Clinical profile of infantile tremor syndrome: An observational study from a single tertiary care centre in India

Introduction: Infantile tremor syndrome (ITS) produces pallor, tremors, a sudden or progressive onset of mental and psychomotor abnormalities, pigmentary disorders of the skin and hair, and a regression of developmental milestones.Objectives: To describe the clinical profile of patients with ITS admitted to a tertiary care centre.Method: An observational study was conducted at a tertiary care centre in India on all cases of ITS admitted from August 2019 to December 2021. Clinical and haematological parameters were studied of all admitted patients with ITS during the study period.Results: The study included 25 patients. Mean age at presentation was 11.5 ± 5.2 months (range 5 to 28 months. There were 16 (64%) males; 16 (64%) had exclusive breastfeeding; 21 (84%) mothers were vegetarian; 13(52%) had lower respiratory tract infection; 7 (28%) were in shock. All 25 children had pallor and knuckle depigmentation. Developmental delay was seen in 12(48%) children and neurodevelopmental regression in 7(28%) children. Anaemia was present in all 25 (100%) children. Serum vitamin B12 levels were low in all 25 children with and without tremors.Conclusions: All ITS patients in the study had Vitamin B12 deficiency and 84% of the mothers were vegetarian; Of the 25 children with ITS, 64% were males, 64% were exclusively breastfed, 52% had lower respiratory tract infection, 28% were in shock, 100% had pallor and knuckle depigmentation, 48% had developmental delay and 28% had neurodevelopmental regression