Bilateral Sensorineural Deafness and Congenital Malformation of the Middle, Internal Ear and Auditory Nerves in a Child with Pierpont Syndrome: A Case Report

Abstract

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.

Keywords

• Pierpont syndrome
• inner ear
• congenital defects
• multidetector computed tomography
• magnetic resonance imaging

References

1. Kahlert AK, Weidensee S, Mackenroth L, Porrmann J, Rump A, Di Donato N, et al. Pierpont syndrome: report of a new patient. Clin Dysmorphol. 2017;26(4):205-8. doi:10.1097/MCD.0000000000000184.
2. Pierpont ME, Stewart FJ, Gorlin RJ. Plantar lipomatosis, unusual facial phenotype and developmental delay: a new MCA/MR syndrome. Am J Med Genet. 1998;75(1):18-21.
3. Ismaili-Jaha V, Spahiu-Konusha S, Jaha A. Pierpont syndrome-report of a new patient. Clin Case Rep. 2021;9(4):2113-6. doi:10.1002/ccr3.3959.
4. Oudesluijs GG, Hordijk R, Boon M, Sijens PE, Hennekam RC. Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome. Am J Med Genet A. 2005;137(1):77-80. doi:10.1002/ajmg.a.30863.
5. Wright EMMB, Suri M, White SM, de Leeuw N, Vulto-van Silfhout AT, Stewart F, et al. Pierpont syndrome: a collaborative study. Am J Med Genet A. 2011;155A(9):2203-11. doi:10.1002/ajmg.a.34147.
6. Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, et al. Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. Eur J Med Genet. 2017;60(10):504-8. doi:10.1016/j.ejmg.2017.07.003.
7. Vadivelu S, Edelman M, Schneider SJ, Mittler MA. Choroid plexus papilloma and Pierpont syndrome. J Neurosurg Pediatr. 2013;11(2):115-8. doi:10.3171/2012.10.PEDS12219.
8. Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, et al. A specific mutation in TBL1XR1 causes Pierpont syndrome. J Med Genet. 2016;53(5):330-7. doi:10.1136/jmedgenet-2015-103233.

9. Arroyo Carrera I, Fernández-Burriel M, Lapunzina P, Tenorio JA, García Navas VD, Márquez Isidro E. TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum. Clin Genet. 2021;99(6):812-7. doi:10.1111/cge.13937.
10. Lemattre C, Thevenon J, Duffourd Y, Nambot S, Haquet E, Vuadelle B, et al. TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation. Am J Med Genet A. 2018;176(12):2813-8. doi:10.1002/ajmg.a.40510.
11. Quan Y, Zhang Q, Chen M, Wu H, Ou J, Shen Y, et al. Genotype and phenotype correlations for TBL1XR1 in neurodevelopmental disorders. J Mol Neurosci. 2020;70(12):2085-92. doi:10.1007/s12031-020-01615-7.