findings?
- What is the treatment?
- What is the malignancy risk?
Adult Polycystic Kidney Disease (Apkd) ( Fig. 4.5 )
- Intro:
- Cystic dilatation of collecting tubules, as well as nephrons
- (unlike MCD and infantile polycystic kidney disease in which only the collecting tubules are involved).
- AD trait (childhood type is AR).
- Incidence:
- 0.1% (most common form of cystic kidney disease; accounts for 10% of patients on chronic dialysis).
- Clinical
- Slowly progressive renal failure.
- Symptoms usually begin in 3rd or 4th decade, but clinical onset is extremely variable, ranging from palpable cystic kidneys at birth to multiple cysts without symptoms in old age.
- Enlarged kidneys may be palpable.
- Treatment
- Treatment is with dialysis and transplant.
- Malignancy
- No increased risk of malignancy.
SYNDROMES
What syndromes/diseases are a/w renal Cysts?
What are the differences in the morphology of the cysts?
- TS
- VHL
- BHD
- ARPCKD
- ADRCKD
- DICER
- Nephronopthisis
- Asphyxiating thoracic dys- trophy (Jeune syndrome)
- Meckel-Gruber syndrome;
- Joubert syndrome and related disorders;
- Ellis–van Creveld syndrome;
- short rib–polydactyly group
Fig. 63.1 (A) Postcontrast CT image shows bilateral renal cysts. There is a large cyst within the right kidney with thick enhancing septations (arrowhead). Note the multiple pancreatic cysts (arrow). (B) Axial image shows a mixed solid and cystic lesion in the left kidney (arrowhead), along with an enhancing nodule in the chord (arrow). (C)An additional complex cyst with enhancing septation is seen in the right kidney (arrowhead), along with a small enhancing lesion in the left kidney (arrowhead).
SYNDROMES
Re Tuberous Sclerosis describe the following:
Type of inheritance
Genes
Renal Findings
associated findings?
- INHERITANCE
- AD
- GENES
- TSC1,TSC2
- RENAL
- Bilateral renal cysts that vary in number and size;
- bilateral angiomyolipomas
- (may not contain appreciable fat at imaging)
- renal cell carcinoma (rare)
- HEART
- Cardiac rhabdomyomas;
- CNS abnormalities
- (eg, corti-cal tubers,
- subependymal nodules,
- subependymal giant cell astrocytoma);
- ABDO
- hepatic angiomyolipomas;
- pancreatic neuroendocrine tumors;
- LUNGS
- lymphangioleiomyomatosis;
- multifocal micronodular pneumocyte hyperplasia;
- BONES
- osseous sclerotic lesions (bone islands);
- VESSELS
- (eg, abdominal aorta aneurysms)
SYNDROME
What are the different Subtypes of RCC and their Associated syndromes/Hereditary Subtypes?
What is this Syndrome?
What needs to be excluded?
Wunderlich syndrome.
Case Discussion
- Predominantly echogenic lesion involving the upper pole of the right kidney associated with more complex appearing perinephric collection.
- CT scan of the abdomen confirms the presence of a fatty lesion in the upper pole of the right kidney consistent with angiomyolipoma complicated by haemorrhage.
- Incidental two tiny hepatic haemangiomas.
- Perirenal haemorrhage without a history of trauma complicating an angiomyolipoma is known as Wunderlich syndrome.
- If perirenal haemorrhage is encountered on ultrasound, a thorough workup should be performed to exclude a bleeding renal cell carcinoma.
- Case courtesy of Dr Hani Makky Al Salam, Radiopaedia.org, rID: 10090
SYNDROME
WHat is Liddles Syndrome?
Liddle’s syndrome
- Rare
- Child hood hyper tension
- Autosomal Dominant
- Excessive reabsorption of Na2+ and loss of K+
- Dysregulation of the epithelial sodium channel (ENaC) due to a genetic mutation at the 16p13-p12 locus.
- These channels are found on the surface of epithelial cells found in the kidneys, lungs, and sweat glands. The ENaC transports sodium into cells
- Aldosterone levels are high in hyperaldosteronism, whereas they are low to normal in Liddle syndrome.[6]
- also called Liddle syndrome[1] is a genetic disorder inherited in an autosomal dominant manner that is characterized by early, and frequently severe, high blood pressure associated with low plasma renin activity, metabolic alkalosis, low blood potassium, and normal to low levels of aldosterone.[1] Liddle syndrome involves abnormal kidney function, with excess reabsorption of sodium and loss of potassium from the renal tubule, and is treated with a combination of low sodium diet and potassium-sparing diuretics (e.g. amiloride). It is extremely rare, with fewer than 30 pedigrees or isolated cases having been reported worldwide as of 2008.[2]
Signs and symptoms[edit]
Children with Liddle syndrome are frequently asymptomatic. The first indication of the syndrome often is the incidental finding of hypertension during a routine physical exam. Because this syndrome is rare, it may only be considered by the treating physician after the child’s hypertensiondoes not respond to medications for lowering blood pressure.[citation needed]
Adults could present with nonspecific symptoms of low blood potassium, which can include weakness, fatigue, palpitations or muscular weakness (shortness of breath, constipation/abdominal distention or exercise intolerance). Additionally, long-standing hypertension could become symptomatic.[3]
Cause[edit]
This syndrome is caused by dysregulation of the epithelial sodium channel (ENaC) due to a genetic mutation at the 16p13-p12 locus. These channels are found on the surface of epithelial cells found in the kidneys, lungs, and sweat glands. The ENaC transports sodium into cells. The mutation changes a domain in the channel so it is no longer degraded correctly by the ubiquitin proteasome system. Specifically, the PY motif in the protein is deleted or altered so the E3 ligase (Nedd4) no longer recognizes the channel. This loss of ability to be degraded leads to high amounts of the channel being chronically present in the collecting duct. This results in a hyperaldosteronism-like state, since aldosterone is typically responsible for creating and inserting these channels. The increased sodium resorption leads to increased resorption of water, and hypertension due to an increase in extracellular volume.[4]
Liddle syndrome is inherited in an autosomal dominant fashion.
Diagnosis[edit]
Evaluation of a child with persistent high blood pressure usually involves analysis of blood electrolytes and an aldosterone level, as well as other tests. In Liddle’s disease, the serum sodium is typically elevated, the serum potassium is reduced,[5] and the serum bicarbonate is elevated. These findings are also found in hyperaldosteronism, another rare cause of hypertension in children. Primary hyperaldosteronism (also known as Conn’s syndrome), is due to an aldosterone-secreting adrenal tumor (adenoma) or adrenal hyperplasia. Aldosterone levels are high in hyperaldosteronism, whereas they are low to normal in Liddle syndrome.[6]
A genetic study of the ENaC sequences can be requested to detect mutations (deletions, insertions, missense mutations) and get a diagnosis.[7]
Case Discussion
- Medullary nephrocalcinosis.
- An infant suspected to have Liddle’s syndrome, screened for nephrocalcinosis.
- Case courtesy of Dr Hani Makky Al Salam, Radiopaedia.org, rID: 9899
- https://en.wikipedia.org/wiki/Liddle%27s_syndrome
CROUZONS
a-c Skull X-ray of a Crouzon’s patient at the age of a 1 week, b 2 months and c 5 months. Note the progressive synostosis of the coronal and lambdoid suture and the progressive increase in fingerprint impressions
http: //www.sargentcraniofacial.com/procedures/Crouzon
https: //www.researchgate.net/figure/a-c-Skull-X-ray-of-a-Crouzons-patient-at-the-age-of-a-1-week-b-2-months-and-c-5-months_fig8_7865734
Fig. 1. Cleidocranial dysplasia; characteristic appearance. The forehead is bulky with a central depression, the eyes are widely spaced and the jaw is pointed. The clavicle is malformed (arrow).
https://www.sciencedirect.com/science/article/pii/S221244031200939X
Fig. 1. Cleidocranial dysplasia
Fig. 5. Skull radiograph showing very marked persistence of Wormian bones in the cranial sutures (arrow).
https://www.sciencedirect.com/science/article/pii/S221244031200939X
Bickers Adams Edwards Syndrome
Bickers Adams Edwards syndrome is a rare x-linked disorder with profound intellectual disability, adducted thumb and large head which is comprising of a constellation of congenital CNS anomalies including:
- congenital aqueductal stenosis
- corpus callosum agenesis
- absence of the medullary pyramids
- corticospinal tracts agenesis
Genetic counseling is recommended due to high rate of disease in following pregnancies.
https: //www.karger.com/Article/Pdf/119619
https: //radiopaedia.org/articles/bickers-adams-edwards-syndrome-2
Plummer-vinson syndrome
LUTEMBACHER
Lane Hamilton syndrome
http://www.tropicalgastro.com/articles/39/1/Lane-Hamilton-Syndrome.html
Idiopathic pulmonary hemosiderosis (IPH) is manifest as a triad of pulmonary symptoms, alveolar opacities on chest radiographs, and iron deficiency anemia. The presence of hemosiderin in macrophages obtained in gastric or bronchoalveolar lavage is considered crucial in the diagnosis of pulmonary hemosiderosis. IPH in association with celiac disease (CD), known as Lane-Hamilton syndrome, could be due to the fact that both entities share a common pathogenic immune pathway. There are limited numbers of case reports of this syndrome in literature.
MELAS
mitochondrial encephalomyopathy, lactic acidosis, and stroke like episodes
on MR spectroscopy: increased lactate; decreased NAA
- CT
- multiple infarcts
- involving multiple vascular territories
- may be either symmetrical or asymmetrical
- parieto-occipital and parieto-temporal involvement is most common
- basal ganglia calcification 1,2
- more prominent feature in older patients
- atrophy 2
- multiple infarcts
- MRI
- acute infarcts
- swollen gyri with increased T2 signal
- may enhance
- subcortical white matter involved
- increased signal on DWI (T2 shine through) with little if any change on ADC: thought to represent vasogenic rather than cytotoxic oedema 3
- chronic infarcts
- involving multiple vascular territories
- may be either symmetrical or asymmetrical
- parieto-occipital and parieto-temporal most common
- MR spectroscopy:
- may demonstrate elevated lactate in otherwise normal appearing brain parenchyma or in CSF 3,4.
- acute infarcts
- Case courtesy of Dr Mustafa Takesh, Radiopaedia.org, rID: 78355
Posterior cortical atrophy (PCA), also called Benson’s syndrome, is a rare, visual variant of Alzheimer’s disease. It affects areas in the back of the brain responsible for spatial perception, complex visual processing, spelling and calculation.
LOFGRENS SYNDROME
Triad presentation of sarcoidosis.
