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
Validation

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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