Rare Diseases Symptoms Automatic Extraction

Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old.

[cadasil]

Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) has always been considered to be a middle-age-onset disease. Diagnosis is confirmed by genetic testing and the finding of the Notch3 mutation or by skin biopsy. Imaging plays a pivotal and crucial role in confirming this diagnosis by identifying white matter changes early in the disease. This can be useful in screening symptomatic patients with a family history of the disease. CADASIL cases have been reported recently in children. We report our experience with CADASIL in a 3-year-old boy.

Diseases presenting "leukoencephalopathy" symptom

  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • canavan disease
  • epidermolysis bullosa simplex
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • krabbe disease
  • phenylketonuria
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated