{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:04:33Z","timestamp":1777802673038,"version":"3.51.4"},"reference-count":27,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[1999,2,1]],"date-time":"1999-02-01T00:00:00Z","timestamp":917827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[1999,2]]},"abstract":"<jats:p>\n                    A child of first-cousin Puerto Rican parents had global developmental delay, failure to thrive, and hypotonia since early infancy. At 1\u00bd years of age, she developed clinical and electrophysiologic evidence of progressive motor and sensory neuropathy At 2\u00bd years, she developed visual impairment and optic atrophy followed by gradual involvement of the 7th, 9th, 10th, and 12th cranial nerves. Uncontrollable myoclonic seizures began at 4 years and she died at 6 years of age. Motor nerve conduction velocities were initially normal and later became markedly slowed. Sensory distal latency responses were absent. Lysosomal enzyme activities in leukocytes and fibroblasts were normal. Sural nerve and two muscle biopsies showed only nondiagnostic abnormalities. Electron microscopy of lymphocytes, skin, and fibroblasts showed cytoplasmic inclusions. Light microscopy of frontal cortex biopsy showed neuronal storage material staining positively with Luxol fast blue, and electron microscopy showed cytoplasmic membranous bodies in neurons, suggesting an accumulation of a ganglioside. At autopsy, all organs were small but otherwise normal and without abnormal storage cells in the liver, spleen, or bone marrow. Anterior spinal nerve roots showed loss of large myelinated axons. The brain was small and atrophic; cortical neurons showed widespread accumulation of storage material, most marked in the pyramidal cell layer of the hippocampus. Subcortical white matter was gliotic with loss of axons and myelin sheaths. In cortical gray matter there was a 35% elevation of total gangliosides, with a 16-fold increase in G\n                    <jats:sub>M3<\/jats:sub>\n                    , a three- to four-fold increase in G\n                    <jats:sub>M2<\/jats:sub>\n                    gangliosides, and a 15-fold elevation of lactosyl ceramide. G\n                    <jats:sub>M3<\/jats:sub>\n                    sialidase activity was normal in gray matter at 3.1 nmols\/mg protein per hour and lactosyl ceraminidase I and II activities were 70% to 80% of normal. In white matter, total myelin was reduced by 50% but its composition was normal. Phospholipid distribution and sphingomyelin content were normal in gray matter, white matter, and in the liver. These biochemical findings were interpreted as nonspecific abnormalities. The nature of the neuronal storage substance remains to be determined. (J Child Neurol 1999;14:123-129).\n                  <\/jats:p>","DOI":"10.1177\/088307389901400211","type":"journal-article","created":{"date-parts":[[2008,1,24]],"date-time":"2008-01-24T19:24:33Z","timestamp":1201202673000},"page":"123-129","source":"Crossref","is-referenced-by-count":7,"title":["Clinical, Pathologic, and Neurochemical Studies of an Unusual Case of Neuronal Storage Disease With Lamellar Cytoplasmic Inclusions: A New Genetic Disorder?"],"prefix":"10.1177","volume":"14","author":[{"given":"Arthur L.","family":"Rose","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology, State University of New York-Health Science Center at Brooklyn, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter M.","family":"Farmer","sequence":"additional","affiliation":[{"name":"Department of Pathology, State University of New York-Health Science Center at Brooklyn, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nirmala","family":"Mitra","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology, State University of New York-Health Science Center at Brooklyn, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krystyna E.","family":"Wisniewski","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology, State University of New York-Health Science Center at Brooklyn, NY, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raju K.","family":"Pullarkat","sequence":"additional","affiliation":[{"name":"New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[1999,2,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1016\/0024-3205(64)90040-2"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1973.tb07527.x"},{"key":"atypb3","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1016\/0006-3002(57)90254-8","volume":"24","author":"Svennerholm L.","year":"1957","journal-title":"Biochem Biophys Acta"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1969.tb10361.x"},{"key":"atypb5","unstructured":"Nelson GJ: Quantitative analysis of blood lipids, in Nelson GJ (ed): Blood Lipids and Lipoproteins. 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