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Treatment Outcomes of Vagus Nerve Stimulation in Lennox-Gastaut Syndrome

Kang BS, Woo YS, Lee J, Yi YY, Koo BS, Kang JW

PURPOSE: Lennox-Gastaut syndrome (LGS) is one of the most severe epileptic encephalopathies and frequently patients with this syndrome respond poorly to antiepileptic drugs. The aim of this study was to...
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Treatment Outcomes of Vagus Nerve Stimulation in Lennox-Gastaut Syndrome

Kang BS, Woo YS, Lee J, Yi YY, Koo BS, Kang JW

PURPOSE: Lennox-Gastaut syndrome (LGS) is one of the most severe epileptic encephalopathies and frequently patients with this syndrome respond poorly to antiepileptic drugs. The aim of this study was to...
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Type 1 Lissencephaly with Ocular Abnormality and Cranial Nerve Palsies

Seo IA, Cho SY, Choi SM

Lissencephaly is a cerebral cortical malformation characterized by partial to total loss of gyri and sulci of brain leading to mental retardation and epilepsy. It is caused by failure of...
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Miller-Dieker Syndrome in an Extremely Low Birth Weight Infant

Park SJ, Lee NR, Bae MH, Han YM, Byun SY, Park KH

Miller-Dieker syndrome (MDS) is characterized by severe lissencephaly and facial dysmorphism including the prominent forehead, bitemporal hollowing, a short nose with upturned nares, a protuberant upper lip, and a small...
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A Case of Plummer-Vinson Syndrome Associated with Crohn's Disease

Park JM, Kim KO, Park CS, Jang BI

Plummer-Vinson syndrome manifests as cervical dysphagia, iron deficiency anemia, an upper esophageal web, and atrophic glossitis. The cause of the esophageal web is thought to be iron deficiency anemia; however,...
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A Case of Cecal Volvulus Presenting with Chronic Constipation in Lissencephaly

Lee EK, Kim JE, Lee YY, Kim S, Choi KH

  • KMID: 2315418
  • Pediatr Gastroenterol Hepatol Nutr.
  • 2013 Jun;16(2):131-134.
Cecal volvulus is uncommon in pediatric patients and there are few reports of cecal volvulus with cerebral palsy. Here, we report the case of a 19-year-old male patient who presented...
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A Forensic Autopsy Case of Lissencephaly for Evaluating the Possibility of Child Abuse

Park SH, Hwang JJ, Ko KS, Kim SH, Ko TS, Jeong MH, Lee EH, Ha HI, Seo JS

A 9-year-old Korean boy with lissencephaly was found dead at home. He had previously been diagnosed with lissencephaly that presented with infantile spasm on the basis of magnetic resonance imaging...
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A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?

Ozcan D, Derbent M, Seckin D, Bikmaz YE, Agildere M, De Sandre-Giovannoli A, Levy N, Gurakan B

Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial...
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Three-Dimensional Brain Surface Rendering Imaging of Cortical Dysplasia

Hwang SB, Kwak HS, Lee SY, Jin GY, Han YM, Chung GH

PURPOSE: The study was to evaluate the localization of the abnormal gyral and sulcal patterns obtained by means of brain surface rendering imaging. MATERIALS AND METHODS: Nineteen patients with cortical dysplasia...
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A Case of Walker-Warburg Syndrome Presented with Seizures

Kim SK, Lee JY, Kim YH, Lee IG

  • KMID: 2176847
  • J Korean Child Neurol Soc.
  • 2010 Nov;18(2):332-337.
Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, brain (lissencephaly, hydrocephalus, cerebellar malformations) and retinal abnormalities, and is associated with mental retardation and seizures....
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A Case of Diffuse Cerebral Cortical Dysplasia and Partial Agenesis of Corpus Callosum in Seckel Syndrome

Kim MA, Lee S, Chung HJ

  • KMID: 1468164
  • J Korean Child Neurol Soc.
  • 2009 May;17(1):84-89.
Seckel syndrome is a rare autosomal recessive disorder characterized by low birth weight, short but proportionate stature, microcephaly, moderate to severe mental retardation and typical facial features mimicking bird including...
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A Child With Muscle-eye-brain Disease

Lee E, Kim JH, Hwang JM

PURPOSE: To describe a child with muscle-eye-brain disease as the first case report in Korea. CASE SUMMARY: A 35-month-old girl presented with esotropia and nystagmus since birth. She was born with...
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A Case of Miller-Dieker Syndrome with Infantile Spasm and Lennox-Gastaut Syndrome

Na JM, Park CH, Yoo EJ, Jung K, Kim KS, Kim YW, Kim EY

  • KMID: 2059409
  • J Korean Child Neurol Soc.
  • 2008 May;16(1):86-91.
Miller-Dieker syndrome is a contiguous gene deletion syndrome involving chromosome 17p13.3, which is characterized by type 1(classical) lissencephaly and typical craniofacial abnormalities. Children with Miller-Dieker syndrome have profound psychomotor retardation,...
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A Case Report of Miller-Dieker Syndrome

Cho GJ, Oh MJ, Kwon JA, Kim KA, Lee JK, Hur JY, Saw HS, Park YG

  • KMID: 2280560
  • Korean J Perinatol.
  • 2005 Jun;16(2):181-186.
Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly (lissencephaly type 1) and distinct facial features. Children with MDS present with severe developmental...
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Vagus Nerve Stimulation In Intractable Pediatric Epilepsy Patients

You SJ, Kim DS, Lee JK, Ko TS

  • KMID: 2177007
  • J Korean Child Neurol Soc.
  • 2005 May;13(1):8-14.
PURPOSE: We intended to evaluate the efficacy, safety, and effects on quality of life of vagus nerve stimulation(VNS) in children with intractable epilepsy. METHODS: We retrospectively studied the medical records...
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A Case of Miller-Dieker Syndrome without Characteristic Facial Anomaly

Kong SY, Han SH, Yang JH, Kim EJ, Kim SH, Lee KH, Lee M

  • KMID: 2305443
  • Korean J Lab Med.
  • 2004 Jun;24(3):194-197.
Miller-Dieker syndrome is a multiple malformation syndrome characterized by severe lissencephaly and characteristic facial abnormalities at birth. It is associated with visible or submicroscopic deletions within chromosome 17p13.3 including PAFAH1B1...
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A Case of Lissencephaly Dignosed by Magnetic Resonance Imaging

Park IY, Kim HJ, Kim J, Ahn HY, Shin JC, Kim SP

  • KMID: 1838164
  • Korean J Perinatol.
  • 2003 Dec;14(4):433-437.
Lissencephaly is a rare disorder that is characterized by the disorganized and unlayered cortex. The cause of this disorder is related to chromosomal abnormalities or infection. The pathogenesis of lissencephaly...
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Mixed Quadriplegia with Lissencephaly and Dysmyelination

Moon JL, Jung KH, Kang SY

  • KMID: 2136715
  • J Korean Acad Rehabil Med.
  • 2001 Apr;25(2):330-335.
Lissencephaly results from a neuromigrational arrest during first and second trimester of pregnancy and shows hypotonia, marked mental retardation and seizure as predominant features. Myelination is a perinatal process and...
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Two Cases with Carbamazepine-induced Unusual Side Effects-Encephalopathy and Myoclonic Jerks

Ryu SY, Lee JY, Lee KH, Park SM, Han SR, Kim YI

  • KMID: 2186054
  • J Korean Neurol Assoc.
  • 2000 Mar;18(2):229-231.
Central nervous system toxicity is the most commonly recognized problem during treatment with carbamazepine (CBZ). The most common side effects of CBZ are drowsiness, incoordination, and vertigo. However, unusual conditions...
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Hemimegalencephaly: A case report

Lee YS, Jung ES, Kim SM, Kim BK

  • KMID: 1725669
  • Korean J Pathol.
  • 2000 Mar;34(3):243-247.
Hemimegalencephaly is an uncommon sporadic congenital malformation of the central nervous system characterized by enlargement of one cerebral hemisphere with cranial asymmetry, hemiparesis, epilepsy, and mental retardation. This report deals...
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