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


Journal

BMC pediatrics
ISSN: 1471-2431
Titre abrégé: BMC Pediatr
Pays: England
ID NLM: 100967804

Informations de publication

Date de publication:
29 06 2023
Historique:
received: 03 12 2022
accepted: 11 06 2023
medline: 3 7 2023
pubmed: 30 6 2023
entrez: 29 6 2023
Statut: epublish

Résumé

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.

Identifiants

pubmed: 37386483
doi: 10.1186/s12887-023-04127-6
pii: 10.1186/s12887-023-04127-6
pmc: PMC10308663
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

330

Informations de copyright

© 2023. Crown.

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Auteurs

Chariklia Pieridou (C)

Department of Endocrinology and Diabetes, Birmingham Women's and Children's Hospital, Steelhouse Lane, Birmingham, UK.

Suma Uday (S)

Department of Endocrinology and Diabetes, Birmingham Women's and Children's Hospital, Steelhouse Lane, Birmingham, UK. suma.uday@nhs.net.
Institute of Metabolism and Systems Research, University of Birmingham, Edgbaston, Birmingham, UK. suma.uday@nhs.net.

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