The clinical data of a case of Niemann-Pick disease type C diagnosed at Beijing Children′s Hospital, Capital Medical University, on December 22, 201,7 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.

Siyuan Guo has completed his MD at the age of 35 years from Capital Medical University, CHN. He is the associate chief physician at Beijing Children's Hospital. He specializes in diffuse alveolar hemorrhage and pediatric interstitial lung disease and has published several papers in these fields.