Voice loss in Infantile Tremor Syndrome

A report describes a case of a 9-month-old girl who presented with regression of milestones for two months. She was not able to vocalize and showed a silent cry for 2 wk. The baby received exclusive breastfeeding from a vegetarian mother. Examination revealed the baby to have pallor, sparse, thin, depigmented hairs, and hyperpigmentation over the dorsum of hands and feet. 

Her labs revealed low serum vitamin B12 (200 mmol/L), elevated plasma homocysteine (24 pg/ml), and normal blood thiamine levels (0.44 µg/dl). 

The patient received intramuscular Hydroxycobalamin 1 mg/day. On day 3 of treatment, she developed tremors and regained her cry on day 7. At six months follow-up, she had gained milestones, with a normal voice.

This report indicates severe vitamin B12 deficiency can cause aphonia due to basal ganglia dysfunction. 

Kumar P, Patil K, Sankhyan N. Aphonia in Infantile Tremor Syndrome. Indian J Pediatr. 2024; 91:199. https://doi.org/10.1007/s12098-023-04829-w