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Neurology
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
Clin Exp 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
Clin Exp 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...

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
Clin Exp 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
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
Clin Exp 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...

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
Clin Exp 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...

Neurology
Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1
Hyun Hee Lee, Yun Jung Hur
Clin Exp 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
Clin Exp 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
Clin Exp 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
Clin Exp 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...

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
Clin Exp 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...

Genetics and Metabolism
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
Clin Exp 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
Clin Exp 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
Clin Exp 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
Clin Exp 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
Clin Exp 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...

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