• The Journal of Korea Assosiation for Disability and Oral Health
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• v.14 no.2
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• pp.97-101
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• 2018

Lesch-Nyhan syndrome is a rare X-linked recessive genetic disorder. During purine metabolism, the hypoxanthine guanine phosphribosyl transferase (HGPRT) enzyme is deficient causing phosphoribosyl transferase to accumulate and resulting in excessive uric acid. Clinical symptoms include hypercalcemia, choreoathetosis, spasticity, mental retardation, and self-injury to lips, tongue or fingers. This results not only in pain caused by the self-injury but also secondary infection of the wound site and the esthetic damage of the soft tissue defect. Dental treatments include conservative methods using intraoral appliances such as soft mouthguards, fixed lip bumpers, and occlusal guards, and invasive methods such as extraction of all teeth or forming an artificial anterior open bite. We report two cases of Lesch-Nyhan syndrome patients with self-mutilation behavior; one was treated with a preservative method using a soft mouthguard, and the other was treated with extraction of all teeth.

• The Journal of Korean Academy of Sensory Integration
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• v.21 no.1
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• pp.23-33
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• 2023

Objective : The purpose of this study is was to find ouetermine whether training to applying vibration stimulation to the biceps brachii of children in the late stages of spasticity hemiplegic cerebral palsy can helps to improve the function of the upper extremity. Methods : This The study was conducted on with three children with cerebral palsy, all between the ages of 13 and 15 years. Among the experimental research methods of used with individual subjects, an AB research design using multiple basic baseline individual experimental studies was used, and vibration stimulation was provided to the paralyzed hand during the intervention period. The An evaluation was conducted before and after each session used to measure the function of the upper extremity using was conducted after each session of the Rapael Smart Board and The Jebsen-Tayler hand function test and the Motor Activity Log (MAL) were conducted before and after the experiment. Results : As a result of measuring the smooth The average score and total scores of for using the Rapael Smart Board to measure the upper extremity function in following each therapeutic session using the Rafale smart pegboard showed that, Subject 3 did not showevidenced a no significant change in the average value, and but Subjects 1 and 2 did showed a significant changes in their average values. All three subjects showed significant changes in the Jepson-Taylor hand function test and in the Motor Activity Log test, as evaluated before and after the intervention. Conclusion : Training The using use of vibration stimulation showed a positive effect on in improving upper limb function and exercise in hemiplegia hemiplegic children with who had little experience on using their hemiplegic side.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.24 no.1
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• pp.26-36
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• 2024

Lesch-Nyhan syndrome (LNS) is an Clinical symptoms can range from mild to severe depending on residual enzyme activity and genetic mutations. In Korea, 27 cases of LNS have been reported. We report the results of an 11-year comparative follow-up of two cases of children who visited because of pink diapers, one who died from LNS with no residual enzymes and one case with partial residual enzymes. Case 1: During follow-up, seizures, developmental delay, and regression were observed. The boy experienced insomnia and severe constipation. He exhibited self-mutilating behavior, a grand mal seizure, scoliosis with severe spasticity, truncal hypotonia, choreoathetoid movement, and ataxia. After prolonged emaciation, staghorn calculi, and recurrent pneumonia, the patient died suddenly at the age of 11 years. Genetic testing revealed a hemizygous HPRT1 variant (c.151C>T (p.Arg51Ter)). Uric acid level was 10.5 mg/dL (normal range: ~3.5-7.9) and HPRT activity 0.02 nmol/hr/spot (10-23.8 nmol/hr/spot). Case 2: During follow-up, the patient remained underweight. He has normal intelligence attending primary school. Self-mutilation symptoms were not observed. Regular renal ultrasonography did not reveal urolithiasis. The patient had a hemizygous HPRT1 variant (c.35A>C (p.Asp12Ala)). Uric acid level and HPRT activity were 11 mg/dL and 0.56 nmol/hr/spot. Pink diapers after the neonatal period and severe protein aversion, neurological problems, and kidney stones, differentiation for LNS is necessary. When suspected, serum uric acid levels, HPRT enzyme activity, and molecular biological tests may be helpful in predicting the prognosis of LNS.