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Volume 59(Suppl 1); Nov 2016
Case Reports
Genetics and Metabolism
A nonsense PAX6 mutation in a family with congenital aniridia
Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong
Korean J Pediatr. 2016;59(Suppl 1):S1-S4.   Published online November 30, 2016

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 mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members...

Immunology
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation
Woojoong Kim, Eujin Park, Yo Han Ahn, Jiwon M. Lee, Hee Gyung Kang, Byung Joo Kim, Il-Soo Ha, Hae Il Cheong
Korean J Pediatr. 2016;59(Suppl 1):S5-S9.   Published online November 30, 2016

Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis. Mutations in the nucleotide oligomerization domain 2 (NOD2) gene are responsible for causing BS. To date, up to 30 Blau-associated genetic mutations have been identified within this gene. We report a novel NOD2 genetic mutation...

Neurology
Chromosome 11q13 deletion syndrome
Yu-Seon Kim, Gun-Ha Kim, Jung Hye Byeon, So-Hee Eun, Baik-Lin Eun
Korean J Pediatr. 2016;59(Suppl 1):S10-S13.   Published online November 30, 2016

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness,...

1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis
Dong Soo Kang, Eunsim Shin, Jeesuk Yu
Korean J Pediatr. 2016;59(Suppl 1):S14-S18.   Published online November 30, 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...

Genetics and Metabolism
Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation
Jin Hwan Lee, Hyo Jeong Kim, Jung Min Yoon, Eun Jung Cheon, Jae Woo Lim, Kyong Og Ko, Gyung Min Lee
Korean J Pediatr. 2016;59(Suppl 1):S19-S24.   Published online November 30, 2016

Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the...

Endocrinology
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo
Korean J Pediatr. 2016;59(Suppl 1):S25-S28.   Published online November 30, 2016

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with...

Neurology
Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1
Hyun Hee Lee, Yun Jung Hur
Korean J Pediatr. 2016;59(Suppl 1):S29-S31.   Published online November 30, 2016

Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures,...

A neonate with Joubert syndrome presenting with symptoms of Horner syndrome
Narae Lee, Sang-Ook Nam, Young Mi Kim, Yun-Jin Lee
Korean J Pediatr. 2016;59(Suppl 1):S32-S36.   Published online November 30, 2016

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, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral...

Genetics and Metabolism
Long-term clinical course of a patient with mucopolysaccharidosis type IIIB
Ja Hye Kim, Yang Hyun Chi, Gu-Hwan Kim, Han-Wook Yoo, Jun Hwa Lee
Korean J Pediatr. 2016;59(Suppl 1):S37-S40.   Published online November 30, 2016

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 begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up...

Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk
Kyung Lae Cho, Yeo Jin Kim, Song Hyun Yang, Gu-Hwan Kim, Jun Hwa Lee
Korean J Pediatr. 2016;59(Suppl 1):S41-S44.   Published online November 30, 2016

We report here a case of maternal 3-methylcrotonyl-coenzyme A carboxylase (3-MCC) deficiency in a Korean woman. Her 2 infants had elevated 3-hydroxyisovalerylcarnitine (C5-OH) on a neonatal screening test by liquid chromatography-tandem mass spectrometry (LC-MS/MS), but normal results were found on urine organic acid analysis. The patient was subjected to serial testing and we confirmed a maternal 3-MCC deficiency by blood...

Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Korean J Pediatr. 2016;59(Suppl 1):S45-S48.   Published online November 30, 2016

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so...

Immunology
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia
Jeongeun Lee, Minhee Rhee, Taek Ki Min, Hae In Bang, Mi-Ae Jang, Eun-Suk Kang, Hee-Jin Kim, Hyeon-Jong Yang, Bok Yang Pyun
Korean J Pediatr. 2016;59(Suppl 1):S49-S52.   Published online November 30, 2016

X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton’s tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, this absence leads to a profound deficiency of lg all isotypes, and an increased susceptibility to encapsulated bacterial infections. A 15-month-old Korean boy...

Familial Mediterranean fever presenting as fever of unknown origin in Korea
Jun Hee Lee, Jong Hyun Kim, Jung Ok Shim, Kwang Chul Lee, Joo Won Lee, Jung Hwa Lee, Jae Jin Chae
Korean J Pediatr. 2016;59(Suppl 1):S53-S56.   Published online November 30, 2016

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, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle...

Oncology
Targeted busulfan and fludarabine-based conditioning for bone marrow transplantation in chronic granulomatous disease
Hee Young Ju, Hyoung Jin Kang, Che Ry Hong, Ji Won Lee, Hyery Kim, Sang Hoon Song, Kyung-Sang Yu, In-Jin Jang, June Dong Park, Kyung Duk Park, Hee Young Shin, Joong-Gon Kim, Hyo Seop Ahn
Korean J Pediatr. 2016;59(Suppl 1):S57-S59.   Published online November 30, 2016

Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by impaired phagocytic function. Hematopoietic stem cell transplantation (HSCT) is a definitive cure for CGD; however, the use of HSCT is limited because of associated problems, including transplantation-related mortality and engraftment failure. We report a case of a patient with CGD who underwent successful HSCT following a targeted busulfan and...

Cardiology
A 2-month-old boy with hemolytic anemia and reticulocytopenia following intravenous immunoglobulin therapy for Kawasaki disease: a case report and literature review
Na Yeon Kim, Joon Hwan Kim, Jin Suk Park, Soo Hyun Kim, Yeon Kyung Cho, Dong Hyun Cha, Ki Eun Kim, Myung Suh Kang, Kyung Ah Lim, Youn Ho Sheen
Korean J Pediatr. 2016;59(Suppl 1):S60-S63.   Published online November 30, 2016

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 3 days, conjunctival injection, strawberry tongue, erythematous edema of the hands, and macular rash, symptoms and signs suggestive of incomplete Kawasaki disease. His fever resolved 8 days after treatment with...

Pulmonology
Congenital miliary tuberculosis in an 18-day-old boy
Jue Seong Lee, Chang Hoon Lim, Eunji Kim, Hyunwook Lim, Yoon Lee, Ji Tae Choung, Young Yoo
Korean J Pediatr. 2016;59(Suppl 1):S64-S67.   Published online November 30, 2016

Congenital tuberculosis (TB) is a rare disease that is associated with high mortality. Mycobacterium tuberculosis, the causative agent, may be transmitted from the infected mother to the fetus by the transplacental route or by aspiration of infected amniotic fluid. Clinical symptoms and signs are not specific. Miliary patterns are the most common findings in the chest X-rays of many infants...

Gastroenterology
Acute gastritis associated with Epstein-Barr virus infection in a child
Ji Mok Kim, Chun Woo Song, Kyu Sang Song, Jae Young Kim
Korean J Pediatr. 2016;59(Suppl 1):S68-S71.   Published online November 30, 2016

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. EBV inducing acute gastrointestinal pathology is poorly recognized without suspicion. Careful consideration is needed to diagnose gastric involvement of EBV infection including gastric lymphoma, gastric cancer, and gastritis. A few...

Nephrology (Genitourinary)
Eosinophilic gastroenteritis in an 18-year-old male with prolonged nephrotic syndrome
Da Min Choi, Jung Eun Pyun, Hyung Eun Yim, Kee Hwan Yoo, Jung Ok Shim, Eun Jung Lee, Nam Hee Won
Korean J Pediatr. 2016;59(Suppl 1):S72-S75.   Published online November 30, 2016

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 nephrotic syndrome who presented with abdominal pain and peripheral hypereosinophilia. During the previous 2 years, he had visited local Emergency Department several times because of epigastric pain and nausea. He...

Pulmonology
Endovascular stenting of tracheoinnominate fistula after tracheostomy in a 14-year-old boy
Mi-Hye Bae, Yun-Jin Lee, Sang Ook Nam, Hye-Young Kim, Chang Won Kim, Young Mi Kim
Korean J Pediatr. 2016;59(Suppl 1):S76-S79.   Published online November 30, 2016

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 boy with a history of severe periventricular leukomalacia, hydrocephalus, cerebral palsy, and epilepsy. The tracheoinnominate artery fistula was successfully treated with a stent graft insertion via the right common femoral...

Cardiology
Anomalous right coronary artery from pulmonary artery discovered incidentally in an asymptomatic young infant
Kyu Seon Kim, Eun Young Jo, Jae Hyeon Yu, Hong Rang Kil
Korean J Pediatr. 2016;59(Suppl 1):S80-S83.   Published online November 30, 2016

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 considered a fatal defect in infancy or childhood, although cases of sudden death have been reported. Here, we report a 2-month-old female infant who presented with a prolonged fever that...

Idiopathic midaortic syndrome with malignant hypertension in 3-year-old boy
Kyung Jin Ahn, Ja Kyoung Yoon, Gi Beom Kim, Bo Sang Kwon, Eun Jung Bae, Chung Il Noh
Korean J Pediatr. 2016;59(Suppl 1):S84-S87.   Published online November 30, 2016

Midaortic syndrome (MAS) is a rare vascular disease that commonly causes renovascular hypertension. The lumen of the abdominal aorta narrows and the ostia of the branches show stenosis. MAS is associated with diminished pulses in the lower extremities compared with the upper extremities, severe hypertension with higher blood pressure in the upper rather than lower extremities, and an abdominal bruit....

Gastroenterology
Granular cell tumor of the esophagus in an adolescent
Ji Sun Lee, Kyung Ok Ko, Jae Woo Lim, Eun Jeong Cheon, Young Jin Kim, Jang Sin Son, Jung Min Yoon
Korean J Pediatr. 2016;59(Suppl 1):S88-S91.   Published online November 30, 2016

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 surgical excision should be considered, depending on the potential for malignancy. Here, we report a case of an esophageal GCT in an adolescent. A 12-year-old boy presented with a 1-year...

Oncology
Esthesioneuroblastoma in a boy with 47, XYY karyotype
Hee Cheol Jo, Seong Wook Lee, Hyun Joo Jung, Jun Eun Park
Korean J Pediatr. 2016;59(Suppl 1):S92-S95.   Published online November 30, 2016

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 a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid...

Relapsed Wilms' tumor with multiple brain metastasis
Akın Akakın, Baran Yılmaz, Murat Şakir Ekşi, Özlem Yapıcıer, Türker Kılıç
Korean J Pediatr. 2016;59(Suppl 1):S96-S98.   Published online November 30, 2016

Wilms' tumor is the most common malignant renal tumor in childhood. The brain metastasis of a Wilms' tumor with anaplastic histopathology is rare. We present the case of an 8-year-old girl with Wilms' tumor, who presented with multiple brain metastases 5 years after her primary diagnosis. The brain masses were diagnosed after a generalized tonic-clonic seizure attack. The big solid...

Nephrology (Genitourinary)
Successful treatment of tubulointerstitial nephritis and uveitis with steroid and azathioprine in a 12-year-old boy
Ji Eun Kim, Se Jin Park, Ji Young Oh, Hyeon Joo Jeong, Ji Hong Kim, Jae Il Shin
Korean J Pediatr. 2016;59(Suppl 1):S99-S102.   Published online November 30, 2016

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 a 1-month history of bilateral conjunctival injection. He was first evaluated by an Ophthalmologist in another hospital and diagnosed with panuveitis. Laboratory tests indicated renal failure, and a renal biopsy...

A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome
Hee-Won Cho, Sang Taek Lee, Heeyeon Cho, Hae Il Cheong
Korean J Pediatr. 2016;59(Suppl 1):S103-S106.   Published online November 30, 2016

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 in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III...

Oncology
Unusual malignant neoplasms of ovary in children: two cases report
Ali Ghribi, Aicha Bouden, Manef Gasmi, Mourad Hamzaoui
Korean J Pediatr. 2016;59(Suppl 1):S107-S111.   Published online November 30, 2016

Sex cord tumors with annular tubules are known to originate from the sex cord of embryonic gonads that synthesize Sertoli cells, Leydig cells, granulosa cells, and theca cells of the ovarian stroma, while ovarian small cell carcinoma of the hypercalcemic type is a type of neuroendocrine tumor. Both these tumors are uncommon, potentially malignant neoplasms in children. We report the...

Endocrinology
Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome
Mi Ji Lee, Byung Young Kim, Jae Sook Ma, Young Earl Choi, Young Ok Kim, Hwa Jin Cho, Chan Jong Kim
Korean J Pediatr. 2016;59(Suppl 1):S112-S115.   Published online November 30, 2016

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 and dyspnea; an echocardiogram revealed pericardial effusion. Additional investigations led to a diagnosis of severe hypothyroidism due to Hashimoto thyroiditis. The patient was treated with L-thyroxine at 0.15 mg daily....

A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism
Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park
Korean J Pediatr. 2016;59(Suppl 1):S116-S120.   Published online November 30, 2016

Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion. CHI has been established as a genetic disorder of islet-cell hyperplasia, associated with a mutation of the ABCC8 or KCNJ11 genes, which encode the sulfonylurea receptor 1...

Concomitant occurrence of Turner syndrome and growth hormone deficiency
Jung Yu, Ha Young Shin, Chong Guk Lee, Jae Hyun Kim
Korean J Pediatr. 2016;59(Suppl 1):S121-S124.   Published online November 30, 2016

Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported...

Neurology
A pediatric case of idiopathic Harlequin syndrome
Ju Young Kim, Moon Souk Lee, Seung Yeon Kim, Hyun Jung Kim, Soo Jin Lee, Chur Woo You, Jon Soo Kim, Ju Hyung Kang
Korean J Pediatr. 2016;59(Suppl 1):S125-S128.   Published online November 30, 2016

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 syndrome may be primary (idiopathic) with a benign course, or can occur secondary to structural abnormalities or iatrogenic factors. The precise mechanism underlying idiopathic harlequin syndrome remains unclear. Here, we...

Ictal sinus pause and myoclonic seizure in a child
Hye Ryun Kim, Gun-Ha Kim, So-Hee Eun, Baik-Lin Eun, Jung Hye Byeon
Korean J Pediatr. 2016;59(Suppl 1):S129-S132.   Published online November 30, 2016

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 recognized as a major warning sign of sudden unexpected death in epilepsy. We present an interesting case of a child with ictal sinus pause and asystole. A 27-month-old girl was...

A young child of anti-NMDA receptor encephalitis presenting with epilepsia partialis continua: the first pediatric case in Korea
Eun-Hee Kim, Yeo Jin Kim, Tae-Sung Ko, Mi-Sun Yum, Jun Hwa Lee
Korean J Pediatr. 2016;59(Suppl 1):S133-S138.   Published online November 30, 2016

Anti-N-methyl D-aspartate receptor (anti-NMDAR) encephalitis, recently recognized as a form of paraneoplastic encephalitis, is characterized by a prodromal phase of unspecific illness with fever that resembles a viral disease. The prodromal phase is followed by seizures, disturbed consciousness, psychiatric features, prominent abnormal movements, and autonomic imbalance. Here, we report a case of anti-NMDAR encephalitis with initial symptoms of epilepsia partialis...

A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures
Jee-Yeon Han, Mi-Sun Yum, Eun-Hee Kim, Seokho Hong, Tae-Sung Ko
Korean J Pediatr. 2016;59(Suppl 1):S139-S144.   Published online November 30, 2016

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome that affects ectomesodermal tissues (skin, eyes, adipose tissue, and brain). The neurologic manifestations associated with ECCL are various including seizures. However, ECCL patients very rarely develop brain tumors that originate from the neuroepithelium. This is the first described case of ECCL in combination with dysembryoplastic neuroepithelial tumor (DNET) that presented with intractable...

Nephrology (Genitourinary)
Posterior reversible encephalopathy syndrome caused by presumed Takayasu arteritis
Ki Wuk Lee, Sang Taek Lee, Heeyeon Cho
Korean J Pediatr. 2016;59(Suppl 1):S145-S148.   Published online November 30, 2016

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 reported in children. Posterior reversible encephalopathy syndrome (PRES) is a neuroradiological condition that presents with headache, seizure, visual disturbances, and characteristic lesions on imaging. Inflammatory condition and severe hypertension in...

Neurology
Type I Chiari malformation presenting orthostatic syncope who treated with decompressive surgery
Hyun-Seung Shin, Jeong A Kim, Dong-Seok Kim, Joon Soo Lee
Korean J Pediatr. 2016;59(Suppl 1):S149-S151.   Published online November 30, 2016

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 below the plane of the foramen magnum. Consequently, CM-I is associated with hydrocephalus and symptoms involving compression of the cervicomedullary junction by ectopic tonsils. Several studies have reported the clinical...

Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea
Yeon-Chul Choi, Mi-Sun Yum, Min-Jee Kim, Yun-Jung Lee, Tae-Sung Ko
Korean J Pediatr. 2016;59(Suppl 1):S152-S156.   Published online November 30, 2016

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 midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive...

Paroxysmal kinesigenic dyskinesia in a patient with a PRRT2 mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl
Sun Young Seo, Su Jeong You
Korean J Pediatr. 2016;59(Suppl 1):S157-S160.   Published online November 30, 2016

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 staggering while laughing and of suddenly collapsing while walking. Interictal electroencephalogram (EEG) revealed bilateral CTS, but no changes in EEG were observed during movement. The patient's medical history showed afebrile...

Concurrency of Guillain-Barre syndrome and acute transverse myelitis: a case report and review of literature
Orkun Tolunay, Tamer Çelik, Ümit Çelik, Mustafa Kömür, Zeynep Tanyeli, Abdurrahman Sönmezler
Korean J Pediatr. 2016;59(Suppl 1):S161-S164.   Published online November 30, 2016

Guillain-Barré syndrome and acute transverse myelitis manifest as demyelinating diseases of the peripheral and central nervous system. Concurrency of these two disorders is rarely documented in literature. A 4-year-old girl presenting with cough, fever, and an impaired walking ability was admitted to hospital. She had no previous complaints in her medical history. A physical examination revealed lack of muscle strength...

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