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ISSN 2007-6037 (Print)
Órgano Oficial de Difusión de la Asociación Mexicana de Comunicación, Audiología, Otoneurología y Foniatría, A.C.,

2015, Number 1

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Rev Mex AMCAOF 2015; 4 (1)

Audiological findings in a case of Kabuki syndrome

Barradas-Hernández MI, Velasco-Orozco MA, Jardines-Serralde LJ

Language: Spanish
References: 16
Page: 23-31
PDF size: 427.49 Kb.


ABSTRACT

Introduction: Kabuki syndrome (KS) was initially described in 1981 in the Japanese child population, with an incidence of 1:32,000 live births. The fact that there are currently 350 cases described in the world and only one in México suggests that this entity is underdiagnosed. The etiology of KS has been little clarified; clinically, typical features are identified, such as facial dysmorphism, hearing loss, congenital heart disease, musculoskeletal, dermatological, anorectal and visceral abnormalities, mild to moderate mental retardation and deficiency in postnatal growth. Objective: To report a clinical case of SK and recognize some of its audiological alterations, which have been poorly described in the universal literature, in order to establish a diagnosis and an optimal multidisciplinary treatment. Material and methods: Six-year-old female patient with bilateral hearing loss, language problem, submucous cleft palate, musculoskeletal disorders, xerodermatosis, renal malformation, mild mental retardation, chronic adenoamigdalitis. Results: Audiometry with bilateral profound hearing loss corroborated by logoaudiometry, social utility with the use of a hearing aid was 83% on average. Tympanometry with adequate compliance and negative pressure. Absent stapedial reflexes bilaterally. Transient otoacoustic emissions: no reproducibility in both, overall and by frequency. Auditory brainstem evoked potential compatible with profound hearing loss on the right ear and severe high-pitched tones loss on the left. Tomography without inner ear malformation. Conclusion: The diagnosis of KS was integrated and a multidisciplinary medical treatment was established; there was an improvement in hearing loss, speech and language, as well as rehabilitation and psychological support.


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