• Maxillofacial Plastic and Reconstructive Surgery
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• 제23권5호
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• pp.458-460
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• 2001

A 11-month-old infancy was referred for treatment of cleft palate. The patient's congenital deformities had included oronasal fistula on the soft palate and bifid uvula. Furrow double-opposing Z-plasty was performed under general anesthesia. However, postoperative bleeding developed at ward. Despite the pressure of operative wound, venous oozing continued and hemoglobin concentration and RBC were decreased (Hb: 5.5g/dL, RBC: $1.98{\times}10^6/mm^3$). The patient was pale and confused and transferred to Surgical Intensive Care Unit(SICU) We could not keep the peripheral venous line and there was a high risk of hypovolemic shock. Emergency transfusion was performed through the central femoral venous line and emergency operation for bleeding control was carried out. We explored the operation site and found bleeding point from the posterior pharyngeal wall. Electrocoagulation and surgicel packing were carried out and bleeding was stopped.

• Annals of Clinical Neurophysiology
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• 제6권1호
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• pp.48-51
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• 2004

The occurrence of polyneuropathy in association with monoclonal gammopathy of undetermined significance (MGUS) is quite common. However, reports of MGUS associated cranial neuropathies are rare. A 63 year-old women was presented with diplopia and swallowing difficulty. Neurological examination showed limitation of abduction of right eye, right peripheral facial palsy, decreased hearing and gag reflex, left side deviation of uvula, and decreased DTR. Sensorimotor polyneuropathy were observed with elctrophysiological studies. Protein and immunoelectrophoresis revealed IgG ${\kappa}$monoclonal gammopathy. She was treated with intravenous immunoglobulin and steroid, and her symptoms and signs were improved. This case suggested that she had sensorimotor polyneuropathy and multiple cranial neuropathies associated with IgG ${\kappa}$MGUS.

• Clinical and Experimental Pediatrics
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• 제58권8호
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• pp.313-316
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• 2015

Interstitial deletions involving the chromosome band 15q22q24 are very rare and only nine cases have been previously reported. Here, we report on a 12-day-old patient with a de novo 15q22q23 interstitial deletion. He was born by elective cesarean section with a birth weight of 3,120 g at 41.3-week gestation. He presented with hypotonia, sensory and neural hearing loss, dysmorphism with frontal bossing, flat nasal bridge, microretrognathia with normal palate and uvula, thin upper lip in an inverted V-shape, a midline sacral dimple, severe calcanovalgus at admission, and severe global developmental delay at 18 months of age. Fluorescence in situ hybridization findings confirmed that the deleted regions contained at least 15q22. The chromosome analysis revealed a karyotype of 46,XY,del(15) (q22q23). Parental chromosome analysis was performed and results were normal. After reviewing the limited literature on interstitial 15q deletions, we believe that the presented case is the first description of mapping of an interstitial deletion involving the chromosome 15q22q23 segment in Korea. This report adds to the knowledge of the clinical phenotype associated with the 15q22q23 deletion.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제34권4호
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• pp.271-275
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• 2012

Squamous cell papillomas are one of the most common lesions of the oral mucosa with a mucosa of the hard and soft palate, including the uvula, palate, tongue and lips. As an oral lesion, it raises concerns because of its clinical appearance, which may mimic exophytic carcinoma. Its pathogenesis is related to the human papilloma virus (HPV), but there is controversy regarding its viral origin. Many considered its pathogenesis as being from the HPV. But recent literature suggests that the presence of HPV may be merely an incidental finding unrelated to the development of a squamous papilloma. We accidentally found a patient not related to the HPV of oral squamous papilloma on the tongue, and we will report this case with literature review.

• Journal of Genetic Medicine
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• 제10권1호
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• pp.47-51
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• 2013

Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder caused by heterozygous mutations in the genes encoding transforming growth factor-${\beta}$ receptor type 1 or 2. It is typically characterized by a triad of hypertelorism, cleft palate or bifid uvula, and arterial tortuosity with aneurysm or dissection. Characteristic vascular abnormalities such as tortuosity, aneurysms, dissections, and stenosis are the most severe complications of LDS and can occur in the neurovascular system. We report a 5-year-old boy who presented with headaches and neurovascular abnormalities and was diagnosed with LDS with a novel mutation of the TGFBR1 gene. It is the first Korean report of neurovascular abnormalities in LDS.

• 대한유전성대사질환학회지
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• 제14권1호
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• pp.48-53
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• 2014

Smith-Lemli-Opitz syndrome (SLO) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. Here, we describe Korean siblings with SLO who were diagnosed recently, and performed a review of literature about Korean cases with SLO to date. Microcephaly and syndactyly of the second and third toes are the most common physical finding in SLOS patients. Other malformations including growth failure, cleft palate or bifid uvula, various heart malformation, genital ambiguity in males are also accompanied. Not all patients showed low levels of serum cholesterol, so DHCR7 mutation analysis can be helpful to confirmative diagnosis. Two mutations on p.R352 locus (p.R352W and p.R352Q) are commonly identified in Korean SLO patients. Although rare in Korea, SLO should be considered in the differential diagnosis of growth failure with intellectual disability, especially in patients with multiple congenital anomalies.

• The Korean Journal of Pain
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• 제12권1호
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• pp.140-143
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• 1999

Ramsay-Hunt syndrome is a related but more serious disorder caused by herpes zoster viral infection of the geniculate ganglion. It is characterized by unilateral painful vesicular rash of the uvula, palate, auricle, ear canal, and postauricular area, but it can extend into the facial tissues as well. Paralysis of the facial nerve is often seen, and there can be disequilibrium and hearing problems also. We experienced continuous cervical epidural block (CCEB) with intermittent stellate ganglion block is effective in Ramsay-Hunt syndrome. CCEB should be considered to the treatment of choice in Ramsay-Hunt syndrome.

• 수면정신생리
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• 제11권1호
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• pp.17-21
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• 2004

Nasal congestion is one of the most common symptoms of medical complaints. Snoring is caused by vibration of the uvula and the soft palate. Nasal obstruction may contribute not only to snoring and obstructive sleep apnea (OSA) but also impair application of continuous nasal positive airway pressure (CPAP), which is the most widely employed treatment for OSA. Total or near-total nasal obstruction leads to mouth breathing and has been shown to cause increased airway resistance. However, the exact role of the nasal airway in the pathogenesis of OSA is not clear and there is no consensus about the role of nasal obstruction in snoring and sleep apnea. Some reports have failed to demonstrate any correlation between snoring and nasal obstruction. On the other hand, opposing reports suggest that nasal disease may cause sleep disorders and that snoring can be improved after nasoseptal surgery. Reduced cross-sectional area causes increased nasal resistance and predisposes the patient to inspiratory collapse of the oropharynx, hypopharynx, or both. Discrete abnormalities of the nasal airway, such as septal deformities, nasal polyps, and choanal atresia and with certain mucosal conditions such as sinusitis, allergic rhinitis and inferior turbinate hypertrophy can cause snoring or OSA. Thus, these sources of nasal obstruction should be corrected medically or surgically for the effective management of OSA and adjunctive for CPAP.

• 대한두경부종양학회지
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• 제38권1호
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• pp.31-35
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• 2022

The soft palate of carcinoma limited to the uvular region is infrequent among oropharyngeal cancers. The oropharynx regulates swallowing and speech through dynamic motions. Failure to reconstruct after surgical resection of the oropharynx structure can lead to permanent velopharyngeal insufficiency. Therefore, suitable reconstruction is important in establishing proper functional outcomes while maintaining oncological safety. We present a case of a 66-year-old male who was diagnosed with oropharynx cancer limited in the uvula accompanied by lymph node metastasis. After surgical resection, reconstruction was performed with the united arrangement of bilateral palatal mucomuscular flap and superiorly based posterior pharyngeal flap. There was no aspiration or reflux after feeding and epithelialization completely occurred after 1 month postoperatively. We report a successful case that the reconstruction with the local flap described above could preserve proper oropharyngeal function after primary surgery in small-sized oropharyngeal cancer.

• 생물정신의학
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• 제22권1호
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• pp.14-19
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• 2015

Objectives The purpose of this study is to find the cephalometric variables which are significantly correlated with the apnea-hypopnea index (AHI) in suspected Korean obstructive sleep apnea (OSA) patients. Methods We examined lateral cephalogram and attended-full night laboratory polysomnography of the 40 participants who complained of OSA symptoms. The correlation analysis was conducted to find the cephalometric variables which are significantly correlated with the AHI. Results The correlation analysis showed that the higher AHI was associated with the longer distance between hyoid and mandibular plane (p = 0.023), the longer distance between C3 and hyoid (p = 0.014), the longer tongue length (p = 0.003), the larger inferior tongue area (p = 0.008), the larger anterior displacement of the hyoid bone (p = 0.024), the longer distance between posterior nasal spine and the tip of the soft palate (p = 0.021), and the larger cross-sectional area of soft palate (p = 0.001) of cephalogram in erect position. The higher AHI was correlated with the longer distance between hyoid and mandibular plane (p = 0.008), the longer tongue length (p = 0.037), the larger inferior tongue area (p = 0.013), the thicker uvula (p = 0.004), the longer distance between retrognathion and hyoid (p = 0.025), and larger cross-sectional area of soft palate (p = 0.001) of cephalogram in supine position. Conclusions The present preliminary results showed the candidate measurements of cephalogram which are significantly correlated with the AHI in suspected OSA.