- A pediatric case of idiopathic Harlequin syndrome
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Kim JY, Lee MS, Kim SY, Kim HJ, Lee SJ, You CW, Kim JS, Kang JH
- KMID: 2362273
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S125-S128.
- doi: 10.3345/kjp.2016.59.11.S125
Harlequin syndrome, which is a rare disorder caused by dysfunction of the autonomic system, manifests as asymmetric facial flushing and sweating in response to heat, exercise, or emotional factors. The... -
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- Granular cell tumor of the esophagus in an adolescent
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Lee JS, Ko KO, Lim JW, Cheon EJ, Kim YJ, Son JS, Yoon JM
- KMID: 2362264
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S88-S91.
- doi: 10.3345/kjp.2016.59.11.S88
Esophageal granular cell tumor (GCT) is a rare neoplasm originating from the Schwann cells of the submucosal neuronal plexus. Histology is the gold standard for its diagnosis. Endoscopic resection or... -
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- A nonsense PAX6 mutation in a family with congenital aniridia
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Han KH, Lee HJ, Ha IS, Kang HG, Cheong HI
- KMID: 2362243
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S1-S4.
- doi: 10.3345/kjp.2016.59.11.S1
Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to... -
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- Endovascular stenting of tracheoinnominate fistula after tracheostomy in a 14-year-old boy
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Bae MH, Lee YJ, Nam SO, Kim HY, Kim CW, Kim YM
- KMID: 2362261
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S76-S79.
- doi: 10.3345/kjp.2016.59.11.S76
Tracheoinnominate artery fistula is a rare, fatal complication of tracheostomy, and prompt diagnosis and management are imperative. We report the case of tracheoinnominate artery fistula after tracheostomy in a 14-year-old... -
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- A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome
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Cho HW, Lee ST, Cho H, Cheong HI
- KMID: 2362268
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S103-S106.
- doi: 10.3345/kjp.2016.59.11.S103
Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations... -
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- Esthesioneuroblastoma in a boy with 47, XYY karyotype
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Jo HC, Lee SW, Jung HJ, Park JE
- KMID: 2362265
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S92-S95.
- doi: 10.3345/kjp.2016.59.11.S92
Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with... -
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- A neonate with Joubert syndrome presenting with symptoms of Horner syndrome
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Lee N, Nam SO, Kim YM, Lee YJ
- KMID: 2362250
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S32-S36.
- doi: 10.3345/kjp.2016.59.11.S32
Joubert syndrome (JS) is characterized by the “molar tooth sign†(MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however,... -
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- Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea
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Choi YC, Yum MS, Kim MJ, Lee YJ, Ko TS
- KMID: 2362279
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S152-S156.
- doi: 10.3345/kjp.2016.59.11.S152
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the... -
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- Paroxysmal kinesigenic dyskinesia in a patient with a PRRT2 mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl
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Seo SY, You SJ
- KMID: 2362280
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S157-S160.
- doi: 10.3345/kjp.2016.59.11.S157
Coexistence of paroxysmal kinesigenic dyskinesia (PKD) with benign infantile convulsion (BIC) and centrotemporal spikes (CTS) is very rare. A 10-year-old girl presented with a 3-year history of frequent attacks of... -
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- Anomalous right coronary artery from pulmonary artery discovered incidentally in an asymptomatic young infant
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Kim KS, Jo EY, Yu JH, Kil HR
- KMID: 2362262
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S80-S83.
- doi: 10.3345/kjp.2016.59.11.S80
Isolated anomalous right coronary artery originating from the pulmonary artery (ARCAPA) is a rare congenital coronary anomaly that is asymptomatic and discovered incidentally in most cases. ARCAPA is generally not... -
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- Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome
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Lee MJ, Kim BY, Ma JS, Choi YE, Kim YO, Cho HJ, Kim CJ
- KMID: 2362270
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S112-S115.
- doi: 10.3345/kjp.2016.59.11.S112
Noonan syndrome is an autosomal dominant, multisystem disorder. Autoimmune thyroiditis with hypothyroidism is an infrequent feature in patients with Noonan syndrome. A 16-year-old boy was admitted because of chest discomfort... -
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- Type I Chiari malformation presenting orthostatic syncope who treated with decompressive surgery
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Shin HS, Kim JA, Kim DS, Lee JS
- KMID: 2362278
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S149-S151.
- doi: 10.3345/kjp.2016.59.11.S149
Chiari malformations are a congenital anomaly of the hindbrain. The most common, Chiari malformation type I (CM-I), is characterized by herniation of the cerebellar tonsils extending at least 3 mm... -
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- Posterior reversible encephalopathy syndrome caused by presumed Takayasu arteritis
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Lee KW, Lee ST, Cho H
- KMID: 2362277
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S145-S148.
- doi: 10.3345/kjp.2016.59.11.S145
Takayasu arteritis (TA) is a chronic inflammatory disease of unknown etiology that affects mainly the aorta, main aortic branches, and pulmonary arteries. Diverse neurological manifestations of TA have rarely been... -
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- Acute gastritis associated with Epstein-Barr virus infection in a child
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Kim JM, Song CW, Song KS, Kim JY
- KMID: 2362259
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S68-S71.
- doi: 10.3345/kjp.2016.59.11.S68
Infectious mononucleosis is Epstein-Barr virus (EBV) inducing a self-limiting clinical syndrome characterized by fever, sore throat, hepatosplenomegaly, and generalized lymphadenopathy. Gastrointestinal symptoms of EBV infection are nonspecific and occur rarely.... -
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- Successful treatment of tubulointerstitial nephritis and uveitis with steroid and azathioprine in a 12-year-old boy
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Kim JE, Park SJ, Oh JY, Jeong HJ, Kim JH, Shin JI
- KMID: 2362267
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S99-S102.
- doi: 10.3345/kjp.2016.59.11.S99
Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare disease, often underdiagnosed or misdiagnosed in children. We describe the case of a 12-year-old boy who presented to Severance Hospital with... -
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- Familial Mediterranean fever presenting as fever of unknown origin in Korea
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Lee JH, Kim JH, Shim JO, Lee KC, Lee JW, Lee JH, Chae JJ
- KMID: 2362255
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S53-S56.
- doi: 10.3345/kjp.2016.59.11.S53
Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis,... -
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- Ictal sinus pause and myoclonic seizure in a child
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Kim HR, Kim GH, Eun SH, Eun BL, Byeon JH
- KMID: 2362274
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S129-S132.
- doi: 10.3345/kjp.2016.59.11.S129
Ictal tachycardia and bradycardia are common arrhythmias; however, ictal sinus pause and asystole are rare. Ictal arrhythmia is mostly reported in adults with temporal lobe epilepsy. Recently, ictal arrhythmia was... -
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- Long-term clinical course of a patient with mucopolysaccharidosis type IIIB
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Kim JH, Chi YH, Kim GH, Yoo HW, Lee JH
- KMID: 2362251
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S37-S40.
- doi: 10.3345/kjp.2016.59.11.S37
Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients... -
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- Eosinophilic gastroenteritis in an 18-year-old male with prolonged nephrotic syndrome
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Choi DM, Pyun JE, Yim HE, Yoo KH, Shim JO, Lee EJ, Won NH
- KMID: 2362260
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S72-S75.
- doi: 10.3345/kjp.2016.59.11.S72
Eosinophilic gastroenteritis is a rare disease characterized by prominent eosinophilic tissue infiltration of the gastrointestinal tract. Here, we report a case of eosinophilic gastroenteritis in an 18-year-old patient with prolonged... -
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- A 2-month-old boy with hemolytic anemia and reticulocytopenia following intravenous immunoglobulin therapy for Kawasaki disease: a case report and literature review
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Kim NY, Kim JH, Park JS, Kim SH, Cho YK, Cha DH, Kim KE, Kang MS, Lim KA, Sheen YH
- KMID: 2362257
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S60-S63.
- doi: 10.3345/kjp.2016.59.11.S60
Herein, we report a rare case of hemolytic anemia with reticulocytopenia following intravenous immunoglobulin therapy in a young infant treated for Kawasaki disease. A 2-month-old boy presented with fever lasting... -
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