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Journal of Pregnancy and Newborncare


Case Report

Fetal Sonographic Features in an Infant with Omenn Syndrome

Des Bharti, Jennifer Gibson

Correspondence Address :

Des Bharti
Professor of Pediatrics
Quillen College of Medicine
East Tennessee State University
Johnson City, TN 37614
Tel: 423-439-6222

Received on: April 19, 2018, Accepted on: May 05, 2018, Published on: May 15, 2018

Citation: Des Bharti, Jennifer Gibson (2018). Fetal Sonographic features in an infant with Omenn Syndrome

Copyright: 2018 Des Bharti, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

  • Abstract

Omenn syndrome is a rare autosomal recessive disorder which is classified as a type of severe combined immunodeficiency (SCID). The syndrome presents as erythroderma, eosinophilia, hepatosplenomegaly, and recurrent serious infections during the first year of life. The only known treatments are bone marrow or umbilical cord stem cell transplantation; if these treatments are not performed early, the syndrome is uniformly fatal. In this case, a premature infant later diagnosed with Omenn syndrome was found to have a constellation of findings on fetal sonogram including scalp edema, echogenic amniotic fluid, and sloughing of the abdominal skin. The differential diagnosis in this case included congenital ichthyosis as well as other forms of SCID. In cases without a known family history of Omenn syndrome, perhaps prenatal ultrasound findings such as those noted in this case may be used to predict a need for further testing for immune deficiencies, both in utero and during the perinatal period. An early diagnosis of Omenn syndrome will allow for the prevention and early treatment of infections as well as early curative treatments such as bone marrow transplantation which may reduce morbidity and mortality.

Keywords: Omenn Syndrome, SCID, Fetal sonogram, Ultrasound