Items tagged “syndrome”
262 results found
Article
Hughes-Stovin syndrome
Hughes-Stovin syndrome (HSS) is a vasculitis that predominantly affects large vessels. The disease bears some resemblance to Behçet disease.
Epidemiology
Hughes-Stovin syndrome is very rare 7. It occurs predominantly between the 2nd to 4th decades. There is a recognized male predilection.
Cl...
Article
Goodpasture syndrome
Goodpasture syndrome, also referred as antiglomerular basement membrane (anti-GBM) antibody disease, is an autoimmune disease characterized by damage to the alveolar and renal glomerular basement membranes by a cytotoxic antibody. It is a type of pulmonary-renal syndrome.
Goodpasture syndrome i...
Article
HELLP syndrome
HELLP syndrome is a pregnancy-related condition and is an abbreviation for:
haemolysis
elevated liver enzymes and
low platelets
It is considered a severe and life-threatening form of pre-eclampsia although it can occur without co-existing pre-eclampsia.
Epidemiology
The estimated inciden...
Article
Opsomyoclonus
Opsomyoclonus (OMS), also known as dancing eyes-dancing feet syndrome and opsoclonus-myoclonus syndrome, is a clinical syndrome which has a strong association with neuroblastoma.
Clinical presentation
The “opso-“ refers to the presence of intermittent jerky eye movements (dancing eyes) and the...
Article
Lennox-Gastaut syndrome
Lennox-Gastaut syndrome is an epileptic encephalopathy characterized by refractory childhood-onset epilepsy accompanied by intellectual disability and psychiatric/behavioral disturbance.
Epidemiology
Lennox-Gastaut syndrome is thought to represent 1-2% of all patients with epilepsy 6. The cond...
Article
Carpal tunnel syndrome
Carpal tunnel syndrome results from compression of the median nerve (tunnel syndrome) within the carpal tunnel. It is a cause of significant disability and is one of three common median nerve entrapment syndromes, the other two being anterior interosseous nerve syndrome and pronator teres syndro...
Article
Waterhouse-Friderichsen syndrome
Waterhouse-Friderichsen syndrome, also known as purpura fulminans 9 or hemorrhagic adrenalitis 10, is characterized by adrenal insufficiency that results from atraumatic adrenal hemorrhage in consequence of septicemia.
Pathology
Waterhouse-Friderichsen syndrome is due to septicemia and common...
Case
Guillain-Barré syndrome
Published
31 Dec 2010
56% complete
MRI
Article
OEIS complex
The OEIS complex refers to the combined occurrence of:
an omphalocele
bladder exstrophy / cloacal exstrophy
an imperforate anus
and spinal anomalies: e.g
kyphoscoliosis
hemivertebrae
Epidemiology
The estimated occurrence is at around 1-200,000 to 400,000 live births 1,8.
Pathology
Pos...
Article
Fetal alcohol syndrome
Fetal alcohol syndrome (FAS) is a potential syndromic complication that can occur with maternal pre-natal alcohol exposure. It is also broadly categorized as fetal alcohol spectrum disorders (FASD) due to the fact that the fetus may not show all the features and the broad spectrum of effects on ...
Article
Whipple triad
Whipple triad is the clinical presentation of pancreatic insulinoma and consists of:
fasting hypoglycemia (<50 mg/dL or <2.7 mmol/L)
symptoms of hypoglycemia
immediate relief of symptoms after the administration of intravenous glucose
History and etymology
The triad and also the Whipple pro...
Article
Alien limb syndrome
Alien limb syndrome is a rare neurological phenomenon in which a patient has the impression that their limb does not belong to them and is controlled by some external force 1.
It can occur in a number of neurodegenerative diseases, typically those with cortical involvement, including:
cortico...
Article
Kufor-Rakeb syndrome
Kufor-Rakeb syndrome, also known as Parkinson disease-9 (PARK9), is a rare neurodegenerative disease, considered a form of Mendelian parkinsonism.
Epidemiology
This syndrome is very rare and was first described in an Arab consanguineous kindred 4. It has since been described in select familie...
Article
Posterior cortical atrophy
Posterior cortical atrophy, also known as Benson syndrome, is an uncommon neurodegenerative disease typically affecting individuals in the sixth and seventh decades of life. It is characterized by dysfunction of the parietal, posterior temporal, and occipital lobes which results in progressive a...
Case
Subclavian steal syndrome
Published
08 Mar 2011
87% complete
Ultrasound
CT
Article
Radial tunnel syndrome
Radial tunnel syndrome is an entity that refers to entrapment (tunnel syndrome) of the radial nerve in the forearm, as it occurs in the supinator syndrome. Some authors believe this is an early form of the posterior interosseous nerve syndrome 5.
Epidemiology
There may be a female predilection...
Case
Superior vena cava obstruction
Published
19 Mar 2011
92% complete
CT
Article
Down syndrome
Down syndrome (or trisomy 21) is the most common trisomy and also the commonest chromosomal disorder. It is a major cause of intellectual disability and has numerous additional multisystem manifestations.
Epidemiology
The approximate worldwide incidence is approximately 1 in 800 live births 15...
Article
Coffin-Lowry syndrome
Coffin-Lowry syndrome (CLS) is a rare X-linked genetic syndrome affecting multiple body parts.
Epidemiology
The condition tends to affect males much more due to its X-linked inheritance. The estimated incidence is at around 1:40,000-50,000.
Clinical presentation
It is characterized by a numb...
Article
Fraser syndrome
Fraser syndrome is an extremely rare congenital syndromic anomaly.
Epidemiology
The estimated incidence is at around 0.04:10,000 live-born infants and 1:10,000 stillbirths.
Clinical spectrum
The syndromic spectrum can comprise of:
cryptophthalmos
syndactyly: often cutaneous
tracheal atre...
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