Krabbe (2) syndrome (sturge-weber-krabbe syndrome; galactocerebrosidase deficiency) 6

General: Etiology unknown; some evidence of irregularly dominant transmission; variant of Sturge-Weber 535c23f syndrome; both sexes affected; present from birth; appears that the GALC locus lies somewhere in the region 14q21-q31.

Ocular: Buphthalmos; conjunctival angiomas; choroidal angiomatosis; retinal aneurysm.

Clinical: Cerebral angiomas (possible calcium deposition); flat angioma of the skin in the distribution area of the trigeminal nerve (V) (nevus flammeus); mental deterioration due to progressive atrophy of the brain; contralateral hemiplegia; facial hemiatrophy.

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

Duke-Elder S, ed. System of Ophthalmology, vol. III, part 2. Baltimore: Williams & Wilkins, 1976: 1122.

Krabbe K. Facial and meningeal angiomatosis associated with calcification of the brain cortex: a clinical and anatopathologic contribution. Arch Neural Psychiatr 1934; 32:737.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th 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/.

Zlotogora J, et al. Krabbe disease locus mapped to chromosome 14 by genetic linkage. Am J Hum Genet 1990; 47: 37-44.