Prenatal ultrasound diagnostic approach to Omenn syndrome: case report
DOI:
https://doi.org/10.18597/rcog.3670Abstract
Objective: To report the case of a pregnant woman with ultrasound diagnosis of altered fetal tegumental system and postnatal diagnosis of Omenn syndrome.
Case presentation: A 27-year-old patient who presented at 31 weeks of gestation with prenatal ultrasound evidence of a fetus with significant scalp edema, echogenic amniotic fluid and scaly abdominal skin, with ichtyosis variant impression on diagnostic ultrasound. The baby was born with congenital erythroderma complicated with skin infection, and later developed septic shock and died. The genetic and pathologic workup led to the conclusion of Omenn syndrome.
Conclusion: Omenn syndrome must be considered as part of the differential diagnoses when prenatal ultrasound shows findings of altered tegument system. Studies are required to assess the accuracy of ultrasound for prenatal diagnosis of erythroderma.
Author Biographies
Santiago Aristizábal-Ortiz, Fundación Santa Fe de Bogotá (Colombia).
Alba Esquivel-Villabona, Fundación Santa Fe de Bogotá (Colombia).
Yenny Constanza Bernal-Cifuentes, Universidad El Bosque, Bogotá (Colombia).
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