Rare Diseases Symptoms Automatic Extraction

[Canavan disease or N-acetyl aspartic aciduria: a case report].

[canavan disease]

Canavan disease or N-acetyl aspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of brain. The disease is an inborn error of metabolism caused by aspartoacylase deficiency resulting from accumulation of N-acetyl aspartic acid in the brain. The authors report a case in a 10-month-old boy who presented with developmental delay and megalencephaly noticeable after 4 months of age. Magnetic resonance imaging of the brain showed diffuse white matter degeneration. The diagnosis of Canavan disease was confirmed by nuclear magnetic resonance spectroscopy and gas chromatography-mass spectrometry.

Diseases presenting "developmental delay" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • alexander disease
  • alpha-thalassemia
  • aniridia
  • canavan disease
  • child syndrome
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cowden syndrome
  • gm1 gangliosidosis
  • harlequin ichthyosis
  • hirschsprung disease
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • kallmann syndrome
  • krabbe disease
  • lamellar ichthyosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • phenylketonuria
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • triple a syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated