• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.4
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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.

• Journal of Haehwa Medicine
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• v.13 no.1
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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

• Journal of Korean Foot and Ankle Society
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• v.13 no.2
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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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• v.14 no.2
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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.

• Journal of the Korean Orthopaedic Association
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• v.54 no.5
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• pp.463-468
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• 2019

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disease that affects the sensory and autonomic nervous system. The patients do not have the ability to sense different sensations, such as pain, which tends to lead to different injuries. In addition, the patients suffer from fluctuations in body temperature due to autonomic involvement. The present case was a five-year-old girl with a neglected distal femur fracture. X-rays taken during the follow-up showed marked callus formation and pseudarthrosis of the distal femur. She had biting injuries of the tongue, auto-amputation of the fingers, some developmental delay and a history of recurrent fever with an unknown origin. The electrodiagnostic study was normal. The quantitative sudomotor axon reflex test revealed markedly reduced postganglionic sudomotor axonal responses at all sites recorded on the left. She was diagnosed with CIPA. As the initial presentation of CIPA involves the musculoskeletal system, orthopedic surgeons should have a high index of suspicion.