1 Department of Paediatrics, Naseer Teaching Hospital, Peshawar, KPK, Pakistan.
2 Department of Anatomy, Gajju Khan Medical College, Swabi, KPK, Pakistan.
3 Department of Paediatrics, Lady Reading Hospital, Peshawar, KPK, Pakistan.
4 Department of Gynaecology and Obstetrics, Saidu group of Teaching Hospitals, Swat, KPK, Pakistan.
5 Department of Nephrology, Khyber Teaching Hospital, Peshawar, KPK, Pakistan.
6 Department of Medicine, Bacha Khan Medical College, Swabi, KPK, Pakistan.
7 Department of Pathology, Gajju Khan Medical College, Swabi, KPK, Pakistan.
Case Study
World Journal of Advanced Research and Reviews, 2024, 23(01), 2909-2912
Article DOI: 10.30574/wjarr.2024.23.1.2283
Received on 17 June 2024; revised on 26 July 2024; accepted on 29 July 2024
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.
Galactosemia; Autosomal Recessive Disorder; Atypical presentation; Absence of hepatic involvement; Hypoglycemia; Galactose-1-phosphate uridyltransferase (GALT).
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Kamran Ahmad Khan, Shafeeq Khan, Riazullah, Kainat, Laiba Maryam, Tauseef Ahmad, Yassar Ul Mulk and Hamza Mukhtar. Unveiling an atypical presentation of galactosemia: A case report without hepatic involvement. World Journal of Advanced Research and Reviews, 2024, 23(1), 2909-2912. Article DOI: https://doi.org/10.30574/wjarr.2024.23.1.2283