2024/12/31 by A Ben Chehida., A Bouslema, A Maherzi. +8
#Fancony syndrome #Galactosemia #Galactosémie #cataract #cataracte #hepatic insufficiency #hepatomegaly #hépatomégalie #insuffisance hépatocellulaire #syndrome de Fanconi
paper · doi:10.71566/pist-rmp-194974
Aim: to stress on diagnosis difficulties in galactosemia with partial enzyme deficiency. Case report: Our patient, born from consanguineous Lybian parents, presented with prolonged neonatal fatty diarrhea and poor weight gain. Exocrin pancreatic insufficiency was documented and cystic fibrosis was rouled out. He presented later with hepatomegaly, edema, ascites and skin pallor. He had hepatic fai- lure with slight elevation of alphafoetoprotein and renal tubular dysfunction. Residual activity of uridyl ga- lactose-1-phosphate transferase was about 50% of normal. There were no catarct and no urine reducing substances. Galactosemia was confirmed by identification of homozygous N314 mutation (D2 variant). Conclusion: Molecular study is sometimes mandatory to diagnose galactosemia with partial enzyme de- ficiency.