scholarly journals Cochlear implantation in a Chinese patient with a novel frameshift variant in POU3F4 gene and incomplete partition type III: a case report

2022 ◽  
Vol 50 (1) ◽  
pp. 030006052110662
Author(s):  
Lanye Hu ◽  
Jie Chen ◽  
Ruen Yao ◽  
Yuan Xin ◽  
Xuhua Fang ◽  
...  
Keyword(s):  
Cochlear Implantation ◽  
Chinese Patient ◽  
Csf Leak ◽  
Insertion Mutation ◽  
Specific Domain ◽  
Type Iii ◽  
Biological Parents ◽  
Novel Variant ◽  
Incomplete Partition ◽  
The Right

Variations in the POU Class 3 Homeobox 4 ( POU3F4) gene are associated with X-linked mixed deafness. Here, the identification of a novel variant of POU3F4 in a male paediatric patient (the proband) with incomplete partition type III (IP-III) hearing impairment, is described. Clinical data were collected from the proband and his biological parents. Whole exome sequencing of the proband revealed a novel frameshift insertion mutation in POU3F4 (c.717_718ins GTGCCTTGCAG : p.Leu240Valfs*5) in a hemizygous state. This variant likely truncates the protein within the POU-specific domain, and the proband’s biological mother was found to be a carrier of this variant. After excluding all contraindications, the proband underwent cochlear implantation in the right ear in June 2020. Cerebrospinal fluid (CSF) gushing was observed during surgery, but there were no postoperative complications, such as CSF leak, meningitis, or facial nerve stimulation. A novel pathogenic frameshift variant of POU3F4 was identified, enriching the known mutation spectrum of POU3F4. Effective perioperative prevention and response measures should be taken to reduce the incidence of CSF gushing and meningitis in patients receiving IP-III cochlear implantation.

scholarly journals Cochlear implantation in cases with incomplete partition type III (X-linked anomaly)

2008 ◽  
Vol 265 (11) ◽  
pp. 1439-1439
Author(s):  
Armagan Incesulu ◽  
Baki Adapinar ◽  
Cem Kecik
Keyword(s):  
Cochlear Implantation ◽  
Type Iii ◽  
Incomplete Partition

Cochlear implantation using a custom guide catheter in 14 patients with incomplete partition type III

2018 ◽  
Vol 43 (5) ◽  
pp. 1379-1383 ◽  
Author(s):  
H. Tian ◽  
L. Wang ◽  
F. Gao ◽  
W. Liang ◽  
K.A. Peng
Keyword(s):  
Cochlear Implantation ◽  
Type Iii ◽  
Guide Catheter ◽  
Incomplete Partition

scholarly journals Cochlear Implantation in a Patient with a Novel POU3F4 Mutation and Incomplete Partition Type-III Malformation

2020 ◽  
Vol 2020 ◽  
pp. 1-9
Author(s):  
Xiuhua Chao ◽  
Yun Xiao ◽  
Fengguo Zhang ◽  
Jianfen Luo ◽  
Ruijie Wang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cochlear Implantation ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Bioinformatic Analysis ◽  
Chinese Family ◽  
Whole Exome ◽  
Novel Variant ◽  
Genetic Features ◽  
The Right

Aims. This study is aimed at (1) analyzing the clinical manifestations and genetic features of a novel POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family and (2) reporting the outcomes of cochlear implantation in a patient with this mutation. Methods. A patient who was diagnosed as the IP-III malformation underwent cochlear implantation in our hospital. The genetic analysis was conducted in his family, including the whole-exome sequencing combined with Sanger sequencing and bioinformatic analysis. Clinical features, preoperative auditory and speech performances, and postoperative outcomes of cochlear implant (CI) were assessed on the proband and his family. Results. A novel variant c.400_401insACTC (p.Q136LfsX58) in the POU3F4 gene was detected in the family, which was cosegregated with the hearing loss. This variant was absent in 200 normal-hearing persons. The phylogenetic analysis and structure modeling of Pou3f4 protein further confirmed that the novel mutation was pathogenic. The proband underwent cochlear implantation on the right ear at four years old and gained greatly auditory and speech improvement. However, the benefits of the CI declined about three and a half years postoperation. Though the right ear had been reimplanted, the outcomes were still worse than before. Conclusion. A novel frame shift variant c.400_401insACTC (p.Q136LfsX58) in the POU3F4 gene was identified in a Chinese family with X-linked inheritance hearing loss. A patient with this mutation and IP-III malformation could get good benefits from CI. However, the outcomes of the cochlear implantation might decline as the patient grows old.

Cochlear implantation in cases with incomplete partition type III (X-linked anomaly)

2008 ◽  
Vol 265 (11) ◽  
pp. 1425-1430 ◽  
Author(s):  
Armagan Incesulu ◽  
Baki Adapinar ◽  
Cem Kecik
Keyword(s):  
Cochlear Implantation ◽  
Type Iii ◽  
Incomplete Partition

scholarly journals Incomplete Partition Type III: Computed Tomography Features and Cochlear Implantation Complications

2021 ◽  
Vol 36 (4) ◽  
pp. e286-e286
Author(s):  
Raya Salim Al-Busaidi ◽  
Salwa Jaffar Habib ◽  
Ammar Mohsin Al-Lawati ◽  
Khalid Tahhan ◽  
Yousuf Al-Saidi
Keyword(s):  
Computed Tomography ◽  
Cochlear Implant ◽  
Revision Surgery ◽  
Cochlear Implantation ◽  
Internal Auditory Canal ◽  
High Resolution Computed Tomography ◽  
Type Iii ◽  
Implant Selection ◽  
Incomplete Partition ◽  
Electrode Selection

In this case report, we review a male child who presented with severe bilateral hearing loss. Preoperative high-resolution computed tomography (HRCT) evaluation facilitated the initial diagnosis of the disease, which revealed typical findings of cochlear incomplete partition type III anomaly (IP-III), surgical planning, and cochlear implant selection to avoid possible complications. The child underwent cochlear implantation, which resulted in gushing and misplacement of the electrodes into the internal auditory canal (IAC) as postoperative complications. Postoperative imaging was used to determine the position of the implant and to assess the complications. The child’s postoperative X-ray revealed misplacement of the cochlear implant, the extent of which was further assessed by a HRCT scan for preplanning the revision surgery and electrode selection. Following the revision surgery, a further HRCT scan confirmed proper implantation and ruled out any further complications.

Cochlear Implant in Patients with Incomplete Partition Type III

2009 ◽  
Vol 52 (6) ◽  
pp. 492 ◽  
Author(s):  
Jae Hyuk Choi ◽  
Kyu Yup Lee ◽  
Eun Jung Lim ◽  
Sang Heun Lee
Keyword(s):  
Cochlear Implant ◽  
Type Iii ◽  
Incomplete Partition

Pneumocephalus and CSF leak secondary to skull base fracture by pyrotechnical object: case report

2021 ◽  
Vol 3 (3) ◽  
Author(s):  
Marcos Vilca ◽  
◽  
Carlos Palacios ◽  
Sofía Rosas ◽  
Ermitaño Bautista ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Intracranial Pressure ◽  
Skull Base ◽  
Rare Complication ◽  
Cerebrospinal Fluid Leak ◽  
Standing Position ◽  
Csf Leak ◽  
Skull Base Fracture ◽  
Timely Diagnosis ◽  
The Right

Introduction: Pneumocephalus is mainly associated with traumatic injuries, being a rare complication but with high mortality rates; it behaves like a space-occupying lesion and increases intracranial pressure. The symptoms are not specific, but in the event of trauma it is necessary to suspect this entity to carry out a timely diagnosis and treatment, since being the product of the skull base fracture it can cause communication with the outside, and the appearance of cerebrospinal fluid (CSF) leak. Clinical Case: a 38-year-old male patient who suffers trauma from a pyrotechnic explosion near his right ear, when handling a pyrotechnic object (whistle) during the New Year, presenting severe pain, slight bleeding in the right ear, feeling faint and holocranial headache that increased in a standing position; likewise, he presents high-flow aqueous secretion (CSF) from the right ear. Brain and skull base tomography (CT) showed air in the intracranial cavity, fracture of the skull base, and the ossicles of the right middle ear. Conservative management was performed using rest and lumbar drainage, presenting a satisfactory evolution. Conclusion: Pneumocephalus is a frequent and expected complication of trauma with a skull base fracture. Its early and timely diagnosis using skull base CT is essential to define therapeutic measures. Accidents due to the misuse of pyrotechnics continue to be a relevant problem in our country. Knowing and disseminating its consequences can help raise awareness in the population. Keywords: Pneumocephalus, Skull Base, Intracranial Pressure, Cerebrospinal Fluid Leak. (Source: MeSH NLM)

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