Rare Diseases Symptoms Automatic Extraction

Single-gene stroke disorders.

[hereditary cerebral hemorrhage with amyloidosis]

Monogenic causes of stroke are rare but should not be missed by the neurologist. The purpose of this review is to aid the reader in the evaluation of a patient with cryptogenic stroke with or without a family history suspicious for an inherited condition. The clinical findings, diagnosis, and management of monogenic causes of stroke and stroke look-alikes are discussed, including cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry's disease, vascular Ehlers-Danlos, Marfan syndrome, sickle cell disease, the thrombophilias, hereditary hemorrhagic telangiectasia, cerebral cavernous malformations, hereditary cerebral hemorrhage with amyloidosis, and mitochondrial encephalopathy, lactic acidosis, and strokelike episodes. A quick review of systems designed to screen for genetic stroke causes is presented. By correlating stroke subtype with phenotype, this review will familiarize the clinician with indications for focused genetic testing in appropriate patients.

Diseases presenting "stroke" symptom

  • acute rheumatic fever
  • adrenomyeloneuropathy
  • alexander disease
  • alpha-thalassemia
  • cadasil
  • cohen syndrome
  • dedifferentiated liposarcoma
  • fabry disease
  • heparin-induced thrombocytopenia
  • hereditary cerebral hemorrhage with amyloidosis
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kallmann syndrome
  • locked-in syndrome
  • malignant atrophic papulosis
  • neuralgic amyotrophy
  • sneddon syndrome
  • thoracic outlet syndrome
  • werner syndrome
  • zellweger syndrome

This symptom has already been validated