Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients

Acta Otorhinolaryngol Ital. 2016 Oct;36(5):415-420. doi: 10.14639/0392-100X-702.

Abstract

MYH9-related disease (MYH9-RD) is a rare genetic syndromic disorder characterised by congenital thrombocytopenia and is associated with the risk of developing progressive sensorineural hearing loss, nephropathy and presenile cataracts during childhood or adult life. All consecutive patients enrolled in the Italian Registry for MYH9-RD with severe to profound deafness were included in a retrospective study. The study population involved 147 Italian patients with MYH9-RD: hearing loss was identified in 52% of cases and only 4 patients (6%) presented severe to profound deafness at a mean age of 33 years. Deafness was associated with mild spontaneous bleeding in all patients and with kidney involvement in 3 cases. Cochlear implantation was carried out in 3 cases with benefit, and no major complications were observed. Diagnosis was performed about 28 years after the first clinical manifestation of MYH9-RD, which was never suspected by an otolaryngologist. The clinical and diagnostic aspects of 4 patients with severe to profound deafness are discussed with a focus on therapeutic implications.

La malattia MYH9-correlata è una rara sindrome genetica caratterizzata da piastrinopenia congenita associata al rischio di sviluppare, durante l’infanzia o l’età adulta, ipoacusia neurosensoriale, nefropatia e cataratta presenile ad andamento evolutivo. Furono inclusi in uno studio retrospettivo tutti i casi con sordità da severa a profonda arruolati consecutivamente nel Registro Italiano dei pazienti affetti da malattia MYH9-correlata. La popolazione esaminata coinvolse 147 pazienti Italiani con malattia MYH9-correlata: l’ipoacusia fu identificata nel 52% dei casi e solo 4 pazienti (6%) presentarono un quadro di sordità da severa a profonda all’età media di 33 anni. In tutti i 4 pazienti, la sordità fu associata ad un lieve sanguinamento spontaneo e in 3 pazienti fu accompagnata da un coinvolgimento renale. L’impianto cocleare fu eseguito in 3 casi, con beneficio, in assenza di complicanze maggiori. La diagnosi di malattia MYH9-correlata fu eseguita circa 28 anni dopo la prima manifestazione clinica della malattia che non fu mai sospettata da un otorinolaringoiatra. Saranno discussi gli aspetti clinici e diagnostici di 4 pazienti con sordità da severa a profonda affetti da malattia MYH)-correlata, focalizzando anche le implicazioni terapeutiche.

Keywords: Genetic syndrome; Hearing loss; MYH9.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Deafness / diagnosis
  • Deafness / etiology*
  • Female
  • Hearing Loss, Sensorineural / complications*
  • Humans
  • Male
  • Retrospective Studies
  • Severity of Illness Index
  • Thrombocytopenia / complications
  • Thrombocytopenia / congenital*

Supplementary concepts

  • MYH9-Related Disorders