Fanconi\u2013Bickel syndrome in a Ugandan child \u2013 diagnostic challenges in resource-limited settings: a case report

Abstract

BackgroundFanconi–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 presentationWe 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.ConclusionFanconi–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.