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Krabbe Disease: Severe Neonatal Presentation With a Family History of Multiple Sclerosis

Division of Genetics and Metabolism Harvard Medical School and Children's Hospital, Boston, MA

Hagit Baris, MD

Division of Genetics and Metabolism Harvard Medical School and Children's Hospital, Boston, MA

Virginia Kimonis, MD, MRCP

Division of Genetics and Metabolism Harvard Medical School and Children's Hospital, Boston, MA

Harvey L. Levy, MD

Division of Genetics and Metabolism Harvard Medical School and Children's Hospital, Boston, MA

Krabbe disease, also known as globoid cell leukodystrophy, is a rare autosomal recessive disorder caused by a deficiency of a lysosomal enzyme, galactocerebrosidase. This defect prevents normal turnover of the galactolipids and results in progressive demyelination. In the infantile form, symptoms typically present at 3 to 6 months of age with subsequent neurologic deterioration. We report a case with presentation on day 7 of life and rapid progression culminating in death at 10 weeks. Galactocerebrosidase activity was absent in the leukocytes, and a 30 kb deletion in the GALC gene was found. To our knowledge, this is the earliest reported death from Krabbe disease. Several family members have multiple sclerosis, which is also a demyelinating disorder. We propose that the neonatal expression could be an example of complementary gene interaction in which coinheritance of a predisposition to multiple sclerosis led to the unusual early manifestation and rapid course of Krabbe disease in this infant. (J Child Neurol 2005;20:826—828).

Journal of Child Neurology, Vol. 20, No. 10, 826-828 (2005)
DOI: 10.1177/08830738050200100901


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