The Tietz syndrome associated with cardiac malformation: a case report with literature review

Abstract Background Tietz syndrome is a very rare clinical entity characterized by the association of profound bilateral congenital sensorineural deafness and generalized hypopigmentation of skin, eyes, and integuments (snow white appearance). It is an autosomal dominant syndrome due to a mutation i...

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Autores principales:	Youssef Lakhdar, Hind Abou El Houda, Houda Mounji, Mehdi Elfakiri, Youssef Rochdi, Abdeljalil Moutaouakil, Abdelaziz Raji
Formato:	article
Lenguaje:	EN
Publicado:	SpringerOpen 2021
Materias:	Tietz syndrome Albinism MITF gene Case report Otorhinolaryngology RF1-547
Acceso en línea:	https://doaj.org/article/a94f062046664cc5875043d58829ca9b
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spelling	oai:doaj.org-article:a94f062046664cc5875043d58829ca9b2021-11-14T12:07:47ZThe Tietz syndrome associated with cardiac malformation: a case report with literature review10.1186/s43163-021-00176-91012-55742090-8539https://doaj.org/article/a94f062046664cc5875043d58829ca9b2021-11-01T00:00:00Zhttps://doi.org/10.1186/s43163-021-00176-9https://doaj.org/toc/1012-5574https://doaj.org/toc/2090-8539Abstract Background Tietz syndrome is a very rare clinical entity characterized by the association of profound bilateral congenital sensorineural deafness and generalized hypopigmentation of skin, eyes, and integuments (snow white appearance). It is an autosomal dominant syndrome due to a mutation in the melanocyte inducing transcription factor (MITF) gene. The association of a heart malformation has never been reported in this syndrome. Case presentation We report two cases of two cousins aged 5 years and 20 months respectively with a history of first degree consanguineous parents. Both girls presented with diffuse hypopigmentation of the skin, blond hair, blue eyes, and bilateral diffuse retinal hypopigmentation at ocular fundus exam. Bilateral profound sensorineural hearing loss was confirmed by auditory brainstem response in both cases. Echocardiography revealed a cardiac malformation such as interventricular communication in the older cousin and interatrial communication in the younger cousin. The family investigation did not reveal a similar case among ancestors. The diagnosis of Tietz syndrome was based on clinical criteria and pedigree. The older cousin underwent a total optical correction and a right unilateral cochlear implantation followed by speech therapy with a satisfactory result after a follow-up of two years. Unfortunately, the little cousin died following a head trauma. Conclusions Tietz syndrome is a rare autosomal dominant genetic disorder, characterized by generalized albinism with bilateral profound hearing loss. It results from a nontruncating mutation in the basic domain of in the MITF gene. Its management must include, in addition to hearing and ophthalmic rehabilitation, the research and treatment of cardiac malformations which may be life-threatening.Youssef LakhdarHind Abou El HoudaHouda MounjiMehdi ElfakiriYoussef RochdiAbdeljalil MoutaouakilAbdelaziz RajiSpringerOpenarticleTietz syndromeAlbinismMITF geneCase reportOtorhinolaryngologyRF1-547ENThe Egyptian Journal of Otolaryngology, Vol 37, Iss 1, Pp 1-5 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Tietz syndrome Albinism MITF gene Case report Otorhinolaryngology RF1-547
spellingShingle	Tietz syndrome Albinism MITF gene Case report Otorhinolaryngology RF1-547 Youssef Lakhdar Hind Abou El Houda Houda Mounji Mehdi Elfakiri Youssef Rochdi Abdeljalil Moutaouakil Abdelaziz Raji The Tietz syndrome associated with cardiac malformation: a case report with literature review
description	Abstract Background Tietz syndrome is a very rare clinical entity characterized by the association of profound bilateral congenital sensorineural deafness and generalized hypopigmentation of skin, eyes, and integuments (snow white appearance). It is an autosomal dominant syndrome due to a mutation in the melanocyte inducing transcription factor (MITF) gene. The association of a heart malformation has never been reported in this syndrome. Case presentation We report two cases of two cousins aged 5 years and 20 months respectively with a history of first degree consanguineous parents. Both girls presented with diffuse hypopigmentation of the skin, blond hair, blue eyes, and bilateral diffuse retinal hypopigmentation at ocular fundus exam. Bilateral profound sensorineural hearing loss was confirmed by auditory brainstem response in both cases. Echocardiography revealed a cardiac malformation such as interventricular communication in the older cousin and interatrial communication in the younger cousin. The family investigation did not reveal a similar case among ancestors. The diagnosis of Tietz syndrome was based on clinical criteria and pedigree. The older cousin underwent a total optical correction and a right unilateral cochlear implantation followed by speech therapy with a satisfactory result after a follow-up of two years. Unfortunately, the little cousin died following a head trauma. Conclusions Tietz syndrome is a rare autosomal dominant genetic disorder, characterized by generalized albinism with bilateral profound hearing loss. It results from a nontruncating mutation in the basic domain of in the MITF gene. Its management must include, in addition to hearing and ophthalmic rehabilitation, the research and treatment of cardiac malformations which may be life-threatening.
format	article
author	Youssef Lakhdar Hind Abou El Houda Houda Mounji Mehdi Elfakiri Youssef Rochdi Abdeljalil Moutaouakil Abdelaziz Raji
author_facet	Youssef Lakhdar Hind Abou El Houda Houda Mounji Mehdi Elfakiri Youssef Rochdi Abdeljalil Moutaouakil Abdelaziz Raji
author_sort	Youssef Lakhdar
title	The Tietz syndrome associated with cardiac malformation: a case report with literature review
title_short	The Tietz syndrome associated with cardiac malformation: a case report with literature review
title_full	The Tietz syndrome associated with cardiac malformation: a case report with literature review
title_fullStr	The Tietz syndrome associated with cardiac malformation: a case report with literature review
title_full_unstemmed	The Tietz syndrome associated with cardiac malformation: a case report with literature review
title_sort	tietz syndrome associated with cardiac malformation: a case report with literature review
publisher	SpringerOpen
publishDate	2021
url	https://doaj.org/article/a94f062046664cc5875043d58829ca9b
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The Tietz syndrome associated with cardiac malformation: a case report with literature review

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