• Journal of Korean Neurosurgical Society
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• 제29권2호
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• pp.188-195
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• 2000

Objective : Essential tremor(ET) is the most common movement disorder, however, there has been little agreement in the neurologic literature regarding diagnostic criteria for ET. Familial ET is an autosomal dominant disorder presenting as an isolated postural tremor. The main feature of ET is postural tremor of the arms with later involvement of the head, voice, or legs. In previous studies, it was reported that ET susceptibility was inherited in an autosomal dominant inheritance. As previous results, it would suggest that ET might be associated with defect of mitochondrial or nuclear DNA. Recent studies are focusing on molecular genetic detection of movement disorders, such as essential tremor and restless legs syndrome. Moreover, authors have analysed mitochondrial DNA(mtDNA) from the blood cell of positive control(PC) and ET patients via long and accurate polymerase chain reaction(LA PCR). Materials & Methods : Blood samples were collected from PC and 9 ET patients. Total DNA was extracted twice with phenol followed by chloroform : isoamylalcohol. For the analysis of mtDNA, LA PCR was performed by mitochondrial specific primers. Results : With this technique, deletions of large quantities were detected within several regions of mtDNA in ET patients except for D-loop and CO I regions. Conclusion : The authors believe that ET is a genentic disorder with deficiency of mitochondrial DNA multicomplexes and mitochondiral dysfunction could be one of major causative factors of ET. Mitochondrial dysfunction may play an important role in the pathogenesis and possibility of disease progression among familial group with ET patients.

• Annals of Clinical Neurophysiology
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• 제4권1호
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• pp.70-73
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• 2002

Acute autonomic neuropathy is a rare disease. Since the first case was reported by Young et.al., in 1969, a number of similar cases have been described, with some variation of the accompanied neurologic deficits. Acute autonomic and sensory neuropathy(AASN) is characterized by the acute onset of autonomic dysfunction and sensory disturbances. A 16-year-old girl experienced high fever($40^{\circ}C$) and erythematous rash on whole trunk and face followed by pain and sensory loss over the whole body, dysphagia, ataxia, urinary retention, and postural hypotension. There was no evidence of limb weakness. The electrophysiologic studies of this patient revealed sensory polyneuropathy and the various autonomic function test showed autonomic dysfunction. The recovery of her autonomic and sensory symptoms is incomplete, three months after the onset of the symptoms. The etiology of the acute autonomic and sensory neuropathy is not known. Most previous authors have suggested the dysautonomia may be an acute immunological damage to peripheral fibers of the autonomic nervous system. We report a case of acute autonomic and sensory neuropathy.

• 생물정신의학
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• 제9권2호
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• pp.103-111
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• 2002

Neurocognitive research focusing on cognitive deficits in Depression has resulted in several important but yet potentially contradictory findings. Much literature documents the presence of significant neurocognitive impairments in depressive patients. Studies have shown that dysthymic disorder patients demonstrate a diffuse pattern of cognitive impairment which is frequently indistinguishable from that of focal braindamaged patients. Some reports have suggested that there is a focal pattern of deficit, such as anterior cingulate dysfunction, frontal lobe impairment, or dysfunction of the temporal-limbic cortex. The aim of this study is to evaluate the neurocognitive functions in dysthymic disorder patients, and to compare the functions with those of major depressive disorder patients. The subjects are 17 dysthymic disorder patients. And their neurocognitive functions are compared with those of 23 major depressive episode patients. Patients with a history of neurologic disease, alcohol dependence, substance abuse and mental retardation are excluded. They are assessed with a part of Vienna Test System which is computerized neurocognitive function tests and can evaluate attention, eductive ability, reproductive ability, visuoperceptual analysis, vigilance, visual immediate memory, the speed of information-processing, judgement, and fine motor coordinations. There are no other specific difference between two groups, except the result of cognitrone test. This study provides information about the neurocognitive functions and some difference between major depressive disorder patients and carefully diagnosed dysthymic disorder patients.

• Archives of Plastic Surgery
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• 제34권6호
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• pp.792-795
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• 2007

Purpose: Scoliosis is a multifactorial disorder caused by genetic, biochemical, developmental, neuromuscular factors and causes complex deformities which include skeletal deformity, pain, cardiovascular dysfunction, motor function disorder. Until now, the treatment of scoliosis have been focused on orthopedic correction, preservation of cardiopulmonary and neurologic function. But recently, as aesthetic demands increases, the needs for the correction or improvement of the trunk and extremity contour does. So, the correction of soft tissue contour deformity can be a new concept for the treatment of scoliosis. Methods: We corrected a deformed contour with prefabricated silicone implant in a scoliosis patient who had been operated for orthopedic correction previously. Submuscular pocket was made under trapezius and latissimus dorsi muscle. Silicone implant was placed in the pocket and fixed to thoracolumbar fascia with sutures. Results: We had a satisfactory results for the correction of contour deformity. There was no significant complication. Conclusion: Silicone implant is a new trial for the correction of scoliosis contour deformity. This method is simple, safe and brings on satisfactory results.

• Journal of Korean Neurosurgical Society
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• 제59권3호
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• pp.187-191
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• 2016

Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

• Pediatric Infection and Vaccine
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• 제5권2호
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• pp.308-312
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• 1998

Mycoplasma pneumoniae infection is usually confined to the respiratory tract but it can cause a variety of extrapulmonary manifestations such as rashes, myalgia, hemolytic anemia, cerebral infarction, transverse myelitis, cerebellar ataxia, Guillain-Barre syndrome and meningoencephalitis. Neurologic complications of Mycoplasma pneumonia have been rarely reported until now. Cerebral infarction as a complication of mycoplasma infection in children has been very rarely reported. In our case, in a young girl with M. pneumoniae infection, a cerebral infarct resulted in persistent and significant neurological dysfunction. We report a 11-year-old girl with cerebral infarction associated with clinical and serologic evidence of Mycoplasma infection.

• The Korean Journal of Pain
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• 제22권1호
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• pp.92-95
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• 2009

Transverse myelitis is a focal inflammatory disorder of the spinal cord characterized by motor, sensory, and autonomic dysfunction. A 41-year-old man with transverse myelitis and no pre-existing neurologic disease presented with hypesthesia, numbness, weakness in the both lower extremities, back pain, decreased libido, constipation, and dysuria. A MRI test showed intramedullary high signal intensity between T4 and T8 on a T2-weighted image. After high-dose intravenous methylprednisolone and oral prednisolone therapy, he showed facial swelling and acneiform eruption. Therefore, we injected 40 mg methylprednisolone via an epidural route. A 7-dose serial treatment improved most symptoms. A follow up MRI showed radiological improvement. We report a case of transverse myelitis treated by epidural steroids.

• Childhood Kidney Diseases
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• 제11권2호
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• pp.288-293
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• 2007

TTP는 발열, 미세혈관용혈성빈혈, 혈소판 감소, 신경계 장애, 다양한 정도의 신기능 이상을 특징으로 하는 임상 증후군으로 SLE 등의 자가면역질환과 드물게 동반되어 발생한다[1]. TTP의 증상은 SLE의 임상증상과 유사하며, 두 질환이 동반되어 발생할 수 있어 이들의 감별은 쉽지 않다. 그러나 치료에 있어 두 질환의 감별은 중요함으로 별리기전에 대한 충분한 연구가 필요하다[1-4]. 저자들은 청소년기 두 명의 남아에서 TTP와 SLE가 동시에 발생한 예를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제2권2호
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• pp.164-168
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• 1999

Background: Wilson disease (WD) is an autosomal recessive disorder of copper transport and characterized by degenerative changes in the brain, liver dysfunction, and Kayser-Fleischer rings due to toxic accumulation of copper. Since the identification of Wilson disease gene (ATP7B), more than 80 mutations have been detected among the different ethnic groups. Methods: Twenty three children with Wilson disease were included in this study. They were all diagnosed by low serum ceruloplasmin and increased 24 hour urinary copper excretion with characteristic clinical findings. We analysed WD gene mutation by assessing the nucleotide sequence of exon 7, 8, 9 and 10 including intron-exon boundaries of ATP7B gene from genomic DNA. Results: Arg778Leu mutation was identified in 16 WD patients; three were homozygous and 13 were heterozygous for this mutation. Of the 46 alleles, 19 alleles had a Arg778Leu mutation (19/46=41%). Homozygote patients had neurologic forms of WD. Arg778Leu mutation was not found among 50 normal healthy persons. Conclusion: Arg778Leu mutation is a common mutation in Korean WD gene. Arg778Leu mutation screening might be used as a useful supplementary diagnostic test in some patients to confirm Wilson disease in Korea.

• Archives of Plastic Surgery
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• 제49권3호
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• pp.427-439
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• 2022

Peripheral nerve injuries (PNIs) often present with variable symptoms, making them difficult to diagnose, treat, and monitor. When neurologic compromise is inadequately assessed, suboptimal treatment decisions can result in lasting functional deficits. There are many available tools for evaluating pain and functional status of peripheral nerves. However, the literature lacks a detailed, comprehensive view of the data comparing the clinical utility of these modalities, and there is no consensus on the optimal algorithm for sensory and pain assessment in PNIs. We performed a systematic review of the literature focused on clinical data, evaluating pain and sensory assessment methods in peripheral nerves. We searched through multiple databases, including PubMed/Medline, Embase, and Google Scholar, to identify studies that assessed assessment tools and explored their advantages and disadvantages. A total of 66 studies were selected that assessed various tools used to assess patient's pain and sensory recovery after a PNI. This review may serve as a guide to select the most appropriate assessment tools for monitoring nerve pain and/or sensory function both pre- and postoperatively. As the surgeons work to improve treatments for PNI and dysfunction, identifying the most appropriate existing measures of success and future directions for improved algorithms could lead to improved patient outcomes.