Clin Exp Otorhinolaryngol.  2013 Jun;6(2):99-102.

Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome

• Chu HS
• Chung HS
• Ko MH
• Kim HJ
• Ki CS
• Chung WH
• Cho YS
• Hong SH

Abstract

Hearing loss (HL) is one of the most frequent clinical manifestations of patients who suffer with multi-systemic genetic disorders. HL in association with other physical stigmata is referred to as a syndromic form of HL. LEOPARD syndrome (LS) is one of the disorders with syndromic HL and it is caused by a mutation in the PTPN11 or RAF1 gene. In general, 5 year old children who undergo cochlear implantation usually show a marked change in behavior regarding sound detection within the first 6 months of implant use, but word identification may not be exhibited for at least another 6-12 months of implant use. We herein report on a 5-year-old girl with LS. Her clinical manifestations including bilateral sensorineural HL, which indicated the diagnosis of LS. We confirmed the diagnosis by identifying a disease-causing mutation in the PTPN11 gene, which was a heterozygous missense mutation Ala461Thr (c.1381G>A). She underwent cochlear implantation (CI) without complications and she is currently on regular follow-up at postoperative 1 year. This is the first reported case of CI in a patient with LS in the medical literature.

Keyword

LEOPARD syndrome; Mutation; Cochlear implantation

MeSH Terms

Child
Christianity
Cochlear Implantation
Cochlear Implants
Follow-Up Studies
Hearing
Hearing Loss
Humans
LEOPARD Syndrome
Mutation, Missense
Panthera

Figure

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  Fig. 1 The patient had hypertelorism, ptosis and low-set ears (A), and diffuse lentiginosis on the anterior trunk (B).

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  Fig. 2 Computed tomography (CT) of the temporal bone (A, B) and magnetic resonance imaging (MRI) of the internal auditory canal were performed (C). Bilateral enlarged vestibular aqueducts (arrow) were identified, but both of the internal auditory canals were observed to be of normal size. The cochlea and the semicircular canals were also of normal shape and filled with fluid on both sides. (A) temporal bone CT of the right side, (B) temporal bone CT of the left side, (C) T2 weighted MR coronal view image.

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  Fig. 3 The patient had a missense mutation in the PTPN11 gene (c.1381G>A, p.Ala461Thr) that was detected on direct sequencing analysis.

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