Liya Vladimirovna TOROPCHINA, Elena Isaakovna ZELIKOVICH, Natalia Nikolaevna MARTYNOVICH, Sarkit Kozhabergenovna KOZHANTAEVA, Ender GÜÇLÜ
Düzce Tıp Fakültesi Dergisi - 2026;28(1):108-112
The case report aimed to present a clinical case of a 3-year-old boy, who presented first with motor delay at 3 months, later with bilateral total deafness and hypotonia, and was diagnosed as Pierpont syndrome with an autosomal dominant inheritance after a genetic counseling. Pierpont syndrome is a rare sporadic genetic disorder characterized by a general developmental delay, unusual facial features, abnormal fat distribution in the distal limbs, and hearing loss. The literature review is made, the hearing condition of the case is described, computed tomography findings of the temporal bones and 3 Tesla magnetic resonance imaging of the auditory nerves are presented. This case report, describing the audiologic picture in Pierpont syndrome, emphasizes the importance of referring patients with hearing loss to a geneticist and thoroughly examining. In addition to clinical findings, genetic evaluation is of great importance in the diagnosis of this rare syndrome.
