Rare Diseases Symptoms Automatic Extraction

Optic nerve enlargement in infantile form of Krabbe disease.

[krabbe disease]

Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder caused by dysfunctional galactosylceramidase activity. Infantile form is the most common subtype, occurring at about 6-month of age. We present a rare case of infantile KD with magnetic resonance imaging showing white matter, thalamic and basal ganglia lesions rarely associated with an enlargement of the optic nerves bilaterally.

Diseases presenting "white matter" symptom

  • 22q11.2 deletion syndrome
  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • canavan disease
  • classical phenylketonuria
  • cushing syndrome
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • kallmann syndrome
  • krabbe disease
  • neonatal adrenoleukodystrophy
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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