Pediatrics international : official journal of the Japan Pediatric Society · 2024
Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
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Yoldas Celik Merve, Yazici Havva, Erdem Fehime, Yuksel Yanbolu Ayse, Canda Ebru, Sezer Ebru, Kalkan Ucar Sema, Onay Huseyin, Ozkinay Ferda, Yildirim Sozmen Eser, Coker Mahmut
Аннотация
BACKGROUND: Niemann-Pick 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.
METHODS: The clinical and laboratory findings were reviewed retrospectively between February 2006 and December 2022.
RESULTS: There were nine females and five males. The median age of diagnosis of the patients was 5 months (range: 1 month to 38 years). The clinical phenotypes of the patients were early infantile (n = 7), late infantile (n = 4), juvenile (n = 2), and adult (n = 1). 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-onset 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 years (with a range from 1-13 years). Miglustat's adverse effects were low platelet count (35.7%) and diarrhea (7.1%).
CONCLUSIONS: Niemann-Pick 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.
METHODS: The clinical and laboratory findings were reviewed retrospectively between February 2006 and December 2022.
RESULTS: There were nine females and five males. The median age of diagnosis of the patients was 5 months (range: 1 month to 38 years). The clinical phenotypes of the patients were early infantile (n = 7), late infantile (n = 4), juvenile (n = 2), and adult (n = 1). 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-onset 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 years (with a range from 1-13 years). Miglustat's adverse effects were low platelet count (35.7%) and diarrhea (7.1%).
CONCLUSIONS: Niemann-Pick 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.