Abstract

Introduction: Infantile Tremor Syndrome (ITS) is a condition that mainly affects infants aged 6-24 months. Although predominantly considered a disorder of vitamin B12 deficiency, there have been some reports of an association of other micronutrient deficiencies in ITS babies. Aim: To assess the clinicoaetiological profile of cases of ITS admitted to the tertiary care centre. Materials and Methods: This was a retrospective observational study conducted at Punjab Institute of Medical Sciences, Jalandhar, Punjab, India. All cases of ITS admitted to the Paediatric ward from April 2022 to March 2023 were enrolled. Their case records were studied for clinical signs and symptoms like presenting complaints, demographic profile, feeding history, history of tremors, and developmental milestones. Examination findings were studied for the degree of malnutrition, presence of anaemia, knuckle hyperpigmentation, sparse hypopigmented hair, other evidence of micronutrient deficiency, hepatosplenomegaly, and any focal neurological deficit. Laboratory parameters, mainly blood counts, haemoglobin, Mean Corpuscular Haemoglobin (MCH), Mean Corpuscular Volume (MCV), Mean Corpuscular Haemoglobin Concentration (MCHC), peripheral smear findings, vitamin D and B12 levels, and serum albumin, were analysed to ascertain the clinicoaetiological profile of ITS. Results: A total of 19 cases were included in the study. All of them had sparse hypopigmented hair and anaemia. Thirteen (68.4%) had knuckle hyperpigmentation, 11 (58%) had tremors, and 16 (84.2%) had developmental delay/regression without any other underlying cause. Only 9 (47.4%) had laboratory evidence of vitamin B12 deficiency, while 14 (73.7%) had vitamin D deficiency. All the babies were discharged home, and tremors resolved in all of them after vitamin D, B12, and zinc therapy. Conclusion: In addition to vitamin B12, Vitamin D deficiency was seen in most cases of ITS. Hence, all patients with ITS need to be evaluated and treated for vitamin B12 as well as vitamin D deficiency for optimal treatment of this disorder.

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