• Journal of Genetic Medicine
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• v.21 no.1
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• pp.31-35
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• 2024

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.

• Journal of Gastric Cancer
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• v.12 no.1
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• pp.49-52
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• 2012

Through the advent of surgical techniques and the improvement of laparoscopic tools including the ultrasonic activated scissor, laparoscopic gastrectomy has been increasingly used in far more cases of benign or malignant gastric lesions for the benefit of patients without compromising therapeutic outcomes. Even though possible complications provoked by the ultrasonic activated scissor can be prevented during the procedure with increasing advanced laparoscopic experience and supervision, unexpected late complications after the operations rarely occur. An extremely rare case of left incarcerated diaphragmatic hernia of the transverse colon developed in an 81-year-old female patient as a late complication, 8 months after laparoscopy-assisted total gastrectomy for gastric cancer, with laparoscopy successfully resumed and without the need to sacrifice any portion of the bowel.

• Journal of Physiology & Pathology in Korean Medicine
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• v.16 no.5
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• pp.1075-1078
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• 2002

Objective: The management for the stroke should ,given as soon as possible to be effect. But Patients with stroke symptoms commonly delay many hours before seeking medical attention. We evaluated the factors which are related to the time of hospital arrival after acute stroke. Method: Data were obtained from 317 patients admitted to our hospital within 72 hours of stroke onset. We assessed demographic variables, stoke subtype. referral routes. history of previous stroke, level of consciousness, distance from the place where stroke occurred to hospital, and the time interval between onset of stroke and arrival at the hospital. Results: Mean patient age was 65.99±9.57 years. The mean time interval between onset of stroke and hospital arrival was 17.26±18.69 hours and 128 (40.38%) patients arrived within 6 hours. The patients whoes stoke subtype was infarction, who arrived our hospital by way of other hospital, who had no suffered from previous stroke and who showed no impairement of consciousness was arrived at the hospital late(p<0.05). Conclusion: The majority of patients arrive at the hospital after prolonged delays for multiple reasons, and patients with milder symptoms, for whom treatment might be more effective, were less likely to arrive in time for therapy. Our study suggest that effective education about stroke to the patients and public would be highly necessary.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.22
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• pp.9707-9711
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• 2014

Background: Acute lymphoblastic leukemia (ALL) is a complex disease caused by interactions between hazardous exogenous or/and endogenous agents and many mild effect inherited susceptibility mutations. Some of them are known, but their functional roles still requireinvestigation. Age is a recognized risk factor; children with disease onset after the age of ten have worse prognosis, presumably also triggered by inherited factors. Materials and Methods: The MDR1 gene polymorphisms rs1045642, rs2032582 and MTHFR gene polymorphisms rs1801131 and rs1801133 were genotyped in 68 ALL patients in remission and 102 age and gender matched controls; parental DNA samples were also available for 42 probands. Results: No case control association was found between analyzed polymorphisms and a risk of childhood ALL development. Linkage disequilibrium was not observed in a family-based association study either. Only marginal association was observed between genetic marker rs2032582A and later disease onset (p=0.04). Conclusions: Our data suggest that late age of ALL onset could be triggered by mild effect common alleles.

• Journal of Genetic Medicine
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• v.10 no.2
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• pp.88-93
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• 2013

Alexander disease (ALXD) is a rare demyelinating disease of the white matter of the brain that is caused by a mutation in the glial fibrillary acidic protein (GFAP) gene. The overexpression of GFAP in astrocytes induces a failure in the developmental growth of the myelin sheath. The neurodegenerative destruction of the myelin sheath of the white matter is accompanied by an accumulation of abnormal deposits of Rosenthal fibers in astrocytes, which is the hallmark of ALXD. The disease can be divided into four groups based on the onset age of the patients: neonatal, infantile, juvenile, or adult. Early-onset disease is more severe, progresses rapidly, and results in a shorter life span than late-onset cases. Magnetic resonance imaging and genetic tests are mostly used for diagnostic purposes. Pathological tests of brain tissue for Rosenthal fibers are definitive diagnostic methods. Therapeutic strategies are being investigated. Ceftriaxone, which is an enhancer of glial glutamate transporter (GLT-1) expression, is currently in clinical trials for the treatment of patients with ALXD. To date, there are no clinically available treatments. The cause, pathology, pathophysiology, inheritance, clinical features, diagnosis, and treatment of ALXD will be reviewed comprehensively.

• Journal of mucopolysaccharidosis and rare diseases
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• v.3 no.1
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• pp.9-13
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• 2017

Tandem mass spectrometry and other new technologies for the multiplex and quantitative analysis of dried blood spots have emerged as powerful techniques for the early screening and assessment of newborns for lysosomal storage diseases (LSDs). Screening newborns for these diseases is important, since treatment options, including enzyme replacement therapy or hematopoietic transplantation, are available for some LSDs, such as infant-onset Pompe disease, Fabry disease, some types of mucopolysaccharidoses (MPSs), and Krabbe disease. For these diseases, early initiation of treatment, before symptoms worsen, often leads to better clinical outcomes. Several problems, however, are associated with newborn screening for LSDs, including the development of accurate test methods to reduce low false-positive rates and treatment guidelines for late-onset or mild disease variants, the high costs associated with multiplex assays, and ethical issues. In this review, we discuss the history, current status, and ethical problems associated with the newborn screening for LSDs, including MPSs.

• Journal of Yeungnam Medical Science
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• v.24 no.2
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• pp.322-328
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• 2007

Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle metabolism; it is inherited in an X-linked manner. The OTC catalyzes the third step of the urea cycle, the conversion of ornithine and carbamyl phosphate to citrulline. Deficiency of OTC leads to the accumulation of ammonia, causing neurological deficits. In most affected hemizygote males, OTC deficiency manifests as hyperammonemic coma that often leads to death in the newborn period, and those who recover from the coma may be neurologically impaired due to the sequelae of the hyperammonemic encephalopathy. In some, late-onset manifestations develop. We report a male neonate with early onset OT deficiency that had apnea and was comatous. On mutation analysis using DNA sequencing after polymerase chain reaction (PCR) amplification of the 10 exons, deletions of 10 bases in codon 285, causing a frame shift was detected in exon 8. The mother and a sister were diagnosed as female carriers. Therefore, genetic counseling and the risk assessment could be provided to the family.

• Journal of Genetic Medicine
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• v.21 no.1
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• pp.1-5
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• 2024

Despite advances in the diagnosis and management of rare diseases (RDs), there remains a tendency to overlook adult RD patients. In addition to the considerable number of adult-onset RDs, advances in the diagnosis and management of pediatric RDs have led to an increase in the survival of these patients into adulthood. Adult RDs exhibit distinct features from pediatric counterparts, necessitating careful consideration during medical assessments. Given the extended life expectancy of adult RD patients, precise diagnosis and management strategies can significantly enhance patient outcomes. This review aims to provide an in-depth exploration of the characteristics unique to adult RDs. Special emphasis will be placed on the importance of cascade screening and prenatal genetic testing in the context of adult RDs, highlighting the need for a comprehensive understanding of these aspects in clinical practice.

• Annals of Clinical Neurophysiology
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• v.4 no.1
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• pp.16-20
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• 2002

Background and Objective : Epileptic seizures are frequent complication of lobar hemorrhage. We investigated the factors affecting development of epilepsy following spontaneous lobar ICH. Methods : From January 1986 to July 1999, 114 patients were admitted to Chungnam National University Hospital with spontaneous lobar ICH. We analyzed 75 patients. Excluded were no follow-up(8 patients) and patients died within few days(31 patients). All the patient was followed up at least two years aside from two patients who underwent epileptic seizure and died five and eight months later each. Medical history was obtained through medical record and by telephone interview. Statistical analyses were performed using Chi-square test, Student's t - test, Fisher's exact test. Results : Seizure occurred in 19 patients. As three patients had previous history of seizures, 16 patients(22.2%) showed first onset early- and late-seizures. Early seizure occurred in 14 patients(19.4%). Three out of 14 were heavy alcoholics. Five patients developed late recurrent seizure 61 days to 800 days after the early seizure. Late seizure with no acute seizure occurred in two patients. The types of seizure were diverse as generalized tonic clonic seizure(10), partial seizure with secondary generalization(5), and complex partial seizure(1). The common risk factors for lobar ICH were hypertension(HT), arteriovenous malformation(AVM), and excessive use of alcohol. We could not find any causes in 23 patients. Although size of hematoma, age of onset, sex, incidence of HT or AVM were not different between patients with seizure and without seizure, the history of excessive alcohol drinking was more frequent in patients with seizure. Five patients with late recurrent seizure had ICH involving temporal area. Conclusions : This study suggests that the risk of seizure in patients with lobar ICH was increase in chronic alcoholics and patient with late recurrent seizure had ICH frequently involving temporal area.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.165-170
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• 2015

Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder of urea synthesis in newborns. It is the most common urea cycle disorder and leads to elevated levels of ammonia in the blood. Excessive ammonia can cause various symptoms, including vomiting, lethargy, and coma. Boys have a more serious form of OTC deficiency than girls. If not treated immediately, severe OTC deficiency can lead to neurologic abnormalities, hyperammonemic coma, and death. Because late-onset OTC deficiency, which is more common in girls, presents mild symptoms, it is easy to miss diagnosis and prompt treatment. We describe an 11-month-old girl who presented periodic vomiting, intermittent lethargy, and seizure. She was diagnosed with OTC deficiency by elevated serum ammonia and urine orotic acid levels. Genetic analysis of the OTC gene revealed a missense mutation in exon 5 (c.418G>C). We reported an experience of exact diagnosis and successful treatment of late-onset OTC deficiency in our patient.