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June 1978

Dermatoleukodystrophy With Neuroaxonal Spheroids

Author Affiliations

From the Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neurosciences, and the Department of Pathology, Keio University School of Medicine, Toyko (Dr Matsuyama); the Veterans Administration Hospital, Kansas City, Mo, and the Department of Pathology, University of Kansas Medical Center, Kansas City (Dr Watanabe); and the Pathology (Dr Mihm) and Neuropathology (Dr Richardson) Laboratories, Massachusetts General Hospital, and the Departments of Pathology and Neurology-Neuropathology, Harvard Medical School, Boston.

Arch Neurol. 1978;35(6):329-336. doi:10.1001/archneur.1978.00500300003001

• A Japanese brother and sister, the progeny of healthy parents, were born with thickened, wrinkled skin and died between the ages of 2 and 3 years with a progressive cerebral disease characterized by generalized mental and motor impairment. Postmortem neuropathological studies disclosed a remarkable leukodystrophy in which multiple axonal spheroids were the outstanding feature. Ultrastructurally, the spheroids contained granules resembling ceroid-lipofuscin bodies. Similar granules were found in degenerating oligodendrocytes and in Schwann cells. The skin showed hypercellular and sclerotic features, suggestive of a genodermatosis. This combined neurologic and dermatologic syndrome, which, to our knowledge, has not hitherto been recognized, may well result from a genetically determined metabolic disorder, the nature of which still remains undisclosed.