SUMMARY
Objective: The objective of this study was to assess the clinical profile of infantile tremor syndrome (ITS) and to correlate serum Vitamin B12 level with ITS. Materials and Methods: This prospective study was done in the Department of Pediatrics of a Medical College of Kota. A total of 40 children, presenting with clinical features of ITS, were included in the study. A detailed history was taken. Investigations including complete blood count with blood indices (mean corpuscular volume, mean corpuscular hemoglobin [MCH], and MCH concentration), peripheral smear, and serum Vitamin B12 level were done in accordance with the WHO guidelines. Vitamin B12 deficiency was defined as serum Vitamin B12 concentration <150 pmol/L or 203 pg/mL. Results: All patients with ITS had pallor (100%) and skin hyperpigmentation (100%). Psychomotor changes in the form of apathy and/or developmental regression/stasis were found in 40 (100%) cases. Regression of developmental milestones was found in 26 (65%) and 10 (25%) patients had stasis of milestones. Tremor was present in 14 (35%) cases. Hepatomegaly was present in the majority 25 (62.5%) of these children, whereas splenomegaly was present in only 8 (20%) patients. Hypopigmented hair was found in only 12 (30%) cases. Twenty-five (62.5%) children were exclusively breastfed (p<0.05). Of the 40 cases, 26 (65%) presented in prodromal phase and 14 (35%) presented in the tremor phase. Among 26 patients of prodromal phase, 22 (84.62%) had Vitamin B12 deficiency while among 14 cases of tremor phase, 9 (64.28%) had Vitamin B12 deficiency. The majority of ITS children had macrocytic anemia (65%) followed by dimorphic anemia (25%). A significant number of ITS patients (21, 80.77%), having macrocytic anemia, had Vitamin B12 deficient. Conclusion: We conclude that children of ITS presented with anemia, skin hyperpigmentation, psychomotor changes, apathetic look, and developmental abnormality. The majority of children were on faulty feeding in the form of prolonged exclusive breastfeeding. Vitamin B12 deficiency was present in a significant number of patients with ITS