Familial occurrence of adult-type neuronal ceroid lipofuscinosis
M. Tobo, Y. Mitsuyama, K. Ikari and K. Itoi
The adult type of neuronal ceroid lipofuscinosis (NCL) occurred in a
49-year-old man and his 51-year-old sister. They showed episodic stuporous
and psychotic states, mental retardation, generalized convulsions, and
ichthyosis vulgaris. At autopsy the woman had excessive accumulation of
lipofuscin throughout the CNS. The degree of neuronal lipopigment
accumulation was very severe in the neurons of the thalamus, substantia
nigra, inferior olivary nuclei, motor nuclei of the brain stem, and
cerebral cortex. Mental symptoms, such as stupor, excitement,
hallucinations, and delusions, were the predominant clinical manifestations
and so were misdiagnosed as schizophrenia. Though the clinical diagnosis of
the adult type of NCL (Kufs' disease) is difficult because of its wide
variety of manifestations, symptoms such as episodic psychotic and
stuporous states accompanied by convulsive disorders with mild neurologic
signs may be an indication of this disease.
