• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권4호
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• pp.392-399
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• 2019

Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and self-mutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.

• 혜화의학회지
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• 제13권1호
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• pp.47-59
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• 2004

Objectives & Methods: We investigated 28 books to study etiology and pathology of Son-Bal Jeorim. Result and Conclusion 1. The eiology of Son-Bal Jeorim is same as it of Bee Jeung(痺症). 2. Generally speaking, the cause of Bee Jeung was distributed Wind(風), Coldness(寒), Wetness (濕) of meridian. Bee Jeung can be devided into SilBi(實痺) and HeoBi(虛痺). In SilBi(實痺) there are PungHanSeupBi(風寒濕痺) and YeolBi(熱痺). In HeoBi(虛痺), there are GiHyeolHeoBi(氣血虛痺), EumheoBi(陰虛痺) and YangHeoBi(陽虛痺). 3. Son-Bal Jeorim belong to peripheral neuropathy in western medicine. 4. Syndrome of acute motor paralysis with variable disturbance of sensory and autonomic function, subacute sensorymotor paralysis, syndrome of chronic sensorimotor polyneuropathy, neuropathy with mitochondrial disease, syndrome of mononeuropathy or nerve plexusopathy. 5. Peripheral neuropathy is caused by carpal tunnel syndrome, diabetic neuropathy, uremic neuropathy, hepatic neuropathy, hypothyroid neuropathy, hyperthyroid neuropathy, neuropathy due to malnutrition, neuropathy due to toxic material, neuropathy due to drug, paraneoplastic neuropathy, hereditary neuropathy, etc. 6. Cerebral apoplexy, myelopathy, peripheral circulatory disturbance, anxiety syndrome cause symptoms of peripheral neuropathy

• 대한족부족관절학회지
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• 제13권2호
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• pp.203-206
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• 2009

We experienced a case of congenital insensitivity to pain with anhidrosis mimicking a chronic osteomyelitis of the talus, with recurrent ankle swelling and intermittent fever. He was misdiagnosed as low virulence osteomyelitis at other hospital in annual recurrence for 3 years. A Charcot joint in children is a very rare condition and diagnosis should be made in a careful approach.

• Journal of Genetic Medicine
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• 제14권2호
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• pp.71-74
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• 2017

Mutations in the DNA methyltransferase 1 gene (DNMT1) were reported to cause two phenotypes: OMIM 604121 and OMIM 614116. The first phenotype includes autosomal dominant cerebellar ataxia, deafness, and narcolepsy, which were reported to be caused by mutations in exon 21. The second phenotype includes hereditary sensory and autonomic neuropathy type 1E, which was suggested to be caused by mutations in exon 20 and 21. In this article, we report a novel heterozygous missense variant c.898A>C, p.(Lys300Gln) in exon 12 of DNMT1 in a young woman who presented with pure cerebellar ataxia. This report indicates that a mutation in exon 12 may lead to pure cerebellar ataxia. Another possibility is that the patient is currently in an early stage of the disease, and as the disease progresses, she will have more manifestations. To confirm or exclude this possibility, a subsequent follow-up study reporting the disease progression in this patient may be needed. Further reports of cases with the same mutation are needed to confirm the phenotype of this mutation.

• 대한정형외과학회지
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• 제54권5호
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• pp.463-468
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• 2019

선천성 무통증과 무한증(congenital insensitivity to pain with anhidrosis, CIPA)은 감각신경계와 자율신경계가 이환되는 질환으로 상염색체 열성으로 유전되는 드문 질환이다. 우리 환자는 방치된 원위 대퇴골 골절로 내원한 5세 여아로 추시 도중 시행한 방사선 사진에서 과도한 가골과 가관절 소견을 보였으며, 손가락의 절단, 반복적인 불명열의 과거력을 갖고 있었다. 근전도/신경전도 검사에서는 이상 소견이 관찰되지 않았고, 정량적 발한 축삭 반사검사에서는 한선의 분비 기능이 거의 없는 소견을 보여 이를 바탕으로 CIPA로 진단하였다. 매우 드문 질환이고 감각자율신경계 질환이기 때문에 정형외과 의사가 CIPA 환자를 만날 확률은 매우 낮지만 본 증례의 경우처럼 정형외과 의사가 CIPA를 처음으로 진단하는 의사가 될 수도 있으므로 그 가능성을 염두에 두어야 하겠다.