A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares.
Melda Fatma İdrisoğlu, Nihal Kazar Hakgör, Biray Ertürk et al.
✦ AI-curated · Sources linked
Case in brief
A male infant presented at 12 days of age with severe cholestasis and hepatomegaly, later developing hypophosphatemic rickets and proximal renal tubular dysfunction. Genetic analysis identified a novel homozygous frameshift variant in the SLC2A2 gene. Notably, the infant experienced extreme hepatic transaminase elevations during infectious episodes, necessitating glucose infusion and supportive therapy for management.
What made this case unusual
The case highlights extreme hepatic transaminase elevations during infections, a feature not commonly associated with Fanconi-Bickel syndrome.
Diagnostic / clinical pearl
Clinicians should be aware that patients with SLC2A2 gene variants may experience significant liver involvement during infections, warranting close monitoring.
Why it matters
Understanding this atypical presentation can improve management strategies for affected patients, ensuring timely intervention during infectious episodes.