• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.4
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• pp.631-639
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• 2009

Ectodermal dysplasia is a genetic disease which shows various congenital dysplasias in tissues differentiated from the ectoderm. As the most common type of the ectodermal dysplasia, hypohidrotic ectodermal dysplasia(HED) shows dysplasia mainly in the hair, fingernails, teeth and the skin. Symptoms are more severe in males than in females and heterozygous females are usually normal showing no symptom. The treatment for these patients differ according to individuals, but since patients can easily become depressed socially and emotionally due to a decrease in mastication and speech function caused by multiple loss of teeth as well as some aesthetic problems, an early treatment is required. In a case, with a 10 years-old boy diagnosed with HED which shows partial edentia of the maxilla, and the edentia of the mandible in the pediatric dentistry department of the Chosun University Dental Hospital, a fabrication of denture resulted in the recovery of mastication and speech function and aesthetic improvement due to an increase of the face height.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.14-18
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• 2016

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year-and 6-month-old boy experienced afebrile generalized seizure at the age of 5 years and 3 months. He had recurrent febrile seizures since 12 months of age and showed severe global developmental delay, remarkable hypotonia, short stature, and dysmorphic features such as microcephaly; small, low-set ears; dark, straight eyebrows; deep-set eyes; flat nasal bridge; midface hypoplasia; and a small, pointed chin. Previous diagnostic work-up, including conventional chromosomal analysis, revealed no definite causes. However, array-comparative genomic hybridization analysis revealed 1p36 deletion syndrome with a 9.15-Mb copy loss of the 1p36.33-1p36.22 region, and fluorescence in situ hybridization analysis (FISH) confirmed this diagnosis. This case highlights the need to consider detailed chromosomal study for patients with delayed development and epilepsy. Furthermore, 1p36 deletion syndrome should be considered for patients presenting seizure and moderate-to-severe developmental delay, particularly if the patient exhibits dysmorphic features, short stature, and hypotonia.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.36 no.1
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• pp.7-12
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• 2014

Nevoid basal cell carcinoma syndrome (NBCCS) is inherited as an autosomal dominant trait with variable conditions, including multiple basal cell carcinoma, numerous keratocystic odontogenic tumors (KOTs) in the jaws, ectopic calcification of the falx cerebri, bifid ribs, macrocephaly, kyphoscoliosis, cleft palate, frontal and temporal bossing, mild ocular hypertelorism, mild mandibular prognathism, vertebral fusion, and so on. A 16-year-old boy visited the Dong-A University Medical Center, requiring diagnosis and treatment of multiple cystic lesions. He presented with many conditions related to NBCCS, including multiple KOTs, bifid rib, cleft lip, frontal bossing, mild ocular hypertelorism, and mild mandibular prognathism. No characteristic cutaneous manifestations (nevoid basal cell carcinoma) were observed in this patient. We report on a case of multiple KOTs associated with NBCCS with a review of the literature.

• Clinical and Experimental Pediatrics
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• v.50 no.4
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• pp.386-389
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• 2007

Cyclic vomiting syndrome (CVS) is a paroxysmal, recurrent vomiting disorder of unknown pathophysiology and target organ. It has been hypothesized that CVS shares the same mechanism as migraine. We describe here a 5-year-old boy with CVS characterized by episodic vomiting attacks. These recurrent vomiting episodes began at 3 years of age, occurred every month and lasted for 5 days at a time. At the time of admission, no abnormal physical or neurological findings were observed and laboratory findings, including brain MRI and endoscopic examination, revealed nothing specific. The vomiting episodes were self-limited but recurrent and severely interrupted his daily life. When this patient was treated with topiramate, he showed a marked increase of symptom-free periods.

• Archives of Plastic Surgery
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• v.34 no.3
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• pp.325-329
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• 2007

Purpose: Mobius syndrome is a rare congenital disorder characterized by facial diplegia and bilateral abducens palsy, which occasionally combines with other cranial nerve dysfunction. The inability to show happiness, sadness or anger by facial expression frequently results in social dysfunction. The classic concept of cross facial nerve grafting and free muscle transplantation, which is standard in unilateral developmental facial palsy, cannot be used in these patients without special consideration. Our experience in the treatment of three patients with this syndrome using transfer of muscles innervated by trigeminal nerve showed rewarding results. Methods: We used bilateral temporalis muscle elevated from the bony temporal fossa. Muscles and their attached fascia were folded down over the anterior surface of the zygomatic arch. The divided strips from the attached fascia were passed subcutaneously and anchored to the medial canthus and the nasolabial crease for smiling and competence of mouth and eyelids. For the recent 13 years the authors applied this method in 3 Mobius syndrome cases- 45 year-old man and 13 year-old boy, 8 year-old girl. Results: One month after the surgery the patients had good support and already showed voluntary movement at the corner of their mouth. They showed full closure of both eyelids. There was no scleral showing during eyelid closure. Also full closure of the mouth was achieved. After six months, the reconstructed movements of face were maintained. Conclusion: Temporalis muscle transfer for Mobius syndrome is an excellent method for bilateral reconstruction at one stage, is easy to perform, and has a wide range of reconstruction and reproducibility.

• Journal of Chest Surgery
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• v.30 no.12
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• pp.1247-1250
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• 1997

A 13-year-old boy presented with anterior chest wall depression and dyspnea on exertion(NYHA II). He underwent Ravitch operation for pectus excavatum 7 years ago. A preoperative echocardiographic study revealed secundum atrial septal defect. He had no other abnormality of laboratory test, except FVC and FEVI were decreased into 2.03 L(7 %) and 1.82 L(71 %). He underwent repair of secondary anterior chest wall deformity and secundum atrial septal defect. We used unique method, raising sternum at right angle to secure good operative field for open heart surgery. Acute respiratory insufficiency was developed on postoperative day 1. Mechanical ventilation was applied which could be weaned on postoperative day 6 and thereafter hospital course was uneventful without any other sequale. He was discharged on postoperative day 19.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.11 no.1
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• pp.88-98
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• 2011

Lesch-Nyhan syndrome is a X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine-guanidine phosphoribosyltransferase (HPRT), enzyme to recycle purines. Case history: born induced vaginal delivery at 40 weeks complicated by premature membrane ruputure, body weight 2.820 gm. He showed failure to thrive showing severe protein aversion like milk products and pink daper. Developmental delay revealing rolling over at 10.5 month, followed by regression. Seizure at 2 months, His poor oral feeding was lifelong problem. Weak crying, spastic, choreoathetoid movement. Self mutilating behavior noted and diagnosed at age 3 years. No family history of consanguinity and neurological disorders. Method: Laboratory test, physical exam, imaging study and molecular. Clinical follow up Treat ment with allopurinol. Result: uric acid 10.5 mg/dL (N 3.5-7.9), APRT 151.1uM/ min/ml pro(25.7-101), HPRT 7.6 (N 233.5-701) and c.151C>T hemizygote (p,Arg51X). Abdominal sonogram showed staghorn calculi in both kidneys, brain MRI brain atrophy. Clinical follow up showed, seizure at 2 mo, developmental delay (head control and, rolling over at at 11mo, pointing body part at 2 yr 7 mo, eye hand coordination at 2 y 11mo,creeping at 3 y 7 mo, speaking words at 6 y 6 mo ),and developmental regression at 3 yr of age. Sleeping problem including insomnia and severe constipation. Self mutilating behavior (lip bite) started at 2.5 yr, neurologic sx including intermittent upward gaze accompanied by swallowing difficulty at 3 y 7 mo grand mal seizure at 4.5 yr and spastic extremity and trunchal hypotonia and choleoathetoid movement and ataxia at 6.5 yr. Scoliosis with severe spasticity at 9 yr 9 mo. Acute life threatening episode with irregular breathing at 9 yr and 9 mo, Emaciation and nephrolithiasis and recurrent pneumonia. Died suddenly at 10 yr 3 mo. Conclusion: life long feeding problem, chronic gut motility dysfunction, sleeping difficulty and progressing neurologic deterioration and nephrolithiasis despite normal serum uric acid maintence by allopurinol treatment.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.54-57
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• 2012

A 3-year-old boy was transferred to emergency room (ER) with lethargy and abdominal pain. Physical examination revealed drowsy mental status but neurologically intact. Basic evaluation in ER shows hypoglycemia (43 mg/dL), hyperglycerolemia, ketonemia and ketonuria. Initial urine organic acid was performed and the result showed severe hyperglyceroluria. Under suspicion of isolated GKD, GKD gene was obtained from his DNA from white blood cell in peripheral blood and sequencing was performed. Isolated glycerol kinase deficiency (GKD) is an X-linked inborn error of metabolism that is either symptomatic or asymptomatic. GKD is due to deletions of, or mutations within, the GK gene, and there is no genotype-phenotype correlation. Gene study that we performed showed normal at a well-known mutation site, but found 4-base insertion at 79 base pair away from the beginning of exon 11.

• Childhood Kidney Diseases
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• v.8 no.1
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• pp.91-95
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• 2004

We report a 2-month-old boy who presented with severe hyponatremia and hyperkalemia secondary to ureteropelvic junction(VPJ) obstruction. By prenatal ultrasonography at 19 weeks of gestation, severe hydronephrosis was found which was confirmed postnatally Pyeloplasty was done on the 45th day of life, and fifteen days after pyeloplasty, non-bilious vomiting, decreased activity and dehydration developed. Severe hyponatremia and hyperkalemia were observed, as a result of elevated serum aldosterone and plasma renin activity. The anterior posterior pelvic diameter(APPD) and Society for Fetal Urology(SFU) grade measured showed no interval change before and after pyeloplasty. Pseudohypoaldosteronism was diagnosed, and 2M NaCl was administrated orally for 7 days. The electrolyte imbalance was corrected, and 8 weeks later, the elevated levels of aldosterone and plasma renin activity were normalized. The left hydronephrosis was improved at 5 months of age. We hereby report a transient pseudohypoaldosteronism secondary to UPJ obstruction with a review of the literature.

• Childhood Kidney Diseases
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• v.12 no.2
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• pp.233-238
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• 2008

It has been suspected that various infections, including cytomegalovirus(CMV) infection, are associated with IgA nephropathy. In case of CMV infection, ganciclovir is known to be a treatment of choice for severe CMV infection in general. But ganciclovir has a lot of severe toxicity, so children with normal immunity are seldom treated by ganciclovir when CMV infection is suspected. On the other hand, intravenous immunoglobulin can also be used to treat CMV infection. We report a case of CMV-associated IgA nephrophaty, who was treated with deflazacort and Intravenous immunoglobulin therapy. An 11 years old boy suffered from gross hematuria for 3 days. He had proteinuria, thrombocytopenia(104,000/$mm^3$), antiplatelet antibody(＋), impaired renal function and low serum albumin. His CMV serology was CMV-IgM/IgG(＋/-) and urine CMV-PCR was positive. The renal histological findings revealed IgA nephropathy, WHO class II. His proteinuria persisted despite of deflazacort therapy(2.5 mg/kg/day). Later, intravenous immunoglobulin(1 g/kg) was administered twice. In two years, he showed no gross and microscopic hematuria, and his laboratory findings were also normalized.