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

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

SUBMITTER: Piloya T 

PROVIDER: S-EPMC7526154 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature