Elevated alpha-fetoprotein in a 3-month-old infant: the significance in a patient with beckwith-wiedemann syndrome

A 3-month-old female infant with omphalocele, posterior cleft palate and bilateral hydronephrosis was inadvertently discovered to have macroglossia, hepatomegaly, and facial nevus flammeus during hospitalisation for community-acquired pneumonia. A clinical diagnosis of Beckwith-Wiedemann syndrome (BWS), a disease with a higher predisposition to developing embryonal tumours was made. A liver ultrasound revealed a haemangioma at section VIII with the absence of hepatoblastoma. A serum alpha-fetoprotein (AFP) of 413 IU/mL was initially a concern given it was 60 times higher than the stated reference interval but was noted to be age-appropriate and related to the patient’s underlying disease. This case report highlights the importance of reporting an AFP age-specific reference interval as well as the necessity of monitoring AFP in a child with BWS due to the higher risk of hepatoblastoma.

Text 2023122608303112_2023-0283.pdf - Published Version Download (95kB) Official URL or Download Paper: https://medic.upm.edu.my/jurnal_kami/volume_19_202...

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