Rare Diseases Symptoms Automatic Extraction

Infantile Alexander disease: A rare leukodystrophy.

[alexander disease]

Infantile Alexander disease (AD) is a rare leukodystrophy characterized by its early onset within 2 years of life and clinically presents with macrocephaly, seizures, and retarded psychomotor development. Magnetic resonance imaging (MRI) shows characteristic symmetric white matter abnormalities with frontal predominance. We present a case of infantile AD with typical clinical characteristics and MRI features.

Diseases presenting "psychomotor development" symptom

  • alexander disease
  • canavan disease
  • classical phenylketonuria
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • monosomy 21
  • pyruvate dehydrogenase deficiency
  • wolf-hirschhorn syndrome

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