Normal pressure hydrocephalus. Recognition and relationship to neurological abnormalities in Cockayne's syndrome
R. A. Brumback, F. W. Yoder, A. D. Andrews, G. L. Peck and J. H. Robbins
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.
