{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T22:48:30Z","timestamp":1772750910910,"version":"3.50.1"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T00:00:00Z","timestamp":1658880000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T00:00:00Z","timestamp":1658880000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Niemann-Pick type A (NP-A) is a congenital, hereditary disease caused by a deficiency in acid sphingomyelinase, a lysosomal enzyme. This deficiency results in an accumulation of sphingomyelin in lysosomes, leading to cellular apoptosis and ultimately to hepatosplenomegaly, neurodegenerative disorder and failure to thrive. Cherry-red spots in the macula and foamy cells in the bone marrow are other manifestations of the disease that help with diagnosis. Type A is a rare, untreatable disease with early manifestations and a poor prognosis, with newborns rarely surviving for 2\u20133\u00a0years.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 1-year-old Persian boy was referred to our clinic due to abdominal distention and poor weight gain. He was the first male offspring of consanguineous parents. Other findings were neurodevelopmental delay, hepatosplenomegaly, severe hypotonia, difficulty in breathing, and a  slightly coarse face with an open mouth and protruding tongue. The initial diagnosis was clinical mucopolysaccharidosis (MPS) based on the coarse facial features, but further workup ruled out this inherited disorder. Enzyme histochemistry revealed that the level of acid sphingomyelinase was lower than normal. In the genetic study, next-generation sequencing of all coding exons and flanking intronic regions of the patient\u2019s DNA demonstrated a homozygous c.682T&gt;G variant in the SMPD1 gene. This variant was classified as a variant of unknown significance. Further evaluation of DNA extract from his parents and examined using Sanger sequencing showed a heterozygous c.682T&gt;G variant in the SMPD1 gene of both parents.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>We describe a 1-year-old boy with neurodevelopmental delay, hepatosplenomegaly, and severe hypotonia. Further investigation demonstrated a new mutation for Niemann-Pick disease.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-022-03486-5","type":"journal-article","created":{"date-parts":[[2022,7,28]],"date-time":"2022-07-28T15:22:13Z","timestamp":1659021733000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Niemann-Pick type A disease with new mutation:\u00a0a case report"],"prefix":"10.1186","volume":"16","author":[{"given":"Fatemeh","family":"Aghamahdi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7092-4239","authenticated-orcid":false,"given":"Matineh","family":"Nirouei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahram","family":"Savad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,7,27]]},"reference":[{"key":"3486_CR1","first-page":"1717","volume-title":"Handbook of clinical neurology","author":"MT Vanier","year":"2013","unstructured":"Vanier MT. Chapter 176\u2014Niemann-Pick diseases. In: Dulac O, Lassonde M, Sarnat HB, editors. Handbook of clinical neurology, vol. 113. Amsterdam: Elsevier; 2013. p. 1717\u201321."},{"issue":"2","key":"3486_CR2","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1212\/01.wnl.0000194208.08904.0c","volume":"66","author":"M McGovern","year":"2006","unstructured":"McGovern M, Aron A, Brodie S, Desnick R, Wasserstein M. Natural history of type A Niemann-Pick disease: possible endpoints for therapeutic trials. Neurology. 2006;66(2):228\u201332.","journal-title":"Neurology"},{"issue":"1","key":"3486_CR3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-017-0572-x","volume":"12","author":"MM McGovern","year":"2017","unstructured":"McGovern MM, Avetisyan R, Sanson B-J, Lidove O. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD). Orphanet J Rare Dis. 2017;12(1):1\u201313.","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"3486_CR4","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1016\/j.aohep.2018.12.004","volume":"18","author":"M Cer\u00f3n-Rodr\u00edguez","year":"2019","unstructured":"Cer\u00f3n-Rodr\u00edguez M, V\u00e1zquez-Mart\u00ednez ER, Garc\u00eda-Delgado C, Ortega-V\u00e1zquez A, Valencia-Mayoral P, Ram\u00edrez-Devars L, et al. Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population. Ann Hepatol. 2019;18(4):613\u20139.","journal-title":"Ann Hepatol"},{"issue":"2","key":"3486_CR5","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-3016","volume":"122","author":"MM McGovern","year":"2008","unstructured":"McGovern MM, Wasserstein MP, Giugliani R, Bembi B, Vanier MT, Mengel E, et al. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. 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Short communication impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings. Genet Mol Res. 2016;15(1):1\u20137.","journal-title":"Genet Mol Res"},{"issue":"1","key":"3486_CR9","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1159\/000440865","volume":"83","author":"A Dandana","year":"2016","unstructured":"Dandana A, Khelifa SB, Chahed H, Miled A, Ferchichi S. Gaucher disease: clinical, biological and therapeutic aspects. Pathobiology. 2016;83(1):13\u201323.","journal-title":"Pathobiology"},{"issue":"1","key":"3486_CR10","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.ymgme.2016.12.008","volume":"120","author":"EH Schuchman","year":"2017","unstructured":"Schuchman EH, Desnick RJ. Types A and B Niemann-Pick disease. 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A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"288"}}