{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T04:24:52Z","timestamp":1791865492212,"version":"4.3.4"},"reference-count":41,"publisher":"SAGE Publications","issue":"1_suppl","license":[{"start":{"date-parts":[[1992,4,1]],"date-time":"1992-04-01T00:00:00Z","timestamp":702086400000},"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":[[1992,4]]},"abstract":"<jats:p>A sister and brother, now aged 7 and 9 years, presented with developmental arrest, gait disturbance, dementia, and a progressive myoclonic epilepsy syndrome with hyperacusis in the second year of life. Then, spastic quadriparesis led to a decerebrate state. In the absence of macular or retinal degeneration, organomegaly, and somatic-facial features suggesting mucopolysaccharidosis, the presence of hyperacusis together with sea-blue histiocytes in bone marrow biopsies and deficient \u03b2-galactosidase activity but normal glucosidase, hexosaminidase, and neuraminidase activity on lysosomal enzyme assays constitutes the clinical-pathologic-biochemical profile of GM1 gangliosidosis type 2. This is a rare, late infantile onset, progressive gray-matter disease in which \u03b2-galactosidase deficiency is largely localized to the brain, though it can be demonstrated in leukocytes and cultured skin fibroblasts. It must be distinguished from the Jansky-Bielschowsky presentation of neuronal ceroid lipofuscinosis, mitochondrial encephalopathy, lactic acidosis, strokelike episodes (MELAS) and myoclonic epilepsy with ragged-red fibers (MERRF) syndromes, atypical presentations of GM2 gangliosidoses (Tay-Sachs and Sandhoff's diseases), primary sialidosis (neuraminidase deficiency), galactosialidosis, and Alpers' disease. (J Child Neurol 1992;7(Suppl):S41-S50.)<\/jats:p>","DOI":"10.1177\/08830738920070010711","type":"journal-article","created":{"date-parts":[[2009,9,15]],"date-time":"2009-09-15T15:05:50Z","timestamp":1253027150000},"page":"S41-S50","source":"Crossref","is-referenced-by-count":26,"title":["G M1 Gangliosidosis Type 2 in Two Siblings"],"prefix":"10.1177","volume":"7","author":[{"given":"Generoso G.","family":"Gascon","sequence":"first","affiliation":[{"name":"Department of Pediatrics, King Faisal Specialist Hospital\rand Research Centre, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pinar T.","family":"Ozand","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, King Faisal Specialist Hospital\rand Research Centre, Riyadh, Saudi Arabia, Department of Biological and Medical Research, King\rFaisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert E.","family":"Erwin","sequence":"additional","affiliation":[{"name":"Department of Biological and Medical Research, King\rFaisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[1992,4,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1700780208"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1965.02090020340014"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1126\/science.160.3831.1002"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1974.00490390082010"},{"key":"atypb5","first-page":"1319","volume":"2","year":"1974","journal-title":"Lancet"},{"key":"atypb6","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1111\/j.1399-0004.1980.tb00158.x","volume":"17","year":"1980","journal-title":"Clin Genet"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.18.4.340"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.20.1.23"},{"key":"atypb9","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1111\/j.1399-0004.1972.tb01476.x","volume":"3","year":"1972","journal-title":"Clin Genet"},{"key":"atypb10","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1542\/peds.52.4.521","volume":"52","year":"1973","journal-title":"Pediatrics"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1007\/BF00685440"},{"key":"atypb12","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1111\/j.1399-0004.1978.tb01185.x","volume":"13","year":"1978","journal-title":"Clin Genet"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.6.719"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(82)80009-0"},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(69)14046-X"},{"key":"atypb16","first-page":"255","volume":"14","year":"1969","journal-title":"Methods Enzymol"},{"key":"atypb17","first-page":"272","volume":"114","year":"1969","journal-title":"Methods Enzymol"},{"key":"atypb18","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(69)90124-3"},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800209"},{"key":"atypb20","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2760(85)90161-4"},{"key":"atypb21","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(86)90177-4"},{"key":"atypb22","doi-asserted-by":"publisher","DOI":"10.1177\/088307389100600302"},{"key":"atypb23","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.10.1561"},{"key":"atypb24","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/90.2.241"},{"key":"atypb25","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/108.1.225"},{"key":"atypb26","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1052386"},{"key":"atypb27","doi-asserted-by":"publisher","DOI":"10.1097\/00004691-199007000-00005"},{"key":"atypb28","volume-title":"Epileptic Syndromes in Infancy, Childhood and Adolescence","year":"1985"},{"key":"atypb29","unstructured":"Electro-Clinical Syndromes in Infancy. 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