Nutritional rickets presenting with developmental regression: a rare presentation of rickets

BMC Pediatrics

Case Report

Chariklia Pieridou¹  Suma Uday² 

[1] Department of Endocrinology and Diabetes, Birmingham Women’s and Children’s Hospital, Steelhouse Lane, Birmingham, UK;Department of Endocrinology and Diabetes, Birmingham Women’s and Children’s Hospital, Steelhouse Lane, Birmingham, UK;Institute of Metabolism and Systems Research, University of Birmingham, Edgbaston, Birmingham, UK;

关键词: Rickets;    Vitamin D deficiency;    Developmental regression;    Hypovitaminosis D;    Milestones;   

DOI  :  10.1186/s12887-023-04127-6

 received in 2022-12-03, accepted in 2023-06-11,  发布年份 2023

来源: Springer

【 摘 要 】

Rickets is a disorder of defective mineralisation of the growth plate. Vitamin D deficiency remains the leading cause of nutritional rickets worldwide.We 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.

【 授权许可】

CC BY   
© Crown 2023