{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:30:46Z","timestamp":1790681446507,"version":"4.1.0"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T00:00:00Z","timestamp":1641945600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T00:00:00Z","timestamp":1641945600000},"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\u2013Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and nerves. Niemann\u2013Pick disease is categorized into four groups: A, B, C, and D. Peripheral neuropathy is an extremely rare complication in patients with Niemann\u2013Pick type C, which certainly leads to neurologic deterioration.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We report a case of Niemann\u2013Pick type C disease in a 3-year-old Iranian Azeri female patient who was hospitalized twice. The first time was at 1\u00a0month of age with symptoms of splenomegaly, jaundice, and elevated liver enzymes, and the second time was at around age 2 for loss of mental and physical abilities. The patient presented with failure to thrive. According to paraclinical examinations, mildly delayed myelination along with a nonspecific periventricular hypersignal intensity was seen. Interestingly, the patient\u2019s Niemann\u2013Pick type C enzymatic function was evaluated twice and was negative on both occasions, while she was positive for <jats:italic>NPC1<\/jats:italic> and <jats:italic>NPC2<\/jats:italic> gene examinations.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>In this study, despite the enzymatic study being negative, Niemann\u2013Pick type C disease was finally confirmed, revealing the importance of mutations in Niemann\u2013Pick type C pathogenesis. Besides, peripheral neuropathy was diagnosed in this patient as a very rare symptom of Niemann\u2013Pick type C.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-021-03136-2","type":"journal-article","created":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T00:02:42Z","timestamp":1641945762000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Peripheral neuropathy as a very rare symptom in a patient with Niemann\u2013Pick type C with negative enzymatic evaluation: a case report"],"prefix":"10.1186","volume":"16","author":[{"given":"Mohammad","family":"Barzegar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Valaee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shadi","family":"Ghoreishizadeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,1,12]]},"reference":[{"key":"3136_CR1","doi-asserted-by":"publisher","first-page":"1717","DOI":"10.1016\/B978-0-444-59565-2.00041-1","volume":"113","author":"MT Vanier","year":"2013","unstructured":"Vanier MT. Niemann\u2013pick diseases. Handb Clin Neurol. 2013;113:1717\u201321.","journal-title":"Handb Clin Neurol"},{"key":"3136_CR2","doi-asserted-by":"publisher","first-page":"886","DOI":"10.1016\/j.braindev.2017.05.006","volume":"39","author":"M Usui","year":"2017","unstructured":"Usui M, Miyauchi A, Nakano Y, Nakamura S, Jimbo E, Itamura S, Adachi K, Nanba E, Narita A, Yamagata T. Miglustat therapy in a case of early-infantile Niemann-Pick type C. Brain Develop. 2017;39:886\u201390.","journal-title":"Brain Develop"},{"key":"3136_CR3","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1007\/s40265-013-0164-6","volume":"74","author":"KA Lyseng-Williamson","year":"2014","unstructured":"Lyseng-Williamson KA. Miglustat: a review of its use in Niemann-Pick disease type C. Drugs. 2014;74:61\u201374.","journal-title":"Drugs"},{"key":"3136_CR4","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1111\/j.1471-4159.2010.06976.x","volume":"116","author":"AI Rosenbaum","year":"2011","unstructured":"Rosenbaum AI, Maxfield FR. Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches. J Neurochem. 2011;116:789\u201395.","journal-title":"J Neurochem"},{"key":"3136_CR5","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1016\/j.jns.2014.12.005","volume":"348","author":"R Iodice","year":"2015","unstructured":"Iodice R, Dubbioso R, Topa A, Ruggiero L, Pisciotta C, Esposito M, Tozza S, Santoro L, Manganelli F. Electrophysiological characterization of adult-onset Niemann-Pick type C disease. J Neurol Sci. 2015;348:262\u20135.","journal-title":"J Neurol Sci"},{"key":"3136_CR6","doi-asserted-by":"publisher","first-page":"e82879","DOI":"10.1371\/journal.pone.0082879","volume":"8","author":"M Zech","year":"2013","unstructured":"Zech M, N\u00fcbling G, Castrop F, Jochim A, Schulte EC, Mollenhauer B, Lichtner P, Peters A, Gieger C, Marquardt T. Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders. PloS One. 2013;8:e82879.","journal-title":"PloS One"},{"key":"3136_CR7","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1097\/00005176-200207000-00011","volume":"35","author":"B Yerushalmi","year":"2002","unstructured":"Yerushalmi B, Sokol RJ, Narkewicz MR, Smith D, Ashmead JW, Wenger DA. Niemann-pick disease type C in neonatal cholestasis at a North American Center. J Pediatr Gastroenterol Nutr. 2002;35:44\u201350.","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"3136_CR8","doi-asserted-by":"publisher","first-page":"108","DOI":"10.3109\/15513815.2015.1130762","volume":"35","author":"G Gotti","year":"2016","unstructured":"Gotti G, Marseglia A, De Giacomo C, Iascone M, Sonzogni A, D\u2019Antiga L. Neonatal jaundice with splenomegaly: not a common pick. Fetal Pediatr Pathol. 2016;35:108\u201311.","journal-title":"Fetal Pediatr Pathol"},{"key":"3136_CR9","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1002\/ajmg.a.32642","volume":"149","author":"R Spiegel","year":"2009","unstructured":"Spiegel R, Raas-Rothschild A, Reish O, Regev M, Meiner V, Bargal R, Sury V, Meir K, Nadjari M, Hermann G. The clinical spectrum of fetal Niemann-Pick type C. Am J Med Genet A. 2009;149:446\u201350.","journal-title":"Am J Med Genet A"},{"key":"3136_CR10","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1016\/S1474-4422(07)70194-1","volume":"6","author":"MC Patterson","year":"2007","unstructured":"Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 2007;6:765\u201372.","journal-title":"Lancet Neurol"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-03136-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-021-03136-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-03136-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T00:03:25Z","timestamp":1641945805000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-021-03136-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,12]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["3136"],"URL":"https:\/\/doi.org\/10.1186\/s13256-021-03136-2","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,12]]},"assertion":[{"value":"31 August 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 September 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 January 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The ethics approval from the ethical committee of Tabriz University of Medical Sciences was obtained before the study began.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s legal guardian for publication of this case report and any accompanying images. 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":"None.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"23"}}