Case report of a novel variant in SMPD1 of Niemann-Pick disease type A with a liver histology from Thailand
3
Issued Date
2024-03-01
Resource Type
eISSN
26670097
Scopus ID
2-s2.0-85198972665
Journal Title
Global Pediatrics
Volume
7
Rights Holder(s)
SCOPUS
Bibliographic Citation
Global Pediatrics Vol.7 (2024)
Suggested Citation
Ngoenmak T., Somran J., Foonoi M., Srisingh K., Singpan N., Tim-Aroon T. Case report of a novel variant in SMPD1 of Niemann-Pick disease type A with a liver histology from Thailand. Global Pediatrics Vol.7 (2024). doi:10.1016/j.gpeds.2023.100096 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/101590
Title
Case report of a novel variant in SMPD1 of Niemann-Pick disease type A with a liver histology from Thailand
Corresponding Author(s)
Other Contributor(s)
Abstract
We report a 7-month-old Thai girl diagnosed with a Niemann-Pick Disease (NPD) Type A. Hepatosplenomegaly was initially noticed at the age of 2 months. She developed progressive neurodevelopmental delay at 5 months. Other typical manifestations include coarse facies, cherry red spot of macula, hypotonia, and failure to thrive. A liver biopsy demonstrated an accumulation of enlarged histiocytes with foamy appearance in hepatic sinusoids. An acid sphingomyelinase activity from dried blood spot showed low activity. A novel c.1241T>C variant in SMPD1 was identified. The patient died at 4 years of age due to neurological decline and respiratory failure. Even in type A, onset of systemic symptoms occurs before neurodevelopmental delay. NPD type A is exceptionally rare in Thailand. Infantile neurovisceral ASMD prognosis is poor, often fatal by age 3. No specific NPD type A treatment exists; supportive care is offered. Therefore, the case reveals a novel SMPD1 variant in typical NPD type A symptoms. Early progressive neurodevelopmental delay challenges treatment study.