This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citing articles on HighWire  • Citing articles on Web of Science (15)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Haruo Matsuyama, MD; Itaru Watanabe, MD; Martin C. Mihm, MD; Edward P. Richardson, Jr, MD

Arch Neurol. 1978;35(6):329-336.

Abstract
• 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.

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.

Footnotes
Accepted for publication Oct 10, 1977.

Reprint requests to Neuropathology Laboratory, Massachusetts General Hospital, Boston, MA 02114 (Dr Richardson).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Autosomal dominant subcortical gliosis presenting as frontotemporal dementia
Swerdlow et al.
Neurology 2009;72:260-267.
ABSTRACT | FULL TEXT  

Hereditary diffuse leucoencephalopathy with spheroids
Hancock et al.
J. Neurol. Neurosurg. Psychiatry 2003;74:1345-1347.
ABSTRACT | FULL TEXT  

Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids
van der Knaap et al.
Neurology 2000;54:463-463.
ABSTRACT | FULL TEXT