Sensorineural Hearing Loss and Hypothyroidism in A Patient with Cernunnos Deficiency; A Case Report

Abstract

Cernunnos deficiency is a rare radiosensitive form of severe combined immunodeficiency (SCID). Herein, we report a patient with recurrent infections, birdlike face, microcephaly, Failure to thrive (FTT), and hypogammaglobinemia accompanied by considerable and rare features of sensorineural hearing loss and hypothyroidism with a mutation in splicing site of the third intron of non-homologous end joining 1 (NHEJ1) gene. The mutation was associated with T-B-NK + in flowcytometry. Distinct clinical manifestation along with a rarely reported genetic site mutation was noticeable in the reported case. The clinicians should be sensitive enough to suspect SCID in any patient with recurrent infections, microcephaly, FTT, and hypogammaglobinemia. Also, it is highlightable that every case of SCID with microcephaly should prompt us to the SCIDs with genetic mutations sensitive to radiation and further investigations are mandatory in highly suspicious patients.