title: Galactosylceramide-beta-galactosidase deficiency in association with cherry red spot.
abstract: A 13-month-old white girl was the product of a normal pregnancy and delivered by caesarean section for breech presentation. Regression of motor milestones started by 11 months, when delayed language development was also noted. She was normocephalic without major dysmorphic features or organomegaly. Fundus examination disclosed a subtle cherry red spot bilaterally. No startle response was elicited. By 17 months she was extremely irritable and unable to tolerate liquids; there was symmetrical spasticity and florid cherry red spots. She died at 18 months of age. A systematic search for conditions associated with a cherry red spot was unrevealing. The absence of galactosylceramide galactosidase activity was unexpected and was confirmed on three occasions in two laboratories. Lactosylceramide I content, an enzyme thought to be identical to galactosylceramide-beta-galactosidase, was significantly decreased. The presence of a cherry red spot in Krabbe's disease, indicative of neuronal storage, has not been previously recognized. The existence of this variant has implications for genetic and biochemical studies.
authors: Johns Hopkins Medical Institutions, Baltimore, Maryland.
authors: S
authors: S
authors: Naidu
authors: K J
authors: KJ
authors: Hofmann
authors: H W
authors: HW
authors: Moser
authors: I H
authors: IH
authors: Maumenee
authors: D A
authors: DA
authors: Wenger
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005260:Female; D005696:Galactosidases / Q000172:deficiency*; D005698:Galactosylceramidase / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D009887:Ophthalmoscopy; D010786:Photoreceptor Cells / Q000503:physiopathology; D014057:Tomography, X-Ray Computed
chemical_list: D005696:Galactosidases; D005698:Galactosylceramidase