Infantile tremor syndrome with global developmental delay and microcephaly in a 16-month-old male: a case report

Abstract

Introduction and Importance: Infantile Tremor Syndrome (ITS) affects children aged 6 to 18 months, and is characterized by tremors, pallor, developmental regression, skin pigmentation changes, and sparse hypopigmented hair. This case report highlights an ITS presentation in a 16-month-old exclusively breastfed male, emphasizing the significance of complementary feeding. Case presentation: The patient presented with abnormal body movements, loss of developmental milestones, hyperpigmented skin changes, hypopigmented scalp hairs, pallor, and microcephaly. Born to a vegetarian mother with inadequate prenatal care, the child’s exclusive breastfeeding without complementary feeding led to severe developmental delay and moderate malnutrition. Diagnostic workup revealed vitamin B12 deficiency, anemia, and neurologic abnormalities. Clinical discussion: ITS is associated with various manifestations, including pallor, hyperpigmentation, and tremors, commonly linked to vitamin B12 deficiency. In our case, developmental delays and malnutrition underscored the importance of early recognition. Despite neurological improvement with vitamin B12 supplementation, ITS’s long-term impact on cognitive functions necessitates vigilance and appropriate nutritional interventions. Conclusion: Early recognition of ITS is vital for the prevention of long-term neurodevelopmental sequelae. Injectable vitamin B12 supplementation and nutritional interventions have demonstrated significant developmental gains. Increased awareness among mothers about nutritional intake during pregnancy and lactation is crucial, especially among vegetarians.