Pyriform sinus fistula (PSF) is a persistent embryologic third or fourth pharyngeal pouch, which typically presents as a congenital sinus tract that originates from the pyriform sinus. PSF is among the most uncommon congenital malformation of the neck. The usual clinical manifestations are either acute thyroiditis or abscess, usually on the left side of the neck. We report a case of PSF in a 9-year old female with a left cervical abscess who had been diagnosed by barium esophagogram and treated endoscopically by injection of histoacryl.
Abscess ; Barium ; Child ; Enbucrilate* ; Female ; Fistula* ; Humans ; Neck ; Pyriform Sinus* ; Thyroid Gland ; Thyroiditis

No abstract available.
Endometrial Neoplasms* ; Female

SLC26A4 mutations are common cause of congenital hearing loss in East Asia. The carrier frequency of SLC26A4 mutations is 1 in 75 in Korean populations. The SLC26A4 mutation spectrum varies according to the population. The most common mutation in Korean is replacement of histidine by arginine at codon 723 followed by exchange of guanine for adenine at the consensus acceptor splice site of intron 7, adenine to guanine change at position +3 transition donor splice site of intron 9, methionine to valine at position 147, and frameshift mutation by insertion T at N-terminal 2. Recent studies analyzed the genotype-phenotype correlation of SLC26A4 mutation and suggested that surface expression ratio of pendrin and residual anion exchange activity was related to the genotype of SLC26A4 mutations. The targeted drug to Korean SLC26A4 mutations would be helpful in preserving hearing in patients with SLC26A4 mutations.
Adenine ; Arginine ; Codon ; Consensus ; Far East ; Frameshift Mutation ; Genetic Association Studies ; Genotype ; Guanine ; Hearing ; Hearing Loss ; Histidine ; Humans ; Introns ; Methionine ; Phenotype ; Tissue Donors ; Valine

Leiomyosarcoma is a malignant tumor of smooth muscle cells that is exceedingly rare in the middle ear and temporal bone. Wide surgical resection is treatment of choice and adjuvant treatment has not proven to be of benefit. This is a report on a patient with otorrhea and rapidly growing mass on postauricualr area. A tumor that was mainly located in the middle ear and temporal bone was surgically removed and proved to be a leiomyosarcoma. The optimal surgical technique and other treatment strategy are discussed.
Ear, Middle* ; Humans ; Leiomyosarcoma* ; Myocytes, Smooth Muscle ; Temporal Bone*

Congenital anomaly of the oval window with an abnormal facial nerve course is an uncommon embryological defect, which is related to the underdevelopment of second branchial arch derivatives. Some treatments for improving hearing levels are available; these include hearing aids, vestibulotomy, neo-oval window formation, and stapes surgeries, including incudostapedotomy and malleostapedotomy. However, surgery for congenital anomalies of the oval window has rarely been described, usually in very small series of patients. We describe two cases of congenital anomalies of the oval window with aberrant facial nerve courses. One was a 40-year-old male diagnosed with unilateral congenital oval window atresia; the other was a 10-year-old male diagnosed with bilateral congenital oval window atresia. We also describe the clinical manifestations and treatment outcomes of malleostapedotomy for congenital anomalies of the oval window with aberrant facial nerve courses.
Adult ; Branchial Region ; Child ; Facial Nerve ; Hearing ; Hearing Aids ; Hearing Loss, Conductive ; Humans ; Male ; Stapes Surgery

Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative disorders, which are caused by the accumulation of lipopigment in lysosomes. Variant forms of late infantile NCLs (vLINCLs) characterized by a later onset of seizures and visual impairment (3–8 years) than in the classic form (2–4 years) are caused by mutations of the gene encoding ceroid lipofuscinosis neuronal protein 6 (CLN6). In a girl with progressive myoclonus epilepsy, we found heterozygous variants of CLN6 (NM_017882.2; NP_060352.1): c.296A>G (p.Lys99Arg) and c.307C>T (p.Arg103Trp). They were identified with whole-exome sequencing and verified with Sanger sequencing. At 7 years and 9 months, our patient had developed multiple types of seizures, prominent myoclonus with photosensitivity, regression in motor and language skills, pyramidal and extrapyramidal signs, and brain atrophy in brain images, all of which were progressive and were compatible with vLINCLs. However, this first Korean report shows no visual impairment, which resembles the previously reported Japanese case.
Asian Continental Ancestry Group ; Atrophy ; Brain ; Ceroid ; Child ; Female ; Humans ; Lysosomes ; Myoclonic Epilepsies, Progressive* ; Myoclonus ; Neurodegenerative Diseases ; Neuronal Ceroid-Lipofuscinoses ; Neurons ; Seizures ; Vision Disorders

OBJECTIVES: Vertigo combined with sudden sensorineural hearing loss (SSNHL) is known as a poor prognostic factor. We investigated clinical findings and vestibular function tests in patients of SSNHL with vertigo to find the prognostic factors. METHODS: We retrospectively evaluated data on the patients diagnosed with SSNHL with vertigo at Bucheon Soonchunhyang University Hospital from March 2009 to February 2018. We reviewed medical records and the results of vestibular function tests and audiometry. RESULTS: Of the 68 patients, 30 (44.1%) showed profound hearing loss and 53 (77.9%) showed poor recovery. Age and the degree of initial hearing loss showed negative prognostic factor in hearing recovery. Abnormal results of cervical vestibular evoked myogenic potentials (cVEMP) also showed significantly differences between good and poor recovery groups. CONCLUSIONS: In this study, most of the patients of SSNHL with vertigo showed poor recovery. Age, degree of initial hearing loss, and the abnormal result of the cVEMP have a negative effect on the prognosis of hearing recovery.
Audiometry ; Gyeonggi-do ; Hearing ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Medical Records ; Prognosis ; Retrospective Studies ; Vertigo ; Vestibular Evoked Myogenic Potentials ; Vestibular Function Tests

OBJECTIVE: This study was performed to investigate the role of matrix-metalloproteinases(MMP-2,9) and tissue inhibitor of matrix-metalloproteinase(TIMP-2) in tumor metastasis and to correlate the expression of MMP-2,9 and TIMP-2 in cervical carcinomas. METHODS: We have performed immunohistochemical staining of MMP-2,9 and TIMP-2 on 35 patients of cervical carcinomas who were treated by radical hysterectomy between 1995.1.-1996.12. using paraffin-embeded tissue specimens. RESULTS: The lymph node metastasis and lymphvascular invasion groups showed a significantly higher rate of MMP-2 (50.7% vs 37.1%, 51.2% vs 37.5%) (p<0.05). And the lymphvascular invasion group showed a significantly higher rate of expression of MMP-9 (46.6% vs 29.8%) (p<0.05). But, the lymph node metastasis and lymphvascular invasion groups showed a significantly lower rate of expression of TIMP-2 (14.2% vs 36.5%, 11.2% vs 37.3%) (p<0.05). CONCLUSION: Lymph node metastasis and/or lymphvascular invasion of cervical carcinoma were related high percentages of MMP-2,9 and low percentages of TIMP-2 expression. These data suggest that the expression of MMPs and TIMPs are closely correlated with the progression of cervical carcinoma. To determine the ratio of cells expressing MMPs and TIMPs are strongly correlated with clinical outcome requires further study.
Humans ; Hysterectomy ; Lymph Nodes ; Matrix Metalloproteinases ; Neoplasm Metastasis ; Tissue Inhibitor of Metalloproteinase-2

Sebaceous trichofolliculoma is a rare benign tumor and represents a variant of trichofolliculoma. Up to now, only 5 cases of sebaceous trichofolliculoma were reported in Korea. It generally presents as a centrally depressed solitary tumor and occurs in areas rich in sebaceous lobules. Microscopically, it shows cystic cavities with or without keratin-filled portion and sebaceous lobules. The lobules are connected to the cystic wall. We report a case of infected sebaceous trichofolliculoma on the right cheek accompanied by a unilateral microtia in a 16-year-old man. The patient was treated with oral antibiotics and surgical excision. By summariz-ing 12 past cases, 6 Korean and 7 international, we have put together clinical features of Se-baceous trichofolliculoma.
Adolescent ; Anti-Bacterial Agents ; Cheek ; Congenital Abnormalities ; Ear ; Follicular Cyst ; Humans ; Korea ; Neoplasms, Basal Cell ; Skin Neoplasms

Inflammatory pseudotumor is a pathologically benign condition, but it demonstrates a wide range of clinical features ranging from silent small sized tumors to aggressive features mimicking malignancy. Pseudotumors most commonly occur in the orbital area, and the involvement of the middle ear cavity is extremely rare. Several modalities are known for the treatment of pseudotumors, including complete surgical excision, oral steroid therapy, and radiation therapy. We describe a 35-year-old woman with inflammatory pseudotumor involving the middle ear cavity. The patient was treated with canal wall up tympanomastoidectomy and additional treatments with steroid and radiation therapy. However, she showed side effects to high dose steroid treatment and no response to radiation therapy. Therefore, we decided to use methotrexate with low dose steroid. After treatment, symptoms were completely resolved and there was no evidence of recurrence 1 year after maintaining immunosuppressant treatment.
Adult ; Ear, Middle ; Female ; Granuloma, Plasma Cell ; Humans ; Methotrexate ; Orbit ; Recurrence ; Temporal Bone