Rare Diseases Symptoms Automatic Extraction

An unusual presentation of juvenile Alexander disease.

[alexander disease]

Alexander disease is a rare leukodystrophy that most often presents in infancy but also includes neonatal, juvenile, and adult variants. Juvenile Alexander disease presents primarily with bulbar symptoms between 2 and 12 years of age. The diagnosis is often suggested by the clinical course and brain magnetic resonance image pattern and then confirmed by the presence of a mutation in the glial fibrillary acidic protein gene. A young girl presented with globus sensation and magnetic resonance imaging of the brain revealed abnormalities mainly involving white matter tracts of the medulla oblongata and cerebellum. The presence of a mutation in the glial fibrillary acidic protein gene confirmed the diagnosis of juvenile Alexander disease. A high index of clinical suspicion is necessary for the diagnosis of late-onset presentations of Alexander disease.

Diseases presenting "high index" symptom

  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • carcinoma of the gallbladder
  • child syndrome
  • cowden syndrome
  • cushing syndrome
  • cystinuria
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • hirschsprung disease
  • lamellar ichthyosis
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • pleomorphic liposarcoma
  • pyomyositis
  • scrub typhus
  • typhoid
  • well-differentiated liposarcoma
  • wiskott-aldrich syndrome

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