Ontology highlight
ABSTRACT:
SUBMITTER: Piloya T
PROVIDER: S-EPMC7526154 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Piloya Thereza T Ssematala Hawa H Dramani Lydia Paparu LP Nalikka Oliva O Baluka Miriam M Musiime Victor V
Journal of medical case reports 20200930 1
<h4>Background</h4>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.<h4>Case presentation</h4>We report the case of a 4-year-old boy, born ...[more]