1. Case report of a novel variant in SMPD1 of Niemann-Pick disease type A with a liver histology from Thailand
- Author
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Thitima Ngoenmak, Julintorn Somran, Montana Foonoi, Klaita Srisingh, Nun Singpan, and Thipwimol Tim-Aroon
- Subjects
Niemann-Pick disease ,NPD type A ,Acid sphingomyelinase deficiency ,Hepatosplenomegaly ,Cherry-red spots ,Pediatrics ,RJ1-570 - 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.
- Published
- 2024
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