Unveiling an atypical presentation of galactosemia: A case report without hepatic involvement

Galactosemia usually presents with hepatomegaly, jaundice, and liver dysfunction. Here, we describe a case of galactosemia in a neonate lacking hepatomegaly, leading to a delayed diagnosis. Our comprehensive analysis underscores the importance of considering atypical manifestations during the diagnostic process to facilitate early intervention and prevent complications. This case highlights the significance of vigilant assessment in recognizing uncommon presentations of galactosemia, ensuring timely management and improved outcomes for affected individuals. Case Report: We present a case of a full-term male neonate, 3.4 kg in weight and 4 days of age, born to consanguineous parents with an uneventful prenatal history admitted to Paediatrics nursery. Patient was diagnosed with E. Coli sepsis then further workup confirmed diagnosis of classical galactosemia with an unusual absence of hepatomegaly, underscoring the diagnostic challenges encountered due to atypical clinical manifestations. Conclusion: Atypical presentations of rare metabolic disorders such as galactosemia can confound diagnostic efforts. This case report emphasizes the significance of vigilance and a comprehensive metabolic workup in neonates presenting with unexplained symptoms even in the absence of classic clinical features. Early diagnosis and prompt initiation of therapy are imperative to mitigate the risk of long-term squealed associated with untreated galactosemia.