Rare Diseases Symptoms Automatic Extraction

A 2-month-old infant with vomiting, seizures, and progressive apathy.

[alexander disease]

A 2-month-old infant was admitted to hospital because of recurrent vomiting for 1 week, progressive apathy, and focal seizures. The cranial MRI showed a noticeable result.

Diseases presenting "apathy" symptom

  • alexander disease
  • familial hypocalciuric hypercalcemia
  • homocystinuria without methylmalonic aciduria

This symptom has already been validated