• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.2
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• pp.91-94
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• 2017

Hypercementosis is an excessive deposition of secondary cementum on the root of a tooth. It is mostly presented as a solitary lesion or in rare cases as a generalized type, but which is seldom recognized; typically it is discovered during regular dental X-ray. Increased thickness of cementum is not uncommon but generalized hypercementosis on impacted permanent teeth which may cause delayed eruption is rarely reported. This case report discusses a patient with cerebral palsy, epilepsy and mental retardation that presents multiple hypercementosis with delayed eruption. On intraoral examination, multiple retained primary molar teeth were found. As there was no any further symptoms, regular dental checkup had been done for several years. In 2015, a surgical opening was performed in the second molar area, but there was no specific change. Panoramic view showed multiple impacted permanent teeth with increased thickness of roots due to excessive deposition of cementum. Hypercementosis was also observed in the root of the erupted tooth. Several laboratory test results including hormone, urine, complete blood count test were reviewed. The patient was also diagnosed with subclinical hypothyroidism, impaired fasting glucose and had been taken valproic acid($Orfil^{(R)}$) for 10 years. However, none of them clearly explained generalized hypercementosis or delayed eruption. The patient is now 24 years old and regular dental checkups and radiographs are taken to confirm that there is no change in the lesion.

• Journal of the korean academy of Pediatric Dentistry
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• v.26 no.1
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• pp.151-156
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• 1999

Self-injurious behavior is defined as deliberate harm to one's own body without suicidal intent. It usually occurs as head banging or hitting, skin cutting, or finger biting and includes ocular, genital and oral self-mutilation. Lesch-Nyhan syndrome is a rare X-linked recessively inherited disorder, caused by complete absence of hypoxanthin-guanine phosphoribosyl transferase(HPRT) activity. Clinical presentation is characterized by mental retardation, chorea, athetosis, hyperuricemia, uricosuria and self-mutilating behavior. In these patients, the most typical feature is loss of tissue from biting themselves, even though they are not insensitive to pain. The dental management of self-mutilation includes treatment with appliances such as soft mouthguard or lip bumper, extraction of all the teeth, and orthognathic surgery. We report a 25-month-old boy who was a known case of Lesch-Nyhan syndrome and presented with severe self-mutilation wound on his lower lip. Vital pulpectomy and coronal resection was done as a more conservative approach than extracting all primary anterior teeth. Due to maintaining the root portion of the teeth in the bone, it is expected that the normal growth of the alveolar bone will be achieved.

• Journal of Preventive Medicine and Public Health
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• v.32 no.3
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• pp.317-324
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• 1999

Objectives: Since 1991, nationwide massive neonatal screening program for phenylketonuria (PKU) and congenital hypothyroidism have been performed in Korea. As in many other countries, efficiency of this program has not been definitely concluded. For the purpose of evaluation of this program, from the perspective of efficiency, a cost-benefit analysis was carried out. Methods: Costs of the detection and the treatment program were compared with the projected benefit(avoided costs) that results from the prevention of the mental retardation associated with the disorders due to PKU and hypothyroidism. Costs and benefits were discounted at an annual rate of 5%, and duration of life-long labor was assumed to be 30 years. Cost and benefit were estimated based on the detection rates of one case of PKU per 5,572 and one case of congenital hypothyroidism per 32,554 babies screened during 1991-1997. Results: The benefit-cost ratio was 0.418. The sensitivity analysis for the discount rates and labor durations showed that most cost-benefit ratios were lower than one(1.0) except when discount rate was changed to 3% and detection rate to two- or threefold and/or labor duration to 40 years. Conclusion: The result of this study suggested that present program of mass screening for PKU and congenital hypothyroidism could not be justified in terms of efficiency. It doesn't coincide with the results of previous studies in major developed countries, presumably because of difference in detection rates and welfare cost for the disabled.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.2 no.2
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• pp.147-152
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• 2006

Lesch-Nyhan syndrome is rare X-linked genetic disorder involving absence of the enzyme hypoxanthine guanine phosphoribosyl transferase (HGPRT) related to purine metabolism. The deficiency of HGPRT activity leads to an excesscive uric acid production and consequent hyperuricemia. It occurs almost exclusively in males, and the incidence is estimate to be 1/100,000~380,000. Clinical presentation is characterized by developmental delay, mental retardation, choreoathetosis, spastic cerebral palsy, nephrolithiasis, obstructive nephropathy and acute gouty arthritis. A characteristic feature of Lesch-Nyhan syndrome is the appearance of intractable self-mutilation behavior. Self-mutilation behavior is complicated by secondary infection and tissue loss as well as pain. The dental management of self-mutilation includes presertive methods of using appliances such as lip bumper or soft mouthguard and radical methods such as extraction of all teeth or orthognathic surgery. A case of Lesch-Nyhan syndrome patient with self-mutilation and severe lower lip injury is presented. He was treated successfully with soft mouthguard.

• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.1
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• pp.145-149
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• 2009

Sturge-Weber Syndrome is a rare congenital disorder and is characterized by port wine nevus following one or more divisions of trigeminal nerve, ocular involvement(eg, glaucoma) and neurologic involvement(eg, epilepsy, mental retardation). Oral menifestations include unilateral blood vessel expansion of the oral mucosa and gingiva, gingival hyperplasia, giant tooth, ipsilateral large tongue, blood vessel anomaly of maxilla or mandible and abnormal eruption sequence. This case report is about 8-year-old Sturge-Weber Syndrome patient presented violet discoloration on upper gingiva and buccal mucosa, gingival hyperplasia and abnormal eruption sequence. In this case, we performed lingual frenectomy and periodic oral hygiene management, and obtained satisfactory result.

• Journal of Genetic Medicine
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• v.2 no.1
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• pp.17-22
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• 1998

The Lesch-Nyhan syndrome which is caused by the deficiency of hypoxanthine guanine phosphoribosyltransferase is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, mental retardation and compulsive self-injurious behavior. Clinical management of the patients with the Lesch-Nyhan syndrome is frustrating and requires burdensome medical treatment since it cripples the patient and shortens the life span by progression of neurological symptoms, but there are no cures or measures for relieving relentless natural course of the disease yet. Therefore, prenatal diagnosis of the affected fetus is important in genetic counselling for the family at high risk. In this study, four different mutations in the HPRT gene of four probands have been identified in four unrelated families; K215X, Q109X, nt.631 ${\Delta}A$, and nt.289 ${\Delta}GT$. Two mutations among them altered restriction enzyme sites; SpeI for Q109X and MaeI for nt.289 ${\Delta}GT$. Based on their molecular defects, prenatal diagnoses of 3 the fetuses were successfully made between ninth and eleventh week of gestation by polymerase chain reaction (PCR), restriction digestion and DNA sequencing using cDNA obtained from chorionic villus samples (CVS). We predicted the outcome of all fetuses prenatally. Among the three fetuses two were male and one was female according to the identification made by PCR amplification of the sex determining region of the Y chromosome(SRY) gene. Each carried a wild type allele for the corresponding mutant allele. They were also tested postnatally for the mutations to be unaffected.

• Archives of Plastic Surgery
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• v.35 no.3
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• pp.341-344
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• 2008

Purpose: Tuberous sclerosis is an autosomal dominant multisystemic neurocutaneous syndrome characterized by the development of multiple hamartoma distributed through the body, skin, brain, heart, kidney, and lung. The classic triad is seizure, mental retardation, and facial angiofibroma. We experienced a case of a tuberous sclerosis associated with the facial lesion and multiple masses on scalp, forehead, and right lower extremity. Methods: This a 34-year-old male patient had subependymal giant cell astrocytoma in brain and multiple angiomyolipoma in both kidneys. Tangential excision with razor blade and dermabrasion were done on the centrofacial area. We excised other lesions and the mass on scalp was excised and covered with split thickness skin graft. Results: The histopathological finding revealed that the facial lesion was angiofibroma and the others were multiple fibroma. Conclusion: In our case of tuberous sclerosis, we chose the tangential excision to remove the large nodules of angiofibroma, and then dermabrasion was used to smooth the final contour. The patient appeared to have a good results from this treatment modality. But, tuberous sclerosis is an disease that needs long term follow-up to check up the recurrence of skin problem.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.4 no.1
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• pp.21-25
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• 2008

A 33-years-old female pateint with cerebral palsy showing spastic quardriplegia and severe mental retardation was scheduled for dental implant restorations. Before implant surgery we had to take implant CT. But, because of her involuntary motion and communication difficulty, sedation was needed in order to take CT. After 8 hour NPO, propofol infusion sedation with TCI (target controlled infusion) system was administered. The propofol blood concentration of the patient was maintained 2-3 ${\mu}$/ml to keep deep sedation to prevent uncontolled movement. During sedation, we monitored ECG, pulse oximetry, blood pressure, capnometry for patient safety. Oxygen was administered via nasal prong for preventing hypoxemia and to keep airway during sedation some bands were applied to lift mandible. Total duration was 20 minutes for taking CT, and she was discharged from hospital after 30 minute rest without complication.

• Clinical and Experimental Pediatrics
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• v.46 no.5
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• pp.505-509
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• 2003

Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyl transferase(HPRT). We report here on a case of Lesch-Nyhan syndrome in a 1-year, 7-month-old male who presented with frequent vomiting, failure to thrive, and developmental delay. The diagnostic work-up revealed hyperuricemia, hyperuricosuria, and medullary nephrolithiasis. The HPRT activity in the erythrocytes was undetectable with a biochemical assay. We also identified de novo mutation which was a deletion of the 649th base, adenosine, in HPRT gene(649delA) by analysis of cDNA using RT-PCR technique coupled with direct sequencing.

• Clinical and Experimental Pediatrics
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• v.52 no.6
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• pp.701-704
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• 2009

SmithMagenis syndrome (SMS) is a rare disorder with multiple congenital anomalies caused by a heterozygous interstitial deletion involving chromosome 17p11.2, where the retinoic acid-induced 1 (RAI1) gene is located, or by a mutation of RAI1. Approximately 90% of the patients with SMS have a detectable 17p11.2 microdeletion on fluorescence in-situ hybridization (FISH). SMS is characterized by mental retardation, distinctive behavioral features, craniofacial and skeletal anomalies, speech and developmental delay, and sleep disturbances. Although there are some intervention strategies that help individuals with SMS, there are no reported specific interventions for improving the outcome in children with SMS. Here, we report two cases of SmithMagenis syndrome.