Galactosyl ceramide lipidosis (krabbe [1] syndrome; infantile globoid cell leukodystrophy; krabbe disease; globoid cell leukodystrophy) 4

General: Defect in metabolism of galactocerebroside; genetically determined demyelinating disease that is fatal in early childhood; both sexes affected; onset usually in first year of life; ambiguous onset; autosomal recessive; onset at age 4 to 6 months, although some late-onset cases have been reported; diagnosis is made after identification of 'globoid cells' in brain tissue.

Ocular: Photophobia; cortical blindness; optic atrophy; nystagmus.

Clinical: Hypersensitivity to external stimuli; rigidity; vomiting; seizures; episodic fever; mental retardation; death.

Brownstein S, et al. Optic nerve in globoid leukodystrophy (Krabbe's disease). Ultrastructural changes. Arch Ophthalmol 1978; 96:864-870.

Fiumara A, et al. Late onset globoid cell leukodystrophy: report on 7 new patients. Child Nerv Syst 1990; 6:194-l97.

Harley RD, ed. Pediatric Ophthalmology, 4th ed. Philadelphia: WB Saunders, 1998.

Krabbe KH. A new familial infantile form of brain sclerosis. Brain 1916; 39:74.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.