Items tagged “syndrome”

259 results found
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

  Diagnosis probable
Hani Makky Al Salam
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

  Diagnosis certain
Hani Makky Al Salam
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

  Diagnosis certain
Hani Makky Al Salam
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...
Article

Megacystis microcolon intestinal hypoperistalsis syndrome

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS), also known as Berdon syndrome, is a rare congenital disorder characterized by a dilated non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract. Epidemiology There is a recognized strong female predile...