• Clinical and Experimental Pediatrics
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• v.46 no.9
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• pp.934-938
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• 2003

Canavan disease, also known as van Bogaert-Bertrand disease, is a rare autosomal recessive disorder characterized by early an onset and a progressive spongyform degeneration of the brain, associated with an edema of the central nerve system, intramyelinic swelling and neurologic symptoms. This disorder is most prevalent in people of Ashkenazi Jewish descent but has been observed in other ethnic groups. Patients have severe mental retardation, poor head control, macrocephaly and seizures. Canavan disease is caused by the accumulation of N-acetylaspartic acid(NAA) in the brain as the result of a deficiency of aspartoacylase(ASPA) activity. Most children are reported to have the infantile form, becoming symptomatic between three and six month of age, after unremarkable prenatal and perinatal course. We experienced a case of Canavan disease in a six day old female newborn baby, associated with seizure, degeneration of brain white matter and markedly elevated urine N-acetylaspartic acid(NAA) level. So, we report the case with a brief review of the related literature.

• Journal of Chest Surgery
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• v.23 no.6
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• pp.1146-1151
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• 1990

Supravavular aortic stenosis is a congenital narrowing of the ascending aorta just distal to the level of the origins of the coronary arteries, that may be localized or diffuse. Five patients with supravalvular aortic stenosis were operated upon between July, 1986 arid June, 1990. Four of these patients were William`s syndrome [mental retardation, elfin face], and one was isolated supravalvular aortic stenosis. Preoperative diagnosis of the supravalvular aortic stenosis was made by left side cardiac catheterization and angiocardiography. There are three types of supravalvular aortic stenosis such as membranous, hourglass and hypoplastic. Four of our patients were of hourglass type, and one was hypoplastic type. Patch aortoplasty was performed in all cases. Preoperative systolic gradients ranged from 45 to 1SO mmHg [average 102.6 mmHg]: postoperative gradients ranged from 0 to 75 mmHg [average 39 mmHg]. The patient of hypoplastic type has been suffered from mild exercise intolerance even after the operation, and the postoperative echocardiography revealed the systolic gradient of 100 mmHg [preoperative 180 mmHg]. The results of surgery for hourglass type were excellent. But the patient with hypoplastic form would be benefited from some modifications of the operation.

• Journal of The Korean Dental Society of Anesthesiology
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• v.7 no.1
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• pp.18-21
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• 2007

Pelizaeus-Merzbacher disease (PMD) can be defined as an X-linked recessive leukodystrophy that is caused by a mutation in the proteolipid protein gene on chromosome Xq22. PMD is one of a group of progressive, degenerative disorders of the cerebral white matter known as the leukodystrophies. Due to the progressive nature of the disorders and their devastating effects on the central nervous system, these children frequently require anesthesia during imaging procedures such as MRI or during various surgical procedures. Anesthetic concerns in theses cases include high prevalence of seizure disorders, gastroesophageal reflux with the risk of aspiration, airway complications related to poor pharyngeal muscle control and copious oral secretions, and mental retardation. We report a successful anesthetic management in a patient with PMD for dental procedures.

• Journal of the Korea Convergence Society
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• v.9 no.6
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• pp.235-240
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• 2018

The purpose of this study is to analyze the texts of the mass media reported mainly on the hosting of the Seoul Ferrules and the upcoming Pyeongchang Paralympics in Korea, and to present the interest of the current paralympics and future development directions of the paralympics. First, the broadcasting / communication sector accounted for 21%, and second, the intellectual disability was more than twice as much as the mental retardation. In conclusion, it is expected that positive and continuous reporting and analysis will be needed through the quantitative growth of mass media.

• Tuberculosis and Respiratory Diseases
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• v.48 no.5
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• pp.788-793
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• 2000

Tuberous sclerosis is a rare hereditary anomaly of variable penetrance characterized by mental retardation, epilepsy, and adenoma sebaceum. Pulmonary involvement is uncommon, but, when involved by tuberous sclerosis, it shows characteristic reticulonodular infiltration and cystic changes. Lymphangioleiomyomatosis is a rare disease of unknown cause that affects women of reproductive age. It is characterized by progressive proliferation of smooth muscle in the lung. We experienced one case of pulmonary lymphangioleiomyomatosis associated with tuberous sclerosis in a 26-year-old female patient. This case is reported with a brief review of the literature.

• BMB Reports
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• v.42 no.1
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• pp.6-15
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• 2009

The most common genetic disorder Down syndrome (DS) displays various developmental defects including mental retardation, learning and memory deficit, the early onset of Alzheimer's disease (AD), congenital heart disease, and craniofacial abnormalities. Those characteristics result from the extra-genes located in the specific region called 'Down syndrome critical region (DSCR)' in human chromosome 21. In this review, we summarized the recent findings of the DYRK1A and RCAN1 genes, which are located on DSCR and thought to be closely associated with the typical features of DS patients, and their implication to the pathogenesis of neural defects in DS. DYRK1A phosphorylates several transcriptional factors, such as CREB and NFAT, endocytic complex proteins, and AD-linked gene products. Meanwhile, RCAN1 is an endogenous inhibitor of calcineurin A, and its unbalanced activity is thought to cause major neuronal and/or non-neuronal malfunction in DS and AD. Interestingly, they both contribute to the learning and memory deficit, altered synaptic plasticity, impaired cell cycle regulation, and AD-like neuropathology in DS. By understanding their biochemical, functional and physiological roles, we hope to get important molecular basis of DS pathology, which would consequently lead to the basis to develop the possible therapeutic tools for the neural defects in DS.

• Journal of Genetic Medicine
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• v.2 no.2
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• pp.49-51
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• 1998

Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report, we performed amniocentesis for the chromosome analysis on a 25-year-old pregnant woman at 16 weeks of gestation whom we suspected of Edward's syndrome by the triple test of maternal serum and ultrasonography. The result of analysis revealed a karyotype of the fetus with 46,XY,del(4)(p15) by trypsin Giemsa's banding technique. With the result, we were able to diagnose the fetus as having WHS. As such, after therapeutic termination of the pregnancy, we confirmed WHS through the sampling of tissue by both trypsin Giemsa's banding and fluorescence in situ hybridization (FISH) method. To determine the origin of the WHS, we further tested the karyotypes of the parents. As parental karyotypes were found to be normal, we determined the case of the fetal WHS to be de novo.

• Clinical and Experimental Pediatrics
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• v.59 no.6
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• pp.276-279
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• 2016

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that revealed a deletion mutation in the ALDH3A2 gene. An ALDH3A2 gene mutation results in dysfunction of the microsomal enzyme fatty aldehyde dehydrogenase and impaired metabolism and accumulation of leukotriene B4, which is a key molecule and a pro-inflammatory mediator in developing allergic diseases, especially asthma. An increased level of leukotriene B4 has been reported in SLS patients. As far as we are aware, this is the first report of SLS associated with asthma and recurrent pneumonia. In conclusion, pediatricians should be aware of and evaluate patients with SLS for possible associated asthma and allergic disorders.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.3 no.2
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• pp.188-194
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• 2000

Achalasia is very uncommon in children, and cases accompanied with alacrima and adrenal insufficiency is even more uncommon. When these three disorders are seen altogether, it is called triple A syndrome. It is inherited in an autosomal recessive manner and has potentially life-threatening sequelae. So, pediatricians should always consider the possibility of triple A syndrome when seeing children with achalasia. Neurological abnormalities such as autonomic neuropathy, peripheral neuropathy, sensory impairment and mental retardation occasionally accompany. We report a 2-year-old girl who presented with repeated vomiting, short stature and alacrima. Diagnosis of achalasia was made after perfoming esophagogram and endoscopy and was confirmed with esophageal manometry. After pneumatic dilatation, she became asymptomatic.

• Journal of Yeungnam Medical Science
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• v.10 no.2
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• pp.493-505
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• 1993

The congenital cutis aplasia mainly occurs in head, sometimes involving the skull and dura mater. It's cause and the rate of falling ill are not known yet, it is the disease that rate of death is high by the infection, such as, the injured vascular hemorrhange of meningitis. Craniosynostosis is the disease the appears the skull as well as the facial deformity with growing, has from the developmental difficiency, visual distibance, motor disturbance, convulsion to the neurologic impairment of mental retardation, and accompanies the each characteristic deformity following the suture fused. Satisfactory results was achieved by local flap surgery and conservative treatment on the infant, diagnosed as the congenital cutis aplasia, case 1 Also successful treatment experiences of craniosynostosis(oxycephaly, brachycephaly, trigonocephaly, cloverleaf deformity) through the frontal bone advancement and the barrel stave asteotomy, were reviewed & pursues and investigates the intracranial volume of before and after of surgery, and then reports with the literature investigation.