Case report on Niemann-Pick disease type C with diffuse interstitial lung disease as the initial manifestation due to NPC1 gene mutation
10.3760/cma.j.cn101070-20240331-00190
- VernacularTitle:NPC1突变致以弥漫肺间质改变为首发表现的尼曼匹克病C型1例
- Author:
Siyuan GUO
1
;
Jun LIU
;
Jianxin HE
;
Baoping XU
Author Information
1. 首都医科大学附属北京儿童医院呼吸中心，北京 100045
- Keywords:
Niemann-Pick disease;
Impaired cholesterol trafficking;
Interstitial lung disease;
Miglustat
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(12):940-942
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of a case of Niemann-Pick disease type C diagnosed at Beijing Children′s Hospital, Capital Medical University on December 22, 2017 were retrospectively analyzed.The patient, male, 1 year and 28 days old, was admitted to the hospital primarily due to intermittent fever, cough and dyspnea for 8 months, and hepatosplenomegaly for 20 days.The patient initially presented with cough, expectoration, and wheezing, followed by hypotonia and delayed motor development.At the age of 1 year, the child developed hepatosplenomegaly and diffuse interstitial changes in both lungs.At the age of 3 years, the child had obvious vertical supranuclear gaze palsy and gelastic cataplexy, followed by dysarthria and dysphagia.The foam cells were found by bone marrow cytology, while sphingomyelinase and glucocerebrosidase were normal, so Niemann-Pick disease type A/B and Gaucher disease were excluded.Finally, genetic testing revealed two pathogenic mutations in the NPC1 gene, so Niemann-Pick disease type C was confirmed.Miglustat treatment began when the child was 3 years old, and vertical supranuclear gaze palsy and gelastic cataplexy improved for a while, but then the neurological symptoms worsened again, with dysphagia and dyspnea gradually increasing, and finally he died at the age of 4 years and 11 months.
