title: Sjögren-Larsson syndrome: sporadic case of the disease in a boy 8 years of age.
abstract: An autopsy case of Sjögren-Larsson syndrome (SLS), an 8-year-old boy, is presented with neuropathological investigations. Widespread deposition of 2 different types of unusual substances, stained lightly or strongly with periodic acid Schiff (PAS) was most conspicuous in this case. The first type of them, lightly stained with PAS at room temperature, was widely distributed in the central nervous system (CNS): the white matter of cerebrum and brainstem, subpial and subependymal glial layers, subpial space, perivascular space of small blood vessels, and their adjacent nervous tissue. The second type, strongly stained with PAS, small round or ellipsoid bodies, was found in the subpial, subependymal and perivascular glial layers. The first type of PAS-positive substances might be fatty alcohols or their metabolites, and the second type, some degraded products of lipids in astrocytic processes. Lipofuscin-like substances were accumulated in perivascular macrophages located around small blood vessels. Spheroid bodies (axonal swellings) were frequently observed in relay nuclei: lateral geniculate body (LGB), pontine nuclei, inferior olivary nuclei, posterior funicular nuclei, or cerebellar dentate nuclei. A lot of PAS-positive fine granules were contained in a spheroid body of LGB. Scarcity of myelinated nerve fibers was recognized in the cerebral and cerebellar white matter and the corticospinal tracts of spinal cord. Focal cortical dysgenesis, resembling that of unlayered polymicrogyria, was observed in bilateral insular cortices. Further histochemical studies are needed to explore the exact pathogenesis, but widespread deposition of PAS-positive substances in CNS may support the supposition that SLS is one of congenital errors of lipid metabolism.
authors.affiliation: Department of Pediatrics, National Higashisaitama Hospital, Hasuda, Saitama, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Yamaguchi
mesh_terms: D001933:Brain Stem / Q000473:pathology; D002490:Central Nervous System / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D002648:Child; D004027:Diencephalon / Q000473:pathology; D006801:Humans; D008297:Male; D008578:Meninges / Q000473:pathology; D010507:Periodicity; D016111:Sjogren-Larsson Syndrome / Q000473:pathology*