Rare Diseases Symptoms Automatic Extraction

Krabbe disease: the importance of early diagnosis for prognosis.

[krabbe disease]

Krabbe disease (globoid cell leukodystrophy) is an inherited recessive autosomal leukodystrophy caused by deficiency of the enzyme galactocerebrosidase. The lack of this enzyme leads to the build-up of galactolipids that will promote the death of oligodendrocytes and the demyelination of the central and peripheral nervous systems. There are two clinical forms: early onset and late onset. This article reports a case of late onset Krabbe disease and discusses the importance of early diagnosis for its prognosis.

Diseases presenting "early onset" symptom

  • 22q11.2 deletion syndrome
  • alexander disease
  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • cadasil
  • canavan disease
  • coats disease
  • cohen syndrome
  • congenital diaphragmatic hernia
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • fabry disease
  • familial mediterranean fever
  • homocystinuria without methylmalonic aciduria
  • inclusion body myositis
  • kindler syndrome
  • krabbe disease
  • papillon-lefèvre syndrome
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • sneddon syndrome
  • triple a syndrome
  • von hippel-lindau disease
  • werner syndrome
  • wolf-hirschhorn syndrome

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