{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T17:35:21Z","timestamp":1782927321743,"version":"3.54.5"},"reference-count":14,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,8,30]]},"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:p>Tay-Sachs disease (TSD) is a type 1 gangliosidosis (GM2) and caused by hexosaminidase A deficiency resulting in abnormal sphingolipid metabolism and deposition of precursors in different organs. It is a progressive neurodegenerative disorder transmitted in an autosomal-recessive manner. There is an accumulation of GM2 in neurocytes and retinal ganglions which result in progressive loss of neurological function and formation of the cherry-red spot which is the hallmark of TSD. We report the first case of juvenile TSD from Pakistan in a child with death of an older sibling without the diagnosis.<\/jats:p>","DOI":"10.1136\/bcr-2019-230140","type":"journal-article","created":{"date-parts":[[2019,9,13]],"date-time":"2019-09-13T04:55:14Z","timestamp":1568350514000},"page":"e230140","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["Unusual case of Juvenile Tay-Sachs disease"],"prefix":"10.1136","volume":"12","author":[{"given":"Huma A","family":"Cheema","sequence":"first","affiliation":[{"name":"Department of Pediatric Medicine, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children\u2019s Hospital and Institute of Child Health, Lahore, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Waheed","sequence":"additional","affiliation":[{"name":"Department of Pediatric Medicine, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children\u2019s Hospital and Institute of Child Health, Lahore, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anjum","family":"Saeed","sequence":"additional","affiliation":[{"name":"Department of Pediatric Medicine, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children\u2019s Hospital and Institute of Child Health, Lahore, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2019,9,12]]},"reference":[{"key":"2025082709544806000_12.9.e230140.1","unstructured":"Kolodny EH . et al The GM2 gangliosidosis. In: Rosenberg RN , DiMauro S , Paulson HL , Ptacek L , Nestler EJ , . eds. The molecular and genetic basis of neurologic and psychiatirc disease. Philadelphia: Lippincott Williams & Wilkins, 2008:221\u20139."},{"key":"2025082709544806000_12.9.e230140.2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0588"},{"key":"2025082709544806000_12.9.e230140.3","doi-asserted-by":"crossref","first-page":"54","DOI":"10.4103\/0022-3859.39196","article-title":"Cherry-red spot","volume":"54","author":"Suvarna","year":"2008","journal-title":"J Postgrad Med"},{"key":"2025082709544806000_12.9.e230140.4","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.1136\/bjo.84.11.1318c","article-title":"Observations on time course changes of the cherry red spot in a patient with Tay-Sachs disease","volume":"84","author":"Nakaya-Onishi","year":"2000","journal-title":"Br J Ophthalmol"},{"key":"2025082709544806000_12.9.e230140.5","doi-asserted-by":"publisher","DOI":"10.1016\/S0008-4182(05)80054-7"},{"key":"2025082709544806000_12.9.e230140.6","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.pediatrneurol.2007.12.004","article-title":"Juvenile-onset G(M2)-gangliosidosis in an African-American child with nystagmus","volume":"38","author":"Paciorkowski","year":"2008","journal-title":"Pediatr Neurol"},{"key":"2025082709544806000_12.9.e230140.7","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1111\/ped.13848","article-title":"Early juvenile Tay-Sachs disease with atypical symptoms","volume":"61","author":"Sakurai","year":"2019","journal-title":"Pediatr Int"},{"key":"2025082709544806000_12.9.e230140.8","doi-asserted-by":"publisher","DOI":"10.1007\/BF03195237"},{"key":"2025082709544806000_12.9.e230140.9","doi-asserted-by":"publisher","DOI":"10.1128\/AEM.00463-07"},{"key":"2025082709544806000_12.9.e230140.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.chembiol.2006.12.006"},{"key":"2025082709544806000_12.9.e230140.11","first-page":"17","article-title":"Haematopoietic stem cell transplantation arrests the\u00a0progression of neurodegenerative disease in late-onset tay-sachs disease","volume":"41","author":"Stepien","year":"2018","journal-title":"JIMD Rep"},{"key":"2025082709544806000_12.9.e230140.12","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.3389\/fphys.2018.01663","article-title":"New approaches to tay-sachs disease therapy","volume":"9","author":"Solovyeva","year":"2018","journal-title":"Front Physiol"},{"key":"2025082709544806000_12.9.e230140.13","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1016\/j.ymgme.2011.09.013","article-title":"Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide","volume":"104","author":"Haghighi","year":"2011","journal-title":"Mol Genet Metab"},{"key":"2025082709544806000_12.9.e230140.14","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1007\/978-1-4939-8889-1_16","article-title":"Prenatal diagnosis of Tay-Sachs Disease","volume":"1885","author":"Zhang","year":"2019","journal-title":"Methods Mol Biol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2019-230140","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:54:55Z","timestamp":1756313695000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2019-230140"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":14,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2019,9,12]]},"published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1136\/bcr-2019-230140"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2019-230140","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,9]]}}}