• Journal of Korean Neurosurgical Society
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• 제52권3호
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• pp.261-263
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• 2012

The experience of pediatric deep brain stimulation (DBS) of the globus pallidus internus (GPi) in the treatment of early-onset DYT1 generalized dystonia is still limited. Here, we report the surgical experience of bilateral GPi-DBS under general anesthesia by using microelectrode recording in a 7-year-old girl with early-onset DYT1 generalized dystonia. Excellent improvement of her dystonia without neurological complications was achieved. This case report demonstrates that GPi-DBS is an effective and safe method for the treatment of medically refractory early-onset DYT1 generalized dystonia in children.

• 대한한방내과학회지
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• 제45권2호
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• pp.208-218
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• 2024

We report a case of generalized dystonia that developed from oromandibular dystonia and improved following Korean medicine treatment. The patient was hospitalized for 18 days and treated with herbal medicine, mainly Hyeongbangsabaek-san and Soyangbowi-tang, acupuncture, electroacupuncture, pharmacopuncture, cupping, and moxibustion. To evaluate the clinical effects of the treatment, we used the Unified Dystonia Rating Scale (UDRS) and Global Dystonia Severity Rating Scale (GDS) and checked dyskinesia occurrence in a diary recorded by the patient's guardian. After 18 days of hospitalization, the UDRS for the trunk, upper extremities, and lower face improved by more than 50%, and the GDS for the whole region, except the larynx and lower face, also improved. In addition, the maximum duration of dystonia decreased from 6 hours to 3 hours, and the pain and numbness associated with dystonia disappeared. This case suggests that Korean medicine treatment is effective in treating generalized dystonia.

• 대한한방내과학회지
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• 제42권2호
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• pp.152-164
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• 2021

Objective: This case reports on the effect of traditional Korean medicine (TKM) treatment in a patient with psychogenic dystonia. Methods: A patient with generalized tremor and gait disturbance diagnosed as psychogenic dystonia was treated with Yokukan-san-gami, Jakyakgamcho-tang, Yikgeebohyul-tang, acupuncture, moxibustion, and cupping for 6 weeks. Symptom improvement was evaluated with the unified dystonia rating scale (UDRS) and the Toronto Western spasmodic torticollis rating scale (TWSTRS). Results: After 6 weeks of TKM treatment, the UDRS and TWSTRS decreased, and the patient's clinical symptoms, including generalized tremor and gait disturbance, improved. Conclusions: This case shows that TKM treatment may be effective for improving psychogenic dystonia.

• Clinical and Experimental Pediatrics
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• 제45권10호
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• pp.1278-1282
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• 2002

저자들은 경련 발작후 퇴행성 발달 지연과 무도증 양상의 운동을 보이는 13개월 여아를 두부 자기공명 검사와 소변 유기산 검사를 이용하여 국내 최초로 glutaric aciduria type 1 1례로 진단하였기에 보고하는 바이다.

• 대한유전성대사질환학회지
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• 제15권3호
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• pp.118-126
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• 2015

Background and objectives: A deficiency of BH4 (tetrahydrobiopterin) not only causes the classical phenylketonuric phenotype, but also is the source of neurological signs and symptoms due to impaired syntheses of L-Dopa and serotonin. The treatment of BH4 deficiency usually consists of replacement with BH4 and the neurotransmitters. We performed this study to finding out long-term follow-up clinical symptoms and prognosis of BH4 deficiency. Methods: Clinical and biochemical, genetic analysis were done retrospectively from January 1999 to July 2015 in Soonchunhyang University Hospital. Results: In our study, total 207 patients were confirmed to hyperphenylalaninemia. Among them, 10 patients were BH4 deficiency. 9 patients were 6-pyruvoyl-tetrahydropterin (PTPS) deficiency and one patient was dihydropteridine reductase (DHPR) deficiency. The patients who received delayed treatment, most of our patients suffered from severe psychomotor retardation, hypotonia and seizure. c.259C>T mutation was identified most commonly in PTPS gene analysis. A patient with DHPR deficiency had a mental retardation, dystonia, seizure. His seizure semiology was dialeptic feature. His EEG showed generalized spike wave patterns. All patients had treated with tolerate L-Dopa, BH4 and 5-hydroxytryptophan. Most of the early treated patients have a good tolerance for drugs well. But some patients had neurologic symptoms, despite early detection and treatment. Conclusion: BH4 deficiency patients who had delayed treatment tend to have severe psychomotor problem and neurologic deficits.