Polyunsaturated fatty acid lipidosis infantile form of so-called neuronal ceroidlipofuscinosis.

Abstract

ABSTRACT. Hagberg, B., Haltia, M., Sourander, P., Svennerholm, L. and Eeg‐Olofsson, O. (Departments of Paediatrics II, Pathology I and Neurochemistry, University of Gothenburg, Sweden, and Pathology II, University of Helsinki, Finland). Poly‐unsaturated fatty acid lipidosb—an infantile form of so‐called neuronal ceroidlipo‐fuscinosis. Acta Paediatr Scand, 63:753, 1974.—Clinical, histological and ultrastructural findings in three children of Finnish origin and with a severe progressive encephalopathy are reported. The main symptoms were rapid developmental regression from about one year of age, loss of speech, severe visual failure and pronounced secondary microcephaly. A decerebrated state was reached within 1–3 years. Laboratory tests revealed a successively decreasing CSF τ‐fraction. The fatty acid composition of Serum lecithin showed an increased amount of arachidonic acid in the early stage of the disease, a pattern consistent with the biochemical changes in the brain.The morphological characteristics consisted of extreme cerebral and cerebellar atrophy, massive neuronal destruction associated with a pronounced macrophage and astrocytic reaction, and strongly PAS‐reacting and autofluorescent granular deposits in the cytoplasm of the remaining cells. Electron microscopy revealed cytoplasmic osmiophilic deposits in the form of aggregates of globules with a uniform and finely granular ultra‐structure.The condition was considered to be a nosological entity with a uniform clinical picture and characteristic ultrastructural changes in the brain. The evidence produced suggests that the disease described is identical with a progressive heredodegenerative disorder, known to have been diagnosed during recent years in more than 50 Finnish infants and small children and earlier described under the name of infantile type of so‐called neuronal ceroidlipifuscinosis.