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A case of Menkes disease caused by novel mutation in the ATP7A gene with infantile hypertrophic pyloric stenosis

Park JS, Lee JM, Ki CS, Kim YE, Rhie S, Chae KY

  • KMID: 2176758
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):186-190.
Menkes disease is caused by mutations in the ATP7A gene that lead to intracellular copper transport defects and characterized by brownish twisted (kinky) hair accompanied by growth retardation and intellectual...
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A Case Report of Glucose Transporter 1 Deficiency Syndrome with a Novel Splice Site Mutation (SLC2A1: c.680-2delA)

Shin JS, Lee MJ, Kim SH

  • KMID: 2176757
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):182-185.
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by impaired glucose transport across the blood-brain barrier (BBB) and characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and...
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A Rare Case of Rapidly Progressive Severe Encephalitis Associated with Epstein-Barr Virus Infection

Kim SH, Lee NM, Chae SA

  • KMID: 2176756
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):178-181.
Epstein-Barr virus rarely causes encephalitis which has a benign outcome. About 90% of children have a benign clinical course without neurologic sequelae. However, 10% have residual persistent deficits and a...
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Enterovirus 71 Brainstem Encephalitis Presenting with Pulmonary Hemorrhage and Acute Heart Failure

Lee MS, Kim EH, Lee YJ, Oh KW, Lee KY

  • KMID: 2176755
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):173-177.
Enterovirus 71 has been recognized as being highly central nervous system (CNS) involved and presents with diverse neurologic manifestations. Brainstem encephalitis is the most common neurologic manifestation of CNS involvement...
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Osteopetrosis Associated with Hydrocephalus and Rickets: A Case Report

Hwang SM, Kong YH, Kim SJ

  • KMID: 2176754
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):169-172.
Osteopetrosis or albers-Schonberg disease is extremely rare disease. It is characterized by osteoporosis, stunted growth, deformity, increased likelihood of fractures, also patients suffers anemia, recurrent infections and hepatosplenomegaly. However, we...
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Successful Treatment of Intractable Hiccups with Benztropine

Kim YS, Yu HJ, Kim JY, Lee M, Lee J

  • KMID: 2176753
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):165-168.
In general, intractable hiccups are uncommon. Various drugs and interventions have been reported, but there is no consensus on the treatment of intractable hiccups. We report a patient with meningitis...
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A Carrier Of Duchenne Muscular Dystrophy In An 8-month-old Girl

Lee YJ, Song BK, Kim YM, Nam SO

  • KMID: 2176752
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):160-164.
Duchenne muscular dystrophy (DMD) is the most common and severe form of childhood muscular dystrophy. Females are affected in rare cases because of its' X-linked, recessive inheritance. A small number...
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Clinical Analysis of the Correlation between Febrile Seizures and Influenza Infection

Sohn Y, Kwon S, Moon J, Ahn JY, Kim JE, Baek HS

  • KMID: 2176751
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):155-159.
PURPOSE: Febrile seizures are common in children between the ages of 6 months and 5 years of age and are often caused by viral illnesses. Influenza infection presents with a...
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Predictors of Recurrent Febrile Seizure

Kim SH

  • KMID: 2176750
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):149-154.
PURPOSE: We performed this study to investigate the clinical features of febrile seizure (FS) and to identify prognostic factors of recurrence of FS on Jeju Island, South Korea. METHODS: A hospital-based...
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Floppy Infant Syndrome: Clinical Analysis and Diagnostic Approaches (2008-2012)

Sul YA, Yum MS, Yun-Jeong , Kim EH, Ko TS, Yoo HW

  • KMID: 2176749
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):143-148.
PURPOSE: Floppy infant, or congenital hypotonia, is caused by various diseases, such as genomic disorders, diseases involving the central or peripheral nervous system, musculoskeletal diseases, and metabolic disorders. We describe...
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Epilepsy Associated with Encephalomalacia in Children

Lyu SY, Bea MH, Lee YJ, Kim YM, Nam SO

  • KMID: 2176748
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):137-142.
PURPOSE: Encephalomalacia is one of the major causes of symptomatic epilepsy. However, no previous study has examined the correlation between encephalomalacia and epilepsy in children. In this study, we aimed...
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Evaluation of Etiology and Prognostic Factors of the Developmental Outcome in Neonatal Seizures

Jung JS, Lee J, Jeon GW, Sin JB, Lee B

  • KMID: 2176747
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):129-136.
PURPOSE: The purpose of this study was to investigate the clinical features of neonatal seizures and to identify prognostic factors of neurodevelopmental outcome in term infants who experienced clinical seizures. METHODS:...
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Factors Affecting Post-Lumbar Puncture Back Pain in Children

Song GJ, Kim YM, Lee YJ, Nam SO

  • KMID: 2176746
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):124-128.
PURPOSE: Lumbar puncture is an essential and commonly practiced diagnostic tool and post-lumbar puncture headache and post-lumbar puncture back pain are common neurological complications. The aim of this study is...
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Hand, Foot, and Mouth Disease Neurologic Complications: Clinical Features and Parameters

Kim JS, Eom TH, Kim SJ, Bin JH, Kim YH

  • KMID: 2176744
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):116-123.
PURPOSE: Hand, foot, and mouth disease (HFMD) is a common childhood illness. Enterovirus 71 (EV71) epidemics have recently been associated with HFMD-based neurologic complications in the Asia-Pacific region. This study...
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Normal Polysomnographic Characteristics in Korean Children and Adolescents

Kwon S, Gu YM, Lee HW, Seo H

  • KMID: 2176742
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):110-115.
PURPOSE: The objective of this study was to describe polysomnographic charateristics in normal children and adolescents in Korea. Little is known regarding sleep architecture in Korean children. METHODS: We conducted a...
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Clinical Characteristics and Electroencephalogram in Children with Recurrent Headache

Pyun JE, Byeon JH, Eun SH, Kim GH, Eun BL

  • KMID: 2176740
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):103-109.
PURPOSE: We compared clinical findings of headaches to find out important characteristics for the differential diagnosis of headaches. We tried to find out specific electroencephalogram (EEG) findings according to the...
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