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 "macrocephaly" symptom

  • alexander disease
  • canavan disease
  • cohen syndrome
  • cowden syndrome
  • kabuki syndrome
  • monosomy 21
  • proteus syndrome
  • wolf-hirschhorn syndrome

This symptom has already been validated