NH may arise from non-GALD etiologies, including perinatal infection, trisomy 21, mitochondrial DNA depletion due to deoxyguanosine kinase deficiency (DGUOK gene mutations), bile acid synthetic defect (SRD5B1 mutations), GRACILE syndrome (BCS1L mutation), myofibromatosis, tricho-hepato-enteric syndrome, and Martinez–Frias syndrome (2). Here, BCS1L is linked to infantile myofibromatosis.