Rare case of Nutritional rickets presenting with developmental regression: a case report

Rickets is a disorder of defective mineralisation of the growth plate. Vitamin D deficiency remains the leading cause of nutritional rickets worldwide. It is a disorder of defective chondrocyte differentiation and mineralisation of the growth plate and hence only seen in growing children.

Researchers present the case of a 3.5-year-old breastfed boy who presented with dental abscess when a history of developmental regression was noted. Clinical assessment revealed hypotonia, poor growth and stunting. Biochemistry identified hypocalcaemia (1.63mmol/L, [normal range (NR) 2.2-2.7mmol/L]), severe vitamin D deficiency (25hydroxyvitamin D 5.3nmol/L, [NR > 50nmol/L]) with secondary hyperparathyroidism (Parathormone 159pmol/L, [NR 1.6-7.5pmol/L]) and rickets on radiographs. Growth failure screening suggested hypopituitarism with central hypothyroidism and low IGF1 at baseline, however, dynamic tests confirmed normal axis. Management included nasogastric nutritional rehabilitation, cholecalciferol and calcium supplementation and physiotherapy. A good biochemical response in all parameters was observed within 3 weeks and reversal of developmental regression by 3 months from treatment. Developmental regression as a presentation of nutritional rickets is rare and requires a high index of suspicion.

Developmental regression of motor milestones is a rare but serious presentation of severe vitamin D deficiency which is reversed on treatment. Severe nutritional deficiency manifesting as hypopituitarism is rare but prompt recovery with nutritional rehabilitation is noted.

Nutritional rickets is caused by vitamin D and/or dietary calcium deficiency. There are a handful of reports of children presenting with delayed motor development, in particular delay in walking as a result of nutritional rickets [9, 14, 15] however, reports of developmental regression are rare.

Reference:

Pieridou, C., Uday, S. Nutritional rickets presenting with developmental regression: a rare presentation of rickets. BMC Pediatr 23, 330 (2023). https://doi.org/10.1186/s12887-023-04127-6

Keywords:

BMC Pediatrics, Pieridou, C., Uday, S, Nutritional, rickets, presenting, developmental, regression, rare, presentation, rickets