• Clinical and Experimental Pediatrics
• /
• v.62 no.2
• /
• pp.55-61
• /
• 2019

Purpose: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK ) gene. Our study aimed to determine whether the age of onset is correlated with CTG repeat length in a population of pediatric patients with DM1. Methods: We retrospectively identified 30 pediatric patients with DM1 that underwent DMPK testing, of which the clinical data of 17 was sufficient. The cohort was divided into 2 subgroups based on the clinical phenotype (congenital-onset vs. late-onset) and number of CTG repeats (<1,000 vs. ${\geq}1,000$). Results: We found no significant difference between the age of onset and CTG repeat length in our pediatric patient population. Based on clinical subgrouping, we found that the congenital-onset subgroup was statistically different with respect to several variables, including prematurity, rate of admission to neonatal intensive care unit, need for respiratory support at birth, hypotonia, dysphagia, ventilator dependence, and functional status on last visit, compared to the late-onset subgroup. Based on genetic subgrouping, we found a single variable (poor feeding in neonate) that was significantly different in the large CTG subgroup than that in the small CTG subgroup. Conclusion: Clinical variables exhibiting statistically significant differences between the subgroups should be focused on prognosis and designing tailored management approaches for the patients; our findings will contribute to achieve this important goal for treating patients with DM1.

• The Korean Journal of Pain
• /
• v.6 no.2
• /
• pp.275-279
• /
• 1993

Reflex sympathetic dystrophy is a syndrome characterized by persistent, burning pain, hyperpathia, allodynia & hyperaesthesia in an extremity, with concurrent evidence of autonomic nervous system dysfunction. It generally develops after nerve injury, trauma, surgery, et al. The most successful therapies are directed towards blocking the sympathetic intervention to the affected extremity by regional sympathetic ganglion block or Bier block with sympathetic blocker; other traditional treatments include transcutaneous electrical stimulation, immobilization with cast & splint, physical therapy, psychotherapy, administration of sympathetic blocker, calcitonin, corticosteroid and analgesic agents. The purpose of this report is to evaluate and describe the effects of magnetic resonance following unsatisfactory results with traditional treatments of RSD. A 17 year old female patient, 1 year earlier, had received excision and drainage of pus at the right femoral triangle due to an injury caused by a stone. Afterwards, she experienced burning pain, knee joint stiffness, and muscle dystrophy of the right thigh, especially when standing and walking. Despite a year of number of traditional treatments such as: lumbar sympathetic block, continuous epidural analgesia, transcutaneous electrical stimulation, & administration of predisolone, her pain did not improve. Surprisingly, the patients was able to walk free from pain and difficulty after just one application of magnetic resonance. The patient has been successfully treated with further treatment of two to three times a week for approximately ten weeks. More recently, magnetic resonance has been demonstrated to produce effective results for the relief of pain in a variety of diseases. From our experiences we recognize magnetic resonance as a therapeutic modality which can provide excellent results for the treatment of RSD. It has been suggested that polysynaptic reflex which are disturbed in RSD may be modulated normally on the spinal cord level through the application of magnetic resonance.

• Journal of the Korean Child Neurology Society
• /
• v.26 no.4
• /
• pp.189-196
• /
• 2018

Purpose: Floppy infants or congenital hypotonia indicates decreased muscle tone in infants secondary to abnormalities of the central or the peripheral nervous system, or both. Previous literature classified its causes as those attributable to a central vs. peripheral origin; however, recent studies have introduced a newer classification describing a combined origin. We invenstigated floppy infants by applying the new etiological classification and reviewed the most common etiologies based on the age of presentation. We additionally reviewed the clinical characteristics, diagnoses, and the developmental outcomes in these infants. Methods: We retrospectively reviewed the electronic medical charts and recruited 116 infants diagnosed with floppy infant syndrome between January 2005 and December 2016 at Severance Children's Hospital. Among these infants, 66 with a confirmed diagnosis were reviewed for the etiological classification. Information regarding developmental outcomes was obtained via phone interviews with the infants' families. Results: Based on the new etiological classification, among 69 infants with a confirmed diagnosis, in 40 (34.5%) this syndrome was of central origin, in 19 (16.4%) of peripheral origin, and in 10 (8.6%) of combined origin. Prader-Willi syndrome, myotonic dystrophy, and spinal muscular atrophy were the most common disorders observed and combined hypotonia showed the poorest developmental outcome. Conclusion: The study states the importance of proper evaluation of etiological diagnosis and optimal intervention for developmental prognosis. The introduction of a new etiological group of combined hypotonia especially emphasizes regular monitoring and timely rehabilitative intervention in patients for the better quality of life in them as well as their caregivers.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.15 no.1
• /
• pp.50-54
• /
• 2019

Muscular dystrophy (MD) is a heterogeneous group of inherited neuromuscular disorders, characterized by progressive muscle weakness. Severity of the disease ranges from mild to severe, and the disease is mostly caused by mutations in a number of genes. These genetic mutations cause lack of proteins which are essential for muscle cell stability. Muscle fibers are gradually replaced by fat and fibrous tissue. The muscles of the head and neck are affected in several types of MD that manifest as altered craniofacial morphology and dental malocclusion. A 3-year-10-month old, 15.0 kg boy with MD presented to Seoul National University Dental Hospital, Seoul, South Korea because of extensive carious teeth. A number of dental caries in primary dentition were identified during clinical oral examination. Due to dental anxiety and underlying systemic disease, general anesthesia was considered. General anesthesia was induced and maintained with intravenous anesthetics, propofol and remifentanil. Caries treatments - resin restoration, pulpectomy, zirconia crown restoration, stainless steel crown restoration - were performed. Under general anesthesia, successful dental procedure was done. Total intravenous anesthesia (TIVA) was performed instead of inhalation anesthesia in order to avoid risk of complications such as malignant hyperthermia and life-threatening rhabdomyolysis. With decreasing muscle function, plaque control becomes more difficult and leads to gingivitis. Especially, the open-mouth posture worsens gingivitis and can leads to malocclusions and problems in swallowing. Regular and periodic dental care is essential for maintaining oral health for patients with MD.

• 대한핵의학회:학술대회논문집
• /
• 1990.04a
• /
• pp.192.2-193
• /
• 1990

• 대한생식의학회:학술대회논문집
• /
• 2005.11a
• /
• pp.110-110
• /
• 2005

• Clinical and Experimental Pediatrics
• /
• v.62 no.6
• /
• pp.244-244
• /
• 2019

• BMB Reports
• /
• v.49 no.2
• /
• pp.69-70
• /
• 2016

Mutations of orthodentricle homeobox 2 (OTX2) in human and mice often cause retinal dystrophy and nyctalopia, suggesting a role of OTX2 in mature retina, in addition to its functions in the development of the eye and retina. In support of this, the number of bipolar cells in Otx2^+/− post-natal mouse retina was found to be significantly lower than normal. Degeneration of the cells becomes greater as the mice age, leading to the loss of vision. Especially, the type-2 OFF-cone bipolar cells, which do not express Otx2 mRNA but carry Otx2 protein, are most sensitive to Otx2 haplodeficiency. Interestingly, this bipolar cell subpopulation imports Otx2 protein from photoreceptors to protect itself from glutamate excitotoxicity in the dark. Moreover, in the bipolar cells, the exogenous Otx2 relocates to the mitochondria to support mitochondrial ATP synthesis. This novel mitochondrial activity of exogenous Otx2 highlights the therapeutic potential of Otx2 protein transduction in retinal dystrophy.

• The Korean Journal of Pain
• /
• v.3 no.2
• /
• pp.165-171
• /
• 1990

The reflex sympathetic dystrophy syndrome (RSDS) consists of sustained burning pain and tenderness, vasomotor instabilitiy, swelling, occasional functional instability, trophic skin change and edema of extremity following trauma, peripheral nerve injury, spinal cord injury, infection, burn and other etiologic factors. The most important thing in RSDS is to start the treatment as soon as the disease was diagnosed. Most patients with RSDS respond dramatically and permanently to sympathetic blocks if treatment is instituted before irreversible trophic changes. The characteristic radiological finding in RSDS is a patchy osteoporosis in the cancellous bone. Periarticular hyperactivity is seen in RSDS by Tc99m bone scan. We have managed 4 cases of RSDS. The methods of management and effects are as follows: 1) In case 1, 28 lumbar sympathetic blocks in both sides were performed. The patient did not complain of pain or tenderness and the limping improved. 2) In case 2, 7 lumbar sympathetic blocks were performed, but we could find only a slight improvement in the symptoms. 3) In case 3, 8 stellate ganglion blocks were carried out. The patient refused the treatment of RSDS because of the lack of rapid improvement. 4) In case 4, total 64 stellate ganglion blocks were carried out; the patient was permanently improved.

• Journal of Genetic Medicine
• /
• v.11 no.1
• /
• pp.31-35
• /
• 2014

Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism and a wide range of secondary features. To date, mutations in 16 genes have been identified as causative factors for BBS. Among them, the BBS1 and BBS10 genes are major disease-causing genes, and each of these gene mutations presents in more than 20% of all BBS patients. Genotype-phenotype correlations have not been observed in BBS, and there can be phenotypic overlap between BBS and other ciliopathies. In Korea, no molecular, genetically confirmed case of BBS has been reported to date. Herein, we describe the case of the first Korean siblings with BBS resulting from 2 BBS10 gene mutations who showed typical clinical phenotypes, including retinal dystrophy, obesity, intellectual disability, cystic tubular disease, and postaxial polydactyly.