Belgian Journal of Paediatrics
A case report of a rare cause of hypophosphatemic rickets--cystinosis
Vol. 24 No. 2 (2022), Case reports
Vol. 24 No. 2 (2022)

A case report of a rare cause of hypophosphatemic rickets--cystinosis

Case reports
Published 2022-07-12 — Updated on 2023-01-17
Maureen Vandenbroucke
Pediatric department, CHU de Charleroi (Hôpital civil Marie Curie), Charleroi, Belgium
Fanny Depasse
Ophthalmology Department, HUDERF (Hôpital Universitaire Des Enfants Reine Fabiola), Brussels, Belgium
Nadejda Ranguelov
Pediatric department, CHU de Charleroi (Hôpital civil Marie Curie), Charleroi and Pediatric nephrology, Cliniques universitaires Saint Luc, Brussels, Belgium
Eric Cavatorta
Head of Pediatric department, CHU de Charleroi (Hôpital civil Marie Curie), Charleroi, Belgium
Olivier Gilliaux
Laboratoire de médecine expérimentale (ULB222), Faculté de médecine, Université libre de Bruxelles, ISPPC CHU de Charleroi, Charleroi, Belgium

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Keywords

children
hypophosphatemic rickets
cystinosis
failure to thrive
case report

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How to Cite

Vandenbroucke, M., Depasse, F., Ranguelov, N., Cavatorta, E., & Gilliaux, O. (2023). A case report of a rare cause of hypophosphatemic rickets--cystinosis . Belgian Journal of Paediatrics, 24(2), 143–146. Retrieved from http://belgjpaediatrics.com/index.php/bjp/article/view/83 (Original work published July 12, 2022)
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Abstract

Bowed legs and failure to thrive in children must be thoroughly investigated. Rickets results from deficient mineralization at the growth plate and can lead to bone deformation. The leading cause is vitamin D deficiency, but in rare cases, rickets can be caused by abnormalities of phospho-calcic metabolism, either primary (inherited) or secondary.

A two-year-old boy presented with bowed legs and failure to thrive. Investigations revealed hypophosphatemic rickets from renal Fanconi syndrome due to infantile cystinosis. The patient was then treated with oral cysteamine and electrolytes, and the genu varum slowly improved.

 

 

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