• Journal of Korean Neurosurgical Society
• /
• v.52 no.3
• /
• pp.261-263
• /
• 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.

• The Journal of Internal Korean Medicine
• /
• v.45 no.2
• /
• pp.208-218
• /
• 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.

• The Journal of Internal Korean Medicine
• /
• v.42 no.2
• /
• pp.152-164
• /
• 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
• /
• v.45 no.10
• /
• pp.1278-1282
• /
• 2002

Glutaric aciduria(type 1) is characterized clinically by progressive dystonia and dyskinesia in childhood, pathologically by degeneration of caudate and putamen, biochemically by tissue deficiency of glutaryl-CoA dehydrogenase(GCDH), and is transmitted as an autosomal recessive traits. Mutations of the GCDH gene on chromosome 19 have been implicated in the causation of glutaric aciduria(type 1). Macrocephaly in infancy and crossing of percentiles for head circumference are real clues to early diagnosis. Acute neuroregression of dystonia following an initial phase of normal or almost normal development is a common mode of presentation, at times preceded by seizures. We experienced a case of glutaric aciduria(type 1) in a 13-month old girl. She was admitted due to development delay and choreoasthetoid movememt that developed after generalized tonic-clonic type seizures. She was diagnosed as having glutaric aciduria(type 1) based on brain MRI and urine organic acid analysis finding.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.15 no.3
• /
• pp.118-126
• /
• 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.