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

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.

Standardization for a Korean Version of Hearing Handicap Inventory for the Elderly / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: This study has been performed to determine the reliability and validity of the Korean version of Hearing Handicap Inventory for the Elderly (HHIE), which has been adapted to the Korean population. SUBJECTS AND METHOD: For the Korean version of HHIE (K-HHIE), the processes of independent forward translation, backward translation and reconciliation were standardized using subjects older than 65 years old were recruited from the 10 referral-hospitals. Reliability and validity were evaluated by Cronbach's alpha coefficient, confirmatory factor analysis and test-retest analysis. Hearing impairment was assessed using pure tone audiometry, and the result was used as the gold standard. RESULTS: The recruited K-HHIEs were 169. The reliability of K-HHIE, checked by Cronbach's alpha coefficient, was as high as 0.95. Scale-item correlation coefficient was even higher than 0.97, which shows very high reliability of K-HHIE. Test-retest reliability and the correlation coefficients of social/situational, emotional and total scores of K-HHIE were as high as 0.73, 0.82 and 0.78, respectively. The validity of K-HHIE, checked by confirmatory factor analysis, also showed good construct validity. There was high correlation between hearing level and the scores of K-HHIE, which is another indicative result of its high validity. CONCLUSION: We have developed and validated Korean version of HHIE, which has good reliability and validity. It seems to be suitable enough for clinical use and research studies in patients with hearing impairment.

N-Acetylcysteine and N-Nitroarginine Methyl Ester Attenuate Carboplatin-Induced Ototoxicity in Dissociated Spiral Ganglion Neuron Cultures

OBJECTIVES: Carboplatin, a platinum-containing anti-cancer drug used to treat a variety of cancers, induces ototoxicity. Since, reactive oxygen species (ROS) and nitric oxide (NO) seem to be responsible for this toxicity, the antioxidant, N-acetyl-L-cysteine (L-NAC), and NO synthetase inhibitor, N-nitro-L-arginine methyl ester (L-NAME) were predicted to have protective effects against carboplatin ototoxicity. The aim of this study was to test for the protective effects of L-NAC and L-NAME on cochlear hair cells and spiral ganglion neurons (SGNs). METHODS: Cochlear organotypic cultures and dissociated spiral ganglion neuron cultures, from mice postnatal day 5 cultures were used in this study. The cultures were treated with carboplatin alone or in combination with L-NAC or L-NAME, and carboplatin-induced damage was monitored. RESULTS: Treatment with carboplatin induced a significant loss of outer hair cells, while inner hair cells were preserved in the cochlear organotypic cultures. Addition of L-NAC or L-NAME reduced the amount of carboplatin-induced hair cell damage; the differences did not reach statistical significance. However, carboplatin significantly decreased the number of surviving SGNs in dissociated cultures. The toxic effects were significantly reduced by addition of L-NAC or L-NAME. In addition, carboplatin induced the loss of neurites from the SGN somata, and this was not blocked with L-NAC or L-NAME. CONCLUSION: The results of this study suggest that ROS and NO are involved in carboplatin-induced damage to hair cells and SGNs, and administration of L-NAC/L-NAME can be used to attenuate the toxicity.

N-Acetylcysteine and N-Nitroarginine Methyl Ester Attenuate Carboplatin-Induced Ototoxicity in Dissociated Spiral Ganglion Neuron Cultures

OBJECTIVES: Carboplatin, a platinum-containing anti-cancer drug used to treat a variety of cancers, induces ototoxicity. Since, reactive oxygen species (ROS) and nitric oxide (NO) seem to be responsible for this toxicity, the antioxidant, N-acetyl-L-cysteine (L-NAC), and NO synthetase inhibitor, N-nitro-L-arginine methyl ester (L-NAME) were predicted to have protective effects against carboplatin ototoxicity. The aim of this study was to test for the protective effects of L-NAC and L-NAME on cochlear hair cells and spiral ganglion neurons (SGNs). METHODS: Cochlear organotypic cultures and dissociated spiral ganglion neuron cultures, from mice postnatal day 5 cultures were used in this study. The cultures were treated with carboplatin alone or in combination with L-NAC or L-NAME, and carboplatin-induced damage was monitored. RESULTS: Treatment with carboplatin induced a significant loss of outer hair cells, while inner hair cells were preserved in the cochlear organotypic cultures. Addition of L-NAC or L-NAME reduced the amount of carboplatin-induced hair cell damage; the differences did not reach statistical significance. However, carboplatin significantly decreased the number of surviving SGNs in dissociated cultures. The toxic effects were significantly reduced by addition of L-NAC or L-NAME. In addition, carboplatin induced the loss of neurites from the SGN somata, and this was not blocked with L-NAC or L-NAME. CONCLUSION: The results of this study suggest that ROS and NO are involved in carboplatin-induced damage to hair cells and SGNs, and administration of L-NAC/L-NAME can be used to attenuate the toxicity.

A Case of Neurovascular Cross-compression of the Eighth Cranial Nerve Representing Longstanding Uncompensated Vestibular Hypofunction / 대한평형의학회지

The neurovascular cross-compression (NVCC) of the eighth cranial nerve (CN) is a clinical entity with symptoms of recurrent vertigo or tinnitus. Although the diagnostic criteria have been defined, the precise clinical presentation and pathomechanism have not been clarified. The treatment response to the carbamazepine; drug of choice for first line medical treatment, has been considered as one of the diagnostic criteria. Herein, we present a case of chronic uncompensated unilateral vestibular hypofunction who responded dramatically to carbamazepine medication. A 55 year-old male admitted to the hospital with symptoms of recurrent oscillopsia and headache for more than 7 years. His symptoms were aggravated by positional changes. Vestibular function tests showed spontaneous nystagmus, canal paresis on caloric test and vestibular dysfunction on dynamic posturography, which represented unilateral uncompensated vestibular hypofunction. Although his symptom was not relived by vestibular rehabilitation, he was treated with carbamazepine. A long standing uncompensated unilateral vestibular hypofunction without any auditory symptoms could be one of the clinical presentations in NVCC of the eighth CN.

Acoustic Pharyngometry in Normal Adults / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: Assessment of the upper airway for possible site of obstruction is one of the keys to a successful management of patients of sleep apnea syndrome. Acoustic pharyngometry has a potential for localizing obstructive sites, so normal standard data was prerequisite for using this equipment. The aim of this study was to measure normal standard data in normal adults with acoustic pharyngometry on sitting, supine, left and right decubitus positions. SUBJECTS AND METHOD: A total number of 120 normal adults were examined by acoustic pharyngometry. RESULTS: Oropharyngeal junctional area was located within 8-11 cm, and glottic area was within 15-18 cm. There was no statistically significant difference in pharyngeal crosssectional area and pharyngeal volumes measured on sitting, supine, left and right decubitus positions (p>0.05). CONCLUSION: Acoustic pharyngometry is easy, rapid and cost-effective and has been shown to be successfully repeatable.

A Case of Fibrous Histiocytoma in Parotid Gland / 대한이비인후과학회지

Fibrous histiocytoma is a tumor of a biphasic cell population of fibroblasts and histiocytes. It usually occurs in the sun-exposed skin and orbital tissue but it has also been found in the upper aerodigestive tract, salivary gland, and deep layers of scalps and face. Fibrous histiocytoma in the parotid gland is extremely rare. It must be distinguished from other spindle cell tumors of parotid gland, particularly those of epithelial and myoepithelial origins. In immunohistochemical studies, antibody markers against vimentin and smooth muscle-specific actin lead to the diagnosis of fibrous histiocytoma. The malignant fibrous histiocytoma can be differentiated by its histopathology, since it consists of pleomorphism of cells, abundant mitotic figure, atypic mitotic figure and other tissue invasion. The clinical features such as rapid growth and distant organ metastasis allow a diagnosis of malignant variants. Treatment of benign fibrous histiocytoma can be made by a wide local excision without the sacrifice of near organs.

Acute Epiglottitis in Adults: A Review of 85 Patients / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: Acute epiglottitis is a disease that may become serious or even fatal because of sudden upper airway obstruction. The incidence of acute epiglottitis in children has declined with introduction of the Haemophilus influenza type b vaccine. However, there have been few reports about acute epiglottitis in adults up until now. The aim of this study was to assess clinical characteristics of adult cases of acute epiglottitis. SUBJECTS AND METHOD: We retrospectively reviewed 85 hospitalized adult patients who had been admitted to the Department of Otolaryngology-Head and Neck surgery, Korea University Hospital from January 1998 to December 2002, and diagnosed with acute epiglottitis. RESULTS: Among the 85 patients, 23 cases (27%) and 24 cases (28%) were found in fourth and sixth decades of age, respectively. The male-to-female ratio was 1.6:1. Monthly distribution showed that 12 cases (14%) were in March and 11 (13%) in July. The most common symptom was in the order of throat pain (78%). Others were dysphagia (68%), voice change (67%) and dyspnea (42%). All patients were treated with antibiotics and steroids. About a half of all cases (54%) were hospitalized for 4 to 5 days. Tracheostomy was performed in 2 patients and orotracheal intubation in one patient. CONCLUSION: Throat pain and dysphagia were most common symptoms of acute epiglottitis. In most cases, therapies using intravenous antibiotics and short-term steroid were effective, but otolaryngologist must also suspect the possibility of sudden upper airway obstruction. We experienced emergency situations regarding airway obstruction in only three cases during the first week of hospitalization.

A Case of Craniometaphyseal Dysplasia Associated with the Facial Paralysis / 대한이비인후과학회지

Craniometaphyseal dysplasia is a rare bone disorder of unknown etiology characterized by overgrowth of the craniofacial bones and abnormal remodeling of the metaphyses. This disease can be sporadic or transmitted by autosomal dominant and recessive modes of inheritance, with recessive cases being more severe. Excessive net bone formation leads to frontal and paranasal bossing, hypertelorism, extremely broad and flat nasal bridge with a saddle deformity, lacrimal duct obstruction, paranasal sinus and mastoid obliteration, compression of cranial nerves, with resultant loss of vision, strabismus, facial paralysis, and deafness. Also, abnormal bone remodeling results in widening in the metaphyses of the long tubular bones, giving the appearance of an Erlenmeyer flask. We present a sporadic case of craniometaphyseal dysplasia associated with the facial paralysis observed in a 4 year-old female, emphasizing the importance of early detection of accompanying lesions for proper management.

A Case of Angiomyoma of the Inferior Turbinate / 대한이비인후과학회지

Leiomyomas are benign myogenic tumors that may occur wherever smooth muscles are present. Most of them are found in the uterus, skin and alimentary tract, but they are rarely found in the upper respiratory tract. Angiomyoma of the nasal cavity and paranasal sinuses are extremely rare owing to the fact that smooth muscles are scarcely found in those regions of the body. To date, of the 25 cases reported, only 7 were located in the inferior turbinate. Surgical excision yields high cure rates. We present an unusual case of angiomyoma arising from the inferior turbinate of nasal cavity that did not present any symptoms except pain or epistaxis.