Infantile tremor syndrome: a case report

Abstract

Infantile tremor syndrome (ITS) is a rare but significant clinical condition characterized by a tetrad of pallor, developmental delay or regression, skin pigmentation abnormalities, and sparse brown scalp hair, often accompanied by involuntary tremors. ITS primarily affects children aged 5 months to 3 years, with a higher prevalence in males, especially in regions like the Indian subcontinent, Southeast Asia, and Africa. The exact cause of ITS remains uncertain, but a strong association with vitamin B12 deficiency has been observed in numerous studies. Malnutrition, including deficiencies of zinc, magnesium, iron, calcium, and hypoalbuminemia, is common among affected infants, who often come from lower socioeconomic backgrounds with vegetarian mothers lacking animal food in their diets. In this case report, an 8-month-old female child presented with progressive tremors, poor feeding, and developmental delay. The child had been exclusively breastfed by a vegetarian mother and lacked proper complementary feeding. Clinical examination revealed pallor, hypopigmented hair, hyperpigmented knuckles, and generalized hypotonia. Laboratory tests confirmed vitamin B12 deficiency, anemia and other nutritional deficiencies. Neuroimaging showed cerebral atrophy. Treatment involved addressing the nutritional deficiencies, primarily through vitamin B12 supplementation, iron, magnesium, calcium, and a protein-rich diet. Tremors were managed with propranolol and phenobarbitone. Within a month of treatment, the child exhibited significant improvement in tremors, developmental milestones, and overall well-being. This case emphasizes the importance of considering ITS in infants with specific clinical features and highlights the role of healthcare providers in educating parents about proper nutrition during pregnancy and infancy. Early diagnosis and management, including nutritional interventions and symptom control, can lead to substantial improvements in affected children's health and development. Further research is necessary to better understand the etiology and optimal management strategies for ITS.