Inherited metabolic disorders and cerebral infarction.

[homocystinuria without methylmalonic aciduria]

The association of genetic factors and cerebral infarction (CI ) has long been established . A positive family history alone is a recognized risk factor for CI and vascular events in general . However , there are certain inherited conditions that further increase the risk of stroke . These conditions are generally metabolic and mitochondrial genetic defects that have variable modes of inheritance . This article reviews major inherited metabolic disorders that predispose an individual to CI . Ten main conditions will be discussed : Fabry 's disease , cerebrotendinous xanthomatosis , tangier disease , familial hypercholesterolemia , homocystinuria , methylmalonic acidemia , glutaric aciduria type I , propionic acidemia , ornithine transcarbamylase deficiency and mitochondrial encephalopathy , lactic acidosis and stroke -like phenomenon .

Diseases
Validation

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