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Journal of Medical Case Reports

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Open Access 01-12-2020 | Hypophosphatemic Rickets | Case report

Fanconi–Bickel syndrome in a Ugandan child – diagnostic challenges in resource-limited settings: a case report

Authors: Thereza Piloya, Hawa Ssematala, Lydia Paparu Dramani, Oliva Nalikka, Miriam Baluka, Victor Musiime

Published in: Journal of Medical Case Reports | Issue 1/2020

Abstract

Background

Fanconi–Bickel syndrome is an autosomal recessive disorder of glucose metabolism. It is an extremely rare disorder. Most cases have been reported in consanguineous communities. None of the cases have been reported in Black Africans in sub-Saharan Africa. This case was diagnosed 3 years after initial presentation due to diagnostic challenges and limited awareness of similar metabolic syndromes in our setting.

Case presentation

We report the case of a 4-year-old boy, born to non-consanguineous Black African parents, who presented with failure to thrive and rachitic features in infancy. Clinical, laboratory, and radiological features were indicative of Fanconi–Bickel syndrome. No genetic testing was done. The diagnosis was made 3 years after the initial presentation due to diagnostic challenges. He showed clinical improvement with the institution of a galactose-free diet.

Conclusion

Fanconi–Bickel syndrome occurs even in non-consanguineous Black African populations. Therefore, clinicians in resource-poor settings should raise their index of suspicion for such metabolic disorders in settings with a high prevalence of failure to thrive among children.

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Title: Fanconi–Bickel syndrome in a Ugandan child – diagnostic challenges in resource-limited settings: a case report
Authors: Thereza Piloya
Hawa Ssematala
Lydia Paparu Dramani
Oliva Nalikka
Miriam Baluka
Victor Musiime
Publication date: 01-12-2020
Publisher: BioMed Central
Keywords: Hypophosphatemic Rickets
Rickets
Published in: Journal of Medical Case Reports / Issue 1/2020
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-020-02488-5

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Fanconi–Bickel syndrome in a Ugandan child – diagnostic challenges in resource-limited settings: a case report

Abstract

Background

Case presentation

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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