Open access
Aug 2026
Infantile GM1 Gangliosidosis Presenting with Neuroregression and Leukodystrophy: A Case Report
A 20-month-old Malay girl with progressive neuroregression, macrocephaly, myoclonic jerks, hypotonia, bilateral cherry-red maculae, frontal prominence, narrow bifrontal diameter, short neck, epicanthic folds, flat nasal bridge, tented upper lips, downturned mouth, high-arched palate and widely spaced nipples is reporte...
Khairunnisa Mohd Ansari, N. A. A. Che Soh, Noor Hafidah Hamran et al.
· Malaysian Journal of Paediat... · 0 citations