Melissa Song Ting Wong, Terrence Thomas, Jiin Ying Lim, Sylvia Kam, Jing Xian Teo, Jianhong Ching, Chew Yin Jasmine Goh, Saumya Shekhar Jamuar, Weng Khong Lim, Ai Ling Koh
BACKGROUND: Leukodystrophies are a heterogeneous group of disorders affecting the white matter of the central nervous system, with or without affecting the peripheral nervous system. Biallelic variants in DEGS1, coding for desaturase 1 (Des1) protein, were recently reported to be associated with hypomyelinating leukodystrophy (HLD), a subclass of leukodystrophies where the formation of the myelin sheath is affected. METHODS: Genomic sequencing was performed on our index patient with severe developmental delay, severe failure to thrive, dystonia, seizures, and hypomyelination on brain imaging...
May 1, 2023: Clinical Dysmorphology