KUFS-DISEASE (ADULT TYPE NEURONAL CEROID-LIPOFUSCINOSIS) WITH AMYOTROPHY AND PROGRESSIVE DEMENTIA

A 26-year-old housewife, born of consanguineous parentage, began to have gait and speech disturbance Her brother had died from suffocation because of dysphagia. At thirty-two, she developed difficulty in swallowing, clumsiness and incontinence. When she was thirty-six she had pseudobulbar palsy, vertical gaze paresis, hyperreflexia and muscular atrophy of the upper half of the body. CT scan showed cerebral atrophy. Her mental function progressively deteriorated and amyotrophic lateral sclerosis associated with dementia was suspected. She died at the age of thirty-seven. Diagnosis was made only by autopsy. There was no particular general pathologic finding excepting aspiration pneumonia. Microscopical examination revealed numerous distended neurons with accumulation of light brown pigments by Luxol fast blue/H & E stains, especially in hypothalamus, substantia nigra and nuclei of oculomotor nerves. To a lesser extent such neurons were noted ubiquitously. The stored material was mainly composed of lipofuscin and ceroid. Ultrastructurally the by presented the various structures which have previously been reported, except for finger print profiles. The pigmentary deposits were shown to be immunoreactive with polyclonal antibody, directed against amyloid beta-protein.