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Recognition and Relationship to Neurological Abnormalities in Cockayne's Syndrome

Roger A. Brumback, MD; Frank W. Yoder, MD; Alan D. Andrews, MD; Gary L. Peck, MD; Jay H. Robbins, MD

Arch Neurol. 1978;35(6):337-345.

Abstract
• Normal pressure hydrocephalus (NPH) in adults is a well-known cause of dementia. We describe NPH in children having the recessively inherited Cockayne's syndrome (CS). Cockayne's syndrome is characterized by cachectic dwarfism, neurological dysfunction, and cutaneous sunlight sensitivity. We noted that the NPH-associated triad of dementia, gait disturbance, and incontinence developed in CS patients. Computerized tomography of the brain in our four CS patients showed hydrocephalic enlargement of the brain ventricles greatest in the older patients. There was no evidence of cortical atrophy except in the one patient who had CS with xeroderma pigmentosum. Lumbar puncture and radionuclide cisternography in the two patients tested showed normal CSF pressure, with complete blockade to flow of radionuclide above the tentorium cerebelli, ventricular reflux, and delayed absorption. Studies of NPH in CS may elucidate the pathophysiology of NPH and methods to alter its sequelae.

Author Affiliations
From the Dermatology Branch (Drs Yoder, Andrews, Peck and Robbins), National Cancer Institute, and the Medical Neurology Branch (Dr Brumback), National Institute of Neurological and Communicative Disorders and Stroke, National Institutes of Health, Bethesda, Md.

Footnotes
Accepted for publication Aug 18, 1977.

Reprint requests to Bldg 10, Rm 12N258, National Institutes of Health, Bethesda, MD 20014 (Dr Robbins).

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