{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:45:17Z","timestamp":1753875917932,"version":"3.41.2"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T00:00:00Z","timestamp":1742774400000},"content-version":"vor","delay-in-days":23,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Mono-sialo-tetra-hexosylganglioside, also known as infantile GM1 gangliosidosis, is an autosomal recessive lysosomal storage disorder caused by a mutation in the GLB1 gene that stops the \u03b2-galactosidase enzyme from working. We have discussed a case of infantile GM1 gangliosidosis which presented with abnormal body movements, extensive dermal melanocytosis over back and gluteal region, coarse facial features, and macrocephaly. Radiological features included antero-inferior beaking of second, third, and fourth lumbar vertebrae, bilateral hyperdense thalami on non-contrast CT. On T2-weighted images, there is a persistently high signal intensity of the white matter and subcortical U fibres, which indicates bilateral bulky thalami with T2 hypointense and significantly impaired myelination. Reduced \u03b2-galactosidase activity verified the diagnosis.<\/jats:p>","DOI":"10.1093\/bjrcr\/uaaf009","type":"journal-article","created":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T04:04:34Z","timestamp":1743134674000},"source":"Crossref","is-referenced-by-count":0,"title":["Imaging manifestations in infantile GM1 gangliosidosis: a rare lysosomal storage disorder: a paediatric case report"],"prefix":"10.1093","volume":"11","author":[{"given":"Shreya","family":"Bhat","sequence":"first","affiliation":[{"name":"Department of Radiodiagnosis, NMCH Rohtas , Sasaram, Bihar 821305,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sachin","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis, NMCH Rohtas , Sasaram, Bihar 821305,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunil","family":"Bhat","sequence":"additional","affiliation":[{"name":"SL Diagnostic Center , Jammu 180012,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anjana","family":"Kaul","sequence":"additional","affiliation":[{"name":"Divine Healthcare , Jammu 180012,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,4,1]]},"reference":[{"key":"2025040200053198300_uaaf009-B1","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1126\/science.160.3831.1002","article-title":"Generalized gangliosidosis: beta-galactosidase deficiency","volume":"160","author":"Okada","year":"1968","journal-title":"Science"},{"key":"2025040200053198300_uaaf009-B2","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.3174\/ajnr.A1508","article-title":"MR imaging findings in 2 cases of late infantile GM1 gangliosidosis","volume":"30","author":"De Grandis","year":"2009","journal-title":"AJNR Am J Neuroradiol"},{"key":"2025040200053198300_uaaf009-B3","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.ymgme.2008.04.012","article-title":"GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects","volume":"94","author":"Brunetti-Pierri","year":"2008","journal-title":"Mol Genet Metab"},{"key":"2025040200053198300_uaaf009-B4","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ejpn.2006.08.005","article-title":"Neuroimaging findings in infantile GM1 gangliosidosis","volume":"10","author":"Erol","year":"2006","journal-title":"Eur J Paediatr Neurol"},{"key":"2025040200053198300_uaaf009-B5","doi-asserted-by":"publisher","first-page":"179","DOI":"10.4103\/1817-1745.106472","article-title":"GM1gangliosidosis: clinical and radiological clue to diagnosis","volume":"7","author":"Suthar","year":"2012","journal-title":"J Pediatr Neurosci"},{"key":"2025040200053198300_uaaf009-B6","doi-asserted-by":"crossref","DOI":"10.1007\/978-3-540-28785-8","volume-title":"Inborn Metabolic Diseases\u2014Diagnosis and Treatment","author":"Fernandes","year":"2006"},{"key":"2025040200053198300_uaaf009-B7","first-page":"405","article-title":"Gangliosidosis GM1. Clinical, radiologic, biochemical and histological studies in two cases","volume":"10","author":"Roche Herrero","year":"1977","journal-title":"An Esp Pediatr"},{"key":"2025040200053198300_uaaf009-B8","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1016\/0387-7604(94)90011-6","article-title":"Thalamic hyperdensity on CT in infantile GM1-gangliosidosis","volume":"16","author":"Kobayashi","year":"1994","journal-title":"Brain Dev"},{"key":"2025040200053198300_uaaf009-B9","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1001\/archderm.139.7.916","article-title":"Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis","volume":"139","author":"Hanson","year":"2003","journal-title":"Arch Dermatol"}],"container-title":["BJR|Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/bjrcr\/advance-article-pdf\/doi\/10.1093\/bjrcr\/uaaf009\/62574803\/uaaf009.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bjrcr\/article-pdf\/11\/2\/uaaf009\/62574803\/uaaf009.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bjrcr\/article-pdf\/11\/2\/uaaf009\/62574803\/uaaf009.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T00:07:29Z","timestamp":1743552449000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bjrcr\/article\/doi\/10.1093\/bjrcr\/uaaf009\/8092557"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,3,3]]}},"URL":"https:\/\/doi.org\/10.1093\/bjrcr\/uaaf009","relation":{},"ISSN":["2055-7159"],"issn-type":[{"type":"electronic","value":"2055-7159"}],"subject":[],"published-other":{"date-parts":[[2025,3]]},"published":{"date-parts":[[2025,3]]},"article-number":"uaaf009"}}