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 three years is described. Mental and visual disturbances were the first 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.
D001259:Ataxia / Q000473:pathology; D002566:Ceroid / Q000378:metabolism*; D002648:Child; D005260:Female; D006801:Humans; D008062:Lipofuscin / Q000378:metabolism*; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D008854:Microscopy, Electron; D009132:Muscles / Q000648:ultrastructure; D009207:Myoclonus / Q000473:pathology; D010860:Pigments, Biological / Q000378:metabolism*; D012867:Skin / Q000648:ultrastructure; D014786:Vision Disorders / Q000473:pathology
D002566:Ceroid; D008062:Lipofuscin; D010860:Pigments, Biological