Rare Diseases Symptoms Automatic Extraction

Brain ultrasound in Canavan disease.

[canavan disease]

Canavan disease (MIM 271900) is a rare autosomal recessive leukodystrophy due to mutations in the ASPA gene (MIM 608034) and characterized by a clinical onset at 3-5 months of life, macrocephaly and poor head control, weak cry and suck, development regression and hypotonia. Here, we report cranial ultrasound findings at birth and at 4 months of age in a patient affected with Canavan disease. The comparison of our sonographic data with few other cases in literature allows us to suggest a characteristic pattern in Canavan disease.

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