Rare Diseases Symptoms Automatic Extraction

Phenotypic variability of krabbe disease across the lifespan.

[krabbe disease]

Krabbe disease (galactocerebrosidase deficiency) is an inherited leukodystrophy that results in severe neurological defects due to altered myelination. Classically, disease onset is within the first year of life. Juvenile and adult-onset cases may have less classic presentations, making diagnosis difficult and often delayed. Here, we review the literature to demonstrate the hetereogeneity of presenting symptoms across all age groups. We also discuss diagnostic approach, emphasizing variation in biochemical, functional, and genetic results among Krabbe phenotypes. Better understanding of the various Krabbe disease phenotypes is critical to facilitate timely diagnosis and appropriate treatment of this clinically heterogeneous disorder.

Diseases presenting "first year" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • alpha-thalassemia
  • aniridia
  • benign recurrent intrahepatic cholestasis
  • child syndrome
  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cowden syndrome
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • gm1 gangliosidosis
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • krabbe disease
  • lymphangioleiomyomatosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • neonatal adrenoleukodystrophy
  • phenylketonuria
  • pleomorphic liposarcoma
  • pyruvate dehydrogenase deficiency
  • severe combined immunodeficiency
  • sneddon syndrome
  • waldenström macroglobulinemia
  • wolf-hirschhorn syndrome

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