- a case of type II lissencephaly; Walker-Earburg syndrome
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Kim AY, Lee JH, Kim YS, Cho KS, Jo JD
- KMID: 1691611
- J Korean Pediatr Soc.
- 1991 Nov;34(11):1598-1604.
No abstract available. -
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- A Case of Lissencephaly with West Syndrome
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Lim BY, Song JH, Chung SJ, Ahn CI
- KMID: 1683628
- J Korean Pediatr Soc.
- 1990 Oct;33(10):1413-1417.
No abstract available. -
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- A Case of Lissencephaly Dignosed by Magnetic Resonance Imaging
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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
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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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- Type 1 Lissencephaly with Ocular Abnormality and Cranial Nerve Palsies
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Seo IA, Cho SY, Choi SM
- KMID: 2409127
- Perinatology.
- 2017 Dec;28(4):171-176.
- doi: 10.14734/PN.2017.28.4.171
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-Bicker Syndrome
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Kim SJ, Lee YK, Choi BJ, Lee IG, Lee IJ, Whang KT
- KMID: 2177135
- J Korean Child Neurol Soc.
- 1998 May;5(2):351-355.
Miller-Dieter syndrome consists of severe type I lissencephaly, abnormal facial appearance, and sometimes other birth defects. Lissencephaly is a brain malformation manifested by a smooth cerebral surface, thickened cortical mantle,... -
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- A Forensic Autopsy Case of Lissencephaly for Evaluating the Possibility of Child Abuse
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Park SH, Hwang JJ, Ko KS, Kim SH, Ko TS, Jeong MH, Lee EH, Ha HI, Seo JS
- KMID: 1433184
- Korean J Leg Med.
- 2013 May;37(2):84-89.
- doi: 10.7580/kjlm.2013.37.2.84
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 Case of Miller-Dieker Syndrome
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Cho SJ, Lee TG, Kim EY, Noh YI, Park SK
- KMID: 1898290
- J Korean Soc Neonatol.
- 2000 Nov;7(2):194-198.
Miller-Dieker Syndrome consists of severe type I lissencephaly and a characteristic abnormal facial appearance at birth and may progress to severe neurologic defects such as intractable seizure and growth failure.... -
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- A Case of Cecal Volvulus Presenting with Chronic Constipation in Lissencephaly
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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 Case Report of Miller-Dieker Syndrome
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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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- A Case of Walker-Warburg Syndrome Presented with Seizures
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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 Miller-Dieker Syndrome without Characteristic Facial Anomaly
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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 Aase-Smith Syndrome
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Kim DJ, Seol IJ
- KMID: 1961853
- J Korean Child Neurol Soc.
- 1998 Oct;6(1):113-117.
The Aase-Smith syndrome is characterized by Dandy-walker malformation, hand abnormalities, joint contractures of the hands, and cleft palate. It is known to be inherited as autosomal dominant trait and to... -
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- A Case of Neuronal Heterotopia
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Joo JH, Seok EJ, Kim MJ, Seo SS
- KMID: 2335267
- J Korean Pediatr Soc.
- 1997 Aug;40(8):1173-1177.
Neuronal migrational disorders of the brain represent abnormalities in the formation of the neocortex caused by faulty migration of the subependymal neuroblasts. The neuroblasts normally migrate between the sixth and... -
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- A Case of Miller-Dieker Syndrome with Infantile Spasm and Lennox-Gastaut Syndrome
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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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- Clinical and Neuroradiologic Evaluations of Neuronal Migration Disorders
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Jo KD, Hwang YM, Lee MC
- KMID: 2342405
- J Korean Neurol Assoc.
- 1994 Jun;12(2):298-310.
Neuronal migration disorder is a rare group of congenital malfomations of the brain caused by insults to migrating neuroblasts during the six to fifteen gestational weeks. We identified 36 neuronal... -
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- Normal Variants and Pitfalls in Neonatal Neurosonography
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Lee YS, Kim JH
- KMID: 2001095
- J Korean Soc Med Ultrasound.
- 1998 Sep;17(3):241-248.
Sonography has been known to be vary useful to detect the disease of the brain in newborn infant. However, It is very important to differentiate between normal findings and normal... -
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- A Case of Septo-Optic Dysplasia-Schizencephaly Complex
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Ahn HS, Ahn BK, Han HJ
- KMID: 2123281
- J Korean Ophthalmol Soc.
- 1993 Jan;34(1):70-74.
Septo-optic dysplasia is diagnosed when optic nerve hypoplasia is combined with dysgenesis of the septum pellucidum and nearly two-thirds of them have hypothalamic-pituitary dysfunction. A number of these patients have... -
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- Hemimegalencephaly: A case report
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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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- The Correlation of Clinical Findings of Neuronal Migration Disorders with Brain Magnetic Resonance Imaging Characteristics
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Oh KS, Choi SS
- KMID: 2177129
- J Korean Child Neurol Soc.
- 1998 May;5(2):303-318.
PURPOSE: Beginning in the eighth week of fetal life the neuroblasts migrate from the midline to the periphery to form the gray matter of the cerebral cortex. Abnormalities of cell... -
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