Infantile tremor syndrome: a case series from the tertiary care center of Nepal.

Infantile tremor syndrome (ITS) is a pediatric disorder characterized by tremors, developmental regression, pallor, and hyperpigmentation, which is frequently associated with vitamin B12 deficiencies. Despite being recognized for decades, it remains underdiagnosed and lacks standardized management guidelines. We describe a case series of children with clinical characteristics suggestive of ITS. All children included in this study were from strictly vegetarian families and exhibited tremors, pallor, and characteristic skin changes. Four of them were diagnosed with ITS after recovering from their illnesses while in the pediatric intensive care unit (PICU). Investigations found that all cases were vitamin B12 deficient. Three of our cases had cortical atrophy on neuroimaging., with two patients requiring blood transfusions despite the prevalence of neurological symptoms. Biochemical tests confirmed vitamin B12 deficiency. All infants were treated with dietary changes, multivitamin and mineral supplements, and vitamin B12 therapy. Significant clinical improvement was observed following the intervention. This case series highlights the variable dermatological, hematological, and neurological presentations of ITS, emphasizing the importance of early recognition and treatment, including maternal therapy.