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October 1995

Pathological Case of the Month

Author Affiliations

From the Department of Pathology, Lutheran General Hospital, Park Ridge, Ill (Drs Rueca and Taxy), and the Section of Neuropathology, The University of Chicago (Ill) (Dr Wollmann).

Arch Pediatr Adolesc Med. 1995;149(10):1173-1174. doi:10.1001/archpedi.1995.02170230127021

A MALE INFANT was born at term following an uncomplicated pregnancy and delivery. His growth and developmental milestones were normal up to the age of 3 months, after which he gradually regressed. At the age of 6 months, he presented with excessive irritability, hypotonia, and failure to thrive that required hospitalization. An electroencephalogram revealed mild slowing, but no epileptiform abnormality. A sample of skin fibroblasts was obtained for enzymatic analysis. Motor activity progressively deteriorated, and he died at the age of 10 months. A gross section of the brain (Figure 1), a light microscopic section (Figure 2), and an electron microscopic section (Figure 3) are shown.

Diagnosis and Discussion  Globoid Cell Leukodystrophy (Krabbe's Disease)In his report published in 1916 on acute infantile familial diffuse sclerosis of the brain, Krabbe1 gave the first complete description of this relatively uncommon leukodystrophy. Collier and Greenfield2 in 1924 named the characteristic large

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