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The Storage of Cholestanol Within the Nervous System

John H. Menkes, MD; James R. Schimschock, MD; Phillip D. Swanson, MD

Arch Neurol. 1968;19(1):47-53.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

CERBROTENDINOUS xanthomatosis is a rare, but well-defined familial disease, first described by van Bogaert and associates.¹ It is characterized by xanthomas of tendons and lungs, cataracts, slowly progressive cerebellar ataxia, and dementia. On pathological examination the brainstem and cerebellum are found to be the two most affected areas within the nervous system. Here myelin destruction, a variable degree of gliosis, and xanthoma cells are visible. Massive deposits of cholesterol crystals are observed in white matter, suggesting a derangement in cholesterol metabolism.

The condition is distinct from other xanthomatoses with cerebral involvement. In histiocytosis X (Hand-Schuller-Christian disease) the brain may participate the xanthomatous changes occurring in the other viscera, but in this condition the xanthomatous transformation is probably secondary to a granulomatous process. Feigin² also described cerebral xanthomatosis associated with widespread demyelination, but unaccompanied by visceral xanthomata. Demyelination was the outcome of various exogenous insults to the central . . . [Full Text PDF of this Article]

Author Affiliations
Los Angeles; Seattle

From the University of Washington School of Medicine, Seattle.

Footnotes
Submitted for publication Jan 18, 1968; accepted Feb 17.

Reprint requests to Division of Pediatric Neurology, UCLA School of Medicine, Los Angeles 90024 (Dr. Menkes).

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