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 "early onset" symptom

  • 22q11.2 deletion syndrome
  • alexander disease
  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • cadasil
  • canavan disease
  • coats disease
  • cohen syndrome
  • congenital diaphragmatic hernia
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • fabry disease
  • familial mediterranean fever
  • homocystinuria without methylmalonic aciduria
  • inclusion body myositis
  • kindler syndrome
  • krabbe disease
  • papillon-lefèvre syndrome
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • sneddon syndrome
  • triple a syndrome
  • von hippel-lindau disease
  • werner syndrome
  • wolf-hirschhorn syndrome

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