Items tagged “syndrome”
262 results found
Article
Moyamoya syndrome
Moyamoya syndrome, also termed the moyamoya pattern or phenomenon, is due to numerous conditions that can cause arterial occlusion of the circle of Willis, with resultant collaterals, and appearances reminiscent of moyamoya disease.
These conditions include 1-4 :
vessel wall abnormalities
int...
Article
Susac syndrome
Susac syndrome, also known as retinocochleocerebral vasculopathy or SICRET syndrome (small infarctions of cochlear, retinal and encephalic tissue), is a rare syndrome typically affecting young to middle-aged women that is clinically characterized by the triad of acute or subacute encephalopathy,...
Article
SMART syndrome
SMART syndrome, an acronym for stroke-like migraine attacks after radiation therapy syndrome, is an uncommon delayed complication of cerebral radiation therapy. It is probably a more severe manifestation of peri-ictal pseudoprogression (PIPG).
Epidemiology
SMART syndrome is encountered in ind...
Article
Mayer-Rokitansky-Küster-Hauser syndrome
Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), also known as Müllerian aplasia, is a congenital anomaly characterized by vaginal and uterine aplasia or agenesis 9. It is usually also associated with a spectrum of other genitourinary tract abnormalities. MRKH syndrome belongs to class I Mulleria...
Article
Urethral diverticulum
Urethral diverticula, or urethroceles, are focal outpouchings of the urethra. They should not be confused with a ureterocele of the distal ureter.
Epidemiology
Urethral diverticula occur far more frequently in women than in men and are estimated to occur in 1-6% of women, especially those with...
Case
Atrophic polycystic kidneys and Alport syndrome
Published
17 Oct 2010
92% complete
CT
Article
Alport syndrome
Alport syndrome is an X-linked dominant disease characterized by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions.
Clinical presentation
hematuria
sensorineural hearing loss: typically high frequency 2
ocular abnormalities
anterior lenticonus: most common ...
Article
Noonan syndrome
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 numbe...
Article
Fat embolism syndrome
Fat embolism syndrome (FES) is an uncommon clinical manifestation of a minority of individuals who have fat emboli. It is the result of innumerable small fat emboli leading to a multisystem dysfunction, classically characterized by the triad of:
respiratory distress
cerebral abnormalities
pet...
Article
Lateral medullary syndrome
Lateral medullary syndrome, also known as Wallenberg syndrome, is a clinical syndrome caused by acute ischemia or infarction of the lateral medulla oblongata due to occlusion of the intracranial portion of the vertebral artery, PICA or its branches 1-3.
Epidemiology
20% of ischemic strokes oc...
Article
Sulcal artery syndrome
Sulcal artery syndrome is a rare cause of spinal cord infarction involving the territory of one of the sulcal arteries, which are penetrating branches of the anterior spinal artery, each vessel supplying either left or right side of the cord, but not both. The result is an incomplete Brown-Séqua...
Article
Acute motor axonal neuropathy
Acute motor axonal neuropathy (AMAN) is characterized as progressive symmetrical flaccid paralysis with areflexia. It is a pure motor axonopathy and is a variant of Guillain-Barré syndrome.
Terminology
In 1991, a short-lived epidemic of Guillain-Barré syndrome (GBS) was seen in Northern China....
Article
Superior semicircular canal dehiscence syndrome
Superior semicircular canal dehiscence syndrome (SCDS) is an inner ear abnormality, where a clinical disequilibrium phenomenon is associated with the absence of the bony covering of the superior semicircular canal (SSCC).
Notably, this CT finding has also been described in ~10% of individuals w...
Article
Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome (SLOS) also known as 7-dehydrocholesterol reductase deficiency or RSH syndrome, is an inborn error of cholesterol synthesis.
Epidemiology
The estimated incidence is at 1:20,000-40,000 live births. Prevalence may be greater in Nordic countries.
Associations
Hirschs...
Article
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease).
Epidemiology
The combined prevalence for all types of Ehlers-Danlos syndrome is estimated to be at least 1 of every 5000 individuals. There is no significant gender predominance...
Article
Neu-Laxova syndrome
Neu-Laxova syndrome is a lethal autosomal recessive multiple malformation syndrome with a heterogeneous phenotype.
Clinical presentation
The clinical spectrum can be quite wide and includes:
dermal / cutaneous
severe skin restriction
ichthyosis
decreased fetal movement
marked intrauterine...
Article
Goldenhar syndrome
Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS), Goldenhar-Gorlin syndrome or facio-auriculo-vertebral dysplasia, is a complex congenital anomaly characterized by abnormalities of the ears, eyes and vertebrae.
Epidemiology
The estimated incidence is at 1 in 3000-5000...
Article
Bardet-Biedl syndrome
Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition.
Clinical presentation
The clinical spectrum includes:
retinal anomalies: similar to that of retinitis pigmentosa
intellectual disability
rena...
Article
Pena-Shokeir syndrome
The Pena-Shokeir syndrome (PSS) is an autosomal recessive nonaneuploidic condition with some clinical features being similar to that of trisomy 18. The condition is most often lethal.
Epidemiology
The estimated incidence is at ~1 in 12,000 births.
Clinical presentation
Features include 2,4:...
Article
Seckel syndrome
Seckel syndrome is an autosomal recessive congenital dwarfing disorder.
Epidemiology
The estimated incidence is ~1:10,000. There is no recognized gender predilection.
Clinical presentation
It is clinically characterized by many features including:
intrauterine growth restriction
postnatal ...