CLINICAL, MORPHOLOGICAL, AND BIOCHEMICAL INVESTIGATIONS ON A PATIENT WITH AN UNUSUAL FORM OF NEURONAL CEROID-LIPOFUSCINOSIS

A patient with a progressive neurological disorder beginning at the age of 3 yr is described. Mental and visual disturbances were the 1st signs, soon followed by ataxia and myoclonic jerks. Fundoscopy revealed a decreased pigmentation of the retina. Ultramicroscopic investigations of muscle and skin disclosed the typical changes seen in the late infantile and juvenile forms of neuronal ceroid-lipofuscinosis. In contrast to the clinical and ultrastructural findings, the fatty acid pattern of the serum lecithin showed a significant increase of arachidonic acid and a corresponding decrease of linoleic acid which is characteristic of the so-called infantile form of neuronal ceroid-lipofuscinosis (Hagberg-Santavuori variant: polyunsaturated fatty acid lipidosis). The obvious heterogeneity of the clinical, histological and laboratory findings within the subgroups of neuronal ceroid-lipofuscinosis is briefly discussed.