• Korean Journal of Head & Neck Oncology
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• v.23 no.2
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• pp.142-146
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• 2007

Objectives and Backgrounds : After parotidectomy, some of patients complain gustatory sweating, facial flushing and discomfort in the same area. A series of these symptoms are supposed to be caused by the aberrant regeneration of the secretory parasympathetic fibers to sweat glands and blood vessels of the skin following parotidectomy. In this study, we want to compare the efficacy of thermography to the Minor's starch-iodine test for determining the presence of Frey's syndrome. Materials and Methods : 48 patients who underwent total or superficial parotidectomy from March 2002 to December 2004 were selected for this study. A subjective clinical questionnaire and the objective Minor's starchiodine test were performed to evaluate the incidence of this syndrome. Total 21 patients were confirmed as positive Frey's syndrome and infrared thermography was performed for them. Result : Frey's syndrome occurred in 21 patients(43.8%). The average temperature of parotidectomy site and normal opposite area were $27.65^{\circ}C\;and\;26.41^{\circ}C$ respectively. Thermography showed temperature difference in 20 patient(95.2%) and the difference of temperature was statistically significant above $1.0^{\circ}C$(p<0.001). The severity of symptoms were related with the difference of temperature(p<0.05). Conclusion : Thermography is useful, non-invasive, simple and quantifying method to diagnose Frey's syndrome. Additionally, this geographic diagnosis is available to show the accurate area for botulinum toxin injection.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.62-67
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• 2018

Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.

• Pediatric Infection and Vaccine
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• v.26 no.3
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• pp.179-187
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• 2019

Purpose: Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is a leading cause of periodic fever in children. This study describes the clinical characteristics of PFAPA syndrome in patients from a single center. Methods: Thirteen children diagnosed with PFAPA syndrome at Seoul National University Children's Hospital were included in this study. Retrospective medical chart reviews were performed. Results: Among the 13 patients, 8 (61.5%) were male. The median follow-up duration was 3.3 years (range, 10 months-8.3 years). The median age of periodic fever onset was 3 years (range, 1-6 years). All patients had at least 5 episodes of periodic fever and pharyngitis, managed with oral antibiotics, before diagnosis. The median occurrence of fever was every 3.9 weeks and lasted for 4.2 days. All patients had pharyngitis and 12 (92.3%) had cervical lymphadenitis. Blood tests were performed for 12 patients, and no patients had neutropenia. Both the C-reactive protein and erythrocyte sedimentation rate were elevated at medians of 4.5 mg/dL (range, 0.4-13.2 mg/dL) and 29 mm/hr (range, 16-49 mm/hr), respectively. Throat swab cultures and rapid streptococcal antigen tests were negative. Nine (69.2%) patients received oral prednisolone at a median dose of 0.8 mg/kg, and in 6 (66.7%) patients, fever resolved within a few hours. Three (23.1%) patients received tonsillectomy and adenoidectomy. Conclusions: PFAPA syndrome should be considered when a child presents with periodic fever along with aphthous stomatitis, pharyngitis, or cervical lymphadenitis. Glucocorticoid administration is effective for fever resolution and can reduce unnecessary use of antibiotics.

• Tuberculosis and Respiratory Diseases
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• v.57 no.3
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• pp.284-288
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• 2004

Central diabetes insipidus (DI) is a disease caused by insufficient release of antidiuretic hormone. Central DI with lung cancer is very rare. Most of them are caused by the pituitary metastasis, and rarely, by the paraneoplastic syndromes. Central DI is diagnosed by the water deprivation test. The treatment consists of surgical resection, radiotherapy and administration of desmopressin. We report an unusual case of central DI with non-small cell lung cancer. The diagnosis was confirmed by water deprivation test. After the administration of desmopressin, the urine osmolarity was increased. The patient's symptoms and urine osmolarity were improved by intranasal desmopressin.

• Pediatric Infection and Vaccine
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• v.28 no.3
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• pp.173-180
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• 2021

After initial reports of multisystem inflammatory syndrome in children (MIS-C) in April 2020 in Europe, this disease has been known to occur in children with recent history of coronavirus disease 2019 (COVID-19) and most cases have been reported in Europe and the Unites States of America. We report a case of a 14-year-old girl who was diagnosed with MIS-C with acute myocarditis and successfully treated with intravenous immunoglobulin (IVIG), methylprednisolone, and anakinra. At initial presentation, she had persistent high fever, generalized rash, generalized swelling, abdominal pain, and low blood pressure. She showed a remarkably elevated level of inflammation and cardiac enzyme markers and had a previous history of COVID-19 5 weeks before the initial presentation. After extensive work up, other infectious and non-infectious causes were excluded. She was diagnosed with MIS-C and initially treated with IVIG and high-dose methylprednisolone; however, despite treatment, her heart function deteriorated and coronary artery dilatation progressed. Therefore, anakinra, an interleukin-1 receptor antagonist, was administered on hospital day 6, after which her cardiac function exhibited improvement. She was discharged on hospital day 19 without any symptoms, and follow-up echocardiography after 1 month revealed fully recovered heart function with normal coronary arteries.