• Pediatric Infection and Vaccine
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• 제5권2호
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• pp.283-288
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• 1998

Recurrent meningitis in children is not only a potentially life threatening condition, but often involves the child in the trauma though repeated hospital admissions and multiple invasive investigations to find the underlying causes. Symptoms and signs of CSF rhinorrhea or otorrhea are infrequent in these patients and difficult to diagnose in young children. All young children treated for meningitis should then be administered an evoked potential audiometry as a post-treatment test. If sensorineural hearing loss is identified, the clinician should be alerted to the possibility of CSF leakage as the cause of the meningitis. Radiologic studies should be performed to rule out preexisting congenital, or acquired, abnormalities requiring surgical exploration. Two young children with recurrent meningitis due to a right cochlear aplasia and a cribriform plate defect caused by trauma are presented to illustrate the problems of diagnosis and management. A review of literatures will also be presented briefly.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.147-151
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• 2021

The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism, congenital heart defect, long thumbs/great toes, and thyroid dysfunction. The etiology of SBBYSS has been shown to be due to heterozygous KAT6B gene mutation. Here we report a case of a neonate with SBBYSS identified a novel mutation in KAT6B gene. The patient showed typical dysmorphic facies, cryptorchidism with micropenis, overriding fingers, and long thumbs and toes at birth. He had also hypothyroidism, large atrial septal defect, and sensorineural hearing loss. The next generation sequencing identified a heterozygous novel variant, c.5206C>T (p.Gln1736Ter) in KAT6B gene. At the 9 months of age, he underwent patch closure for atrial septal defect. Until the 12-month follow-up, he was under-developed.

• Childhood Kidney Diseases
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• 제26권1호
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• pp.31-39
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• 2022

Alport syndrome (AS) is a progressive hereditary nephritis that is often accompanied by sensorineural hearing loss and ocular abnormalities. It is inherited in three modes of X-linked AS (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by pathogenic variants in COL4A5, while ARAS and ADAS are caused by those in COL4A3 or COL4A4. There is currently no curative treatment for AS; however, angiotensin-converting enzyme inhibitors (ACEi) can improve the outcome of AS. In the past decade, multiple studies have shown that early intervention with ACEi upon isolated microscopic hematuria or microalbuminuria could delay disease progression, and early diagnosis is crucial for early treatment. Therefore, a new classification of AS based on molecular diagnoses has been proposed, including the paradigm shift of re-classifying female "carriers" to "patients" and "thin basement membrane nephropathy" to "ADAS." In addition, with the detection of COL4A mutations in some patients with biopsy-confirmed IgA nephropathy, focal segmental glomerulosclerosis, and chronic kidney disease of unknown origin, it is suggested that the phenotype of AS should be expanded. In this review, we highlight the landmark studies and guidelines published over the past decade and introduce strategies for early diagnosis and treatment to improve the outcomes of AS.

• Journal of Genetic Medicine
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• 제16권2호
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• pp.55-61
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• 2019

Purpose: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first reported in 2014. These variants are associated with diverse phenotypes ranging from CAGSSS (CAtaracts, Growth hormone deficiency, Sensory neuropathy, Sensorineural hearing loss, and Skeletal dysplasia) and Leigh syndrome to isolated nonsyndromic cataracts. Here, we describe the phenotypic and genetic spectrum of Korean patients with IARS2-related disorders. Materials and Methods: Using whole-exome sequencing followed by Sanger sequencing, we identified five patients with IARS2 mutations. Their medical records and brain magnetic resonance images were reviewed retrospectively. Results: All five patients presented with developmental delay or regression before 18 months of age. Three patients had bilateral cataracts, but none had hearing loss or sensory neuropathy. No evidence of skeletal dysplasia was noted, but two had short stature. One patient had cardiomyopathy and another exhibited renal tubulopathy and hypoparathyroidism. Their brain imaging findings were consistent with Leigh syndrome. Interestingly, we found the recurrent mutations p.R817H and p.V105Dfs*7 in IARS2. Conclusion: To our knowledge, this is the first report of Korean patients with IARS2-related disorders. Our findings broaden the phenotypic and genotypic spectrum of IARS2-related disorders in Korea and will help to increase clinical awareness of IARS2-related neurodegenerative diseases.

• 한방안이비인후피부과학회지
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• 제21권1호
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• pp.121-132
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• 2008

Objective : This study was performed to examine the patterns of inpatients that had visited Dept. of Dermatology Hospital of Oriental Medicine, Dongguk University. Methods : We analysed statistic study in 106 patients, who had admitted to the Dept. of Dermatology, Ophthalmology & Otorhinolaryngology Hospital of Oriental Medicine, Dongguk University from July, 2005 to January, 2008. Results : The results were as follows; 1. Males were 50.94% and females were 49.06%. 2. Distribution of aging was 18.87% in twenties and 17.92% in fifties. 3. Common disease group were Facial palsy(33.96%); Atopic dermatitis(21.7%); Tinnitus(7.55%); Sudden Sensorineural Hearing loss(4.72%); Sore throat(5.66%). 4. Average age of Facial palsy patients was 50.9 years old, average hospitalized period were 10.47days and subjective satisfaction rate was 2.56 points on the basis of 4 points. 5. Average age of Atopic dermatitis patient's average age was 22.22 years old, average hospitalized period were 8.35days and subjective satisfaction rate was 3.44 points on the basis of 4 points. 6. 47.2% of all patient were admitted into the hospital on 1st or 2nd outpatient service and 44% of Facial palsy patient were admitted into the hospital via emergency room. 7. All patient's average hospitalized period were 7.5 days. 8. All patient's subjective satisfaction rate were 2.97 points on the basis of 4 points. Conclusion : This study suggests that oriental medical treatments is especially popular in facial palsy and atopic dermatitis. We have to take steps for effective management and treatment for special diseases and ages.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.44-48
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• 2015

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.

• 대한임상독성학회지
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• 제18권2호
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• pp.51-56
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• 2020

Purpose: Acute nicotine poisoning by liquid nicotine in electronic cigarettes is becoming an increasing problem worldwide. The current systematic review aimed to determine the harm of acute nicotine poisoning by reviewing published case reports. Methods: An online literature search with PubMed, Embase, Cochrane Library, and KoreaMed database was performed to identify relevant studies addressing acute nicotine poisoning with electronic cigarettes. Two investigators searched the case reports written in English or Korean. Results: Twenty-six cases were included in this study. The routes of intoxication included ingestion in 18 cases, intravenous injection in three cases, subcutaneous injection in two cases, and ocular exposure in two cases. Ten cases had a cardiac arrest, and seven of them died. Seven out of 12 cases with intentional poisoning had a cardiac arrest. Nine children under 18 years were reported, and three of them had a cardiac arrest. Sixteen cases without a cardiac arrest recovered well, except for one case with sudden sensorineural hearing loss. Conclusion: The authors reviewed the risks of electronic cigarette liquid in terms of acute poisoning through a systematic review. The nicotine solution of an e-cigarette can be life-threatening in cases of acute poisoning. Therefore, active emergency treatment with early recognition is necessary. In addition, various management methods and regulations for preventing acute nicotine poisoning, such as restriction of distribution and nicotine concentration, should be considered.

• Korean Journal of Radiology
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• 제20권5호
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• pp.823-829
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• 2019

Objective: To summarize the high-resolution computed tomography (HRCT) and magnetic resonance imaging (HRMRI) features of duplicated internal auditory canals (DIACs). Materials and Methods: Ear HRCT data of 64813 patients with sensorineural hearing loss (SNHL), obtained between August 2009 and November 2017, were reviewed. Among these patients, 12 (13 ears) were found to have DIACs, 9 of whom underwent HRMRI. Their images were evaluated by two otoradiologists. Results: The rate of occurrence of DIAC among SNHL patients was 0.019% (12/64813). The internal auditory canals of 13 ears were divided into double canals by complete (n = 6) and incomplete (n = 7) bony septa, with varied orientations ranging from horizontal to approximately vertical. All of the anterosuperior canals extended into the facial nerve (FN) canal, except for 1, which also extended to the vestibule. The posteroinferior canals ended in the cochlea and vestibule, except for 2, which also connected to the FN canals. Magnetic resonance images revealed that 77.8% (7/9) and 22.2% (2/9) of vestibulocochlear nerves (VCNs) were aplastic and hypoplastic, respectively. Furthermore, 88.9% (8/9) of FNs were normal, except for 1, which was hypoplastic. All of the affected ears also had other ear anomalies: a narrow, bony cochlear nerve canal was the most common other anomaly, accounting for 92.3% (12/13). Malformations of other systems were not found. Conclusion: Double-canal appearance is a characteristic finding of DIAC on HRCT, and it is usually accompanied by other ear anomalies. The VCN usually appears aplastic, with a normal FN, on HRMRI.

• 대한기관식도과학회:학술대회논문집
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• 대한기관식도과학회 1976년도 제10차 학술대회연제 순서 및 초록
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• pp.85.3-86
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• 1976

돌발성난청은 만약청력이 구조될 가망이 있으면 즉각적인 검사와 치료가 필요하다. 이것은 이과적 비상사태이며 또 진단의 도전자이다. 감각신경성돌발성난청은 광범위한 종류의 병인으로 생길 수 있다. 종합적인 정밀검사를 곧 시행하여 치료를 지체없이 시작해야만 될 것이다. 감각신경성난청환자에 대해서 아무것도 할 것 없다는 관념은 버려야 되겠다. 돌발성난청을 일으키는 어떤 병인은 치료에 순응 않거나 또는 다만 일부만 정상회복이 가능하다. 그러나 그냥 두면 조금은 회복되거나 또는 스스로는 전연 회복되지 않고, 적절한 치료에는 반응하는 병인들도 있다. 이 병인들을 확인하여 그 처치에 대하며 전심 연구하는 것은 긴요하다. 연령 성별의 비율 및 병변의 편측 또는 양측성은 그 원인에 관련되며, 모은 환자군의 형에 의해서 다르다. 돌발성난청은 개별적으로는 드므나, 모이면 흔한데 외래신이과환자의 약 2.5%에 이르렀으며, 약 70%는 편측성이였다. virus, 세균 및 treponema 감염성은 약 30%였고, 약 16%는 cochlea의 혈관성병변에 의해서였다. 거의 22%는 원인불명(idiopathic)으로 이것은 청년층에서 주로 발생하였으며, 감각성이거나 신경성이였다. 12%는 외상성이고, 9%는 이중독성이였다. 기타가 11%였다. 이대중요요소는 병변의 부위와 청력장해의 기간인데 일찍 진단하여 치료하면 그만큼 치료반응이 좋다. 동시에 원인, 병리 및 치료에 대한 고찰을 더 하였다.

• 대한장애인치과학회지
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• 제9권1호
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• pp.42-45
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• 2013

저자는 de Grouchy 증후군을 가진 4세 여자 환아에 대한 임상적 및 방사선학적 관찰을 통해 다음과 같은 지견을 얻었다. 1. 환아는 de Grouchy 증후군의 증상인 심장 및 발가락의 기형, 근긴장의 저하, 뇌량의 부분적인 무형성, 시각 장애와 청각 장애, 지적 능력의 저하, 성장 발달의 지연 등을 나타낸다. 2. 환아의 구강 및 두개악안면 소견으로 상악골 열성장과 전치부 반대교합을 보이며, 불량한 구강 위생으로 인한 다발성 치아우식증이 관찰된다. 3. 환아의 구강 위생 관리 및 치료 부위의 유지를 위하여 주기적인 치과 검진이 필요하며, 상악골 열성장과 전치부 반대교합을 개선하기 위해 추후 교정 치료가 필요할 수 있다.