{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:01:13Z","timestamp":1791277273351,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2010,9,30]],"date-time":"2010-09-30T00:00:00Z","timestamp":1285804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Niemann\u2010Pick disease type C (NPC) is a model for inborn errors of metabolism whose gene product mediates molecular trafficking rather than catabolizing macromolecules, as in classic lipidoses. We report the case of an infant who presented with hepatosplenomegaly without neurological abnormalities. Decreased activity of acid \u03b2\u2010glucosidase and elevated serum chitotriosidase and tartrate\u2010resistant acid phosphatase on repeated measurements led to initial diagnosis of Gaucher disease (GD). Failure to respond to enzyme replacement therapy after one year, however, put the diagnosis in question. Cholesterol esterification assays in cultured skin fibroblasts and NPC gene analysis led to the correct diagnosis of NPC. The patient had markedly reduced cholesterol esterification and was a compound heterozygote for a known and a novel mutation in the NPC gene (395delC and 2068insTCCC), which are both predicted to lead to protein truncation. Although the full phenotype of NPC involves hepatosplenomegaly and neurodegenerative disease, the initial presentation in a pediatric patient may be restricted to visceral disease. Of interest, this patient had decreased activity of leukocyte acid \u03b2\u2010glucosidase activity and elevated serum chitotriosidase to levels often seen in GD. Although acid \u03b2\u2010glucosidase activity in leukocytes was low, it was in the normal range in skin fibroblasts. Therefore, diagnostic delay may occur in NPC due to false positive testing for GD. Diagnosis of NPC requires a high index of suspicion and should be considered in a patient with hepatosplenomegaly even in the absence of neurodevelopmental signs. Prompt diagnosis will become increasingly important as effective therapies are developed for NPC.<\/jats:p>","DOI":"10.1007\/s10545-010-9214-3","type":"journal-article","created":{"date-parts":[[2010,9,29]],"date-time":"2010-09-29T09:06:29Z","timestamp":1285751189000},"page":"429-433","source":"Crossref","is-referenced-by-count":16,"title":["Misdiagnosis of Niemann\u2010Pick disease type C as Gaucher disease"],"prefix":"10.1002","volume":"33","author":[{"given":"Sarah M.","family":"Lo","sequence":"first","affiliation":[{"name":"Department of Pediatrics Yale University School of Medicine New Haven CT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"McNamara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Yale University School of Medicine New Haven CT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita R.","family":"Seashore","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Yale University School of Medicine New Haven CT USA"},{"name":"Department of Genetics Yale University School of Medicine New Haven CT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pramod K.","family":"Mistry","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Yale University School of Medicine New Haven CT USA"},{"name":"Department of Medicine Yale University School of Medicine New Haven CT USA"},{"name":"Pediatric Gastroenterology and Hepatology Yale University School of Medicine P.O. Box 208064 333 Cedar Street New Haven CT 06520\u20108064 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,9,30]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0272-5"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(70)91646-6"},{"key":"e_1_2_5_4_1","unstructured":"European Medicines Association (EMEA)(2009)Miglustat summary of product characteristics Available at: <http:\/\/www.emea.europa.eu\/humandocs\/PDFs\/EPAR\/zavesca\/H\u2010435\u2010PI\u2010en.pdf> Last accessed 15th May 2009"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61522-6"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02436762"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1515\/BC.2008.163"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.03.049"},{"key":"e_1_2_5_9_1","doi-asserted-by":"crossref","unstructured":"Lloyd\u2010EvansE PlattFM(2010)Lipids on trial: the search for the offending metabolite in Niemann\u2010Pick type C disease.Traffic. 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