{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T11:18:23Z","timestamp":1777288703614,"version":"3.51.4"},"reference-count":47,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T00:00:00Z","timestamp":1734480000000},"content-version":"vor","delay-in-days":352,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Niemann\u2013Pick type C (NPC) disease is a lysosomal storage disease with visceral organ involvement and neurological and psychiatric symptoms. This study presents the clinical and laboratory findings of NPC cases involving three novel variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The clinical and laboratory findings were reviewed retrospectively between February 2006 and December 2022.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      There were nine females and five males. The median age of diagnosis of the patients was 5\u2009months (range: 1\u2009month to 38\u2009years). The clinical phenotypes of the patients were early infantile (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20097), late infantile (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20094), juvenile (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20092), and adult (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20091). The visceral findings were splenomegaly (100%), hepatomegaly (78.6%), neonatal jaundice (42.8%), and hepatic failure (14.3%). The neurological findings were developmental delay (71.4%), seizures (50%), vertical supranuclear gaze palsy (28.6%), ataxia (28.6%), dysarthria (28.6%), dysphagia (21.4%), dystonia (21.4%). Cataplexy (14.3%) and psychiatric manifestations (14.3%) were recorded in juvenile and adult\u2010onset patients. Three novel variants were detected (p.Asn524LysfsTer39, p.Val1023Phe, and p.Asn906Tyr). Miglustat treatment was received by 64.3% of patients but had no clear effect on the disease course. The median duration of use was 3\u2009years (with a range from 1\u201313\u2009years). Miglustat's adverse effects were low platelet count (35.7%) and diarrhea (7.1%).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Niemann\u2013Pick type C disease should be considered in the presence of visceral organ involvement and progressive neurological findings. It is essential to support the diagnosis with laboratory and genetic analysis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ped.15832","type":"journal-article","created":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T02:59:57Z","timestamp":1734577197000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Splenomegaly and progressive neurologic involvement: Think about Niemann\u2013Pick type C disease"],"prefix":"10.1111","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0015-9807","authenticated-orcid":false,"given":"Merve","family":"Yoldas Celik","sequence":"first","affiliation":[{"name":"Medical Faculty, Department of Pediatric Metabolism and Nutrition Ege University  Izmir T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Havva","family":"Yazici","sequence":"additional","affiliation":[{"name":"Medical Faculty, Department of Pediatric Metabolism and 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