Case report of a novel variant in SMPD1 of Niemann-Pick disease type A with a liver histology from Thailand

• Main Authors: Thitima Ngoenmak (Author), Julintorn Somran (Author), Montana Foonoi (Author), Klaita Srisingh (Author), Nun Singpan (Author), Thipwimol Tim-Aroon (Author)
• Format: Book
• Published: Elsevier, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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, hypoto...