Work

Co-occurrence of Fanconi–Bickel syndrome and CMV infection in a child, a case report

Year: 2025

Type: article

Abstract: Introduction: Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by a spectrum of clinical manifestations, the association of this syndrome with cytomegalovirus (CMV) infection makes this condition very rare. Case presentation: We reported a 3-month-old infant with cytomegalovirus infection with presenting hepatosplenomegaly, doll-like face, microcephaly, metabolic hyperchloremic acidosis with a normal anion gap, rachitis, hyperglycosuria, proteinuria, elevated levels of alanine aminotransferase and aspartate aminotransferase, and growth retardation. After the prescription of ganciclovir, the levels of bilirubin and alanine aminotransferase decreased to normal, and the splenomegaly regressed. However, hepatomegaly and hyperglycosuria remained aggravating. Discussion: The co-occurrence of FBS and CMV infection in infants presents a complex clinical scenario, demonstrating significant challenges in diagnosis and management. Conclusion: Further research is needed to elucidate the interplay between genetic disorders like FBS and viral infections and facilitate the development of targeted therapeutic interventions and preventive strategies.

Source: Annals of Medicine and Surgery

DOI: 10.1097/ms9.0000000000003742