A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus
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초록
Wolf-Hirschhorn syndrome is a congenital disorder associated with partial deletion of the short arm of chromosome 4. The majority of patients showed characteristic facial anomalies - so called “Greek-Helmet” appearances - mental retardation, growth retardation, and developmental delay. Here we report the case of a 3-year-old girl who was diagnosed as having Wolf-Hirschhorn syndrome immediately at birth with distinct facial anomalies and an abnormal chromosomal karyotype [46,XX,del(4)(p14)]. The patient later presented with status epilepticus and magnetic resonance imaging showed periventricular nodular heterotopia.
Abstract
Wolf-Hirschhorn syndrome is a congenital disorder associated with partial deletion of the short arm of chromosome 4. The majority of patients showed characteristic facial anomalies - so called “Greek-Helmet” appearances - mental retardation, growth retardation, and developmental delay. Here we report the case of a 3-year-old girl who was diagnosed as having Wolf-Hirschhorn syndrome immediately at birth with distinct facial anomalies and an abnormal chromosomal karyotype [46,XX,del(4)(p14)]. The patient later presented with status epilepticus and magnetic resonance imaging showed periventricular nodular heterotopia.
참고문헌 (22)
- Battaglia A, "Wolf-Hirschhorn (4p-) syndrome", Adv Pediatr, 48, pp.75~113 (2001)
- Paradowska-Stolarz AM, "Wolf-Hirschhorn syndrome (WHS) -literature review on the features of the syndrome", Adv Clin Exp Med, 23, pp.485~489 (2014)
- Sukarova-Angelovska E, "Phenotypic variations in wolf-hirschhorn syndrome", Balkan J Med Genet, 17, pp.23~30 (2014)
- Watrin F, "Causes and consequences of gray matter heterotopia", CNS Neurosci Ther, 21, pp.112~122 (2015)
- Jun JY, "Wolf-Hirschhorn (4P-) syndrome presenting with status epilepticus", J Korean Epilepsy Soc, 17, pp.17~21 (2013)
- Lurie IW, "The Wolf-Hirschhorn syndrome", I. Genetics. Clin Genet, 17, pp.375~384 (1980)
- 김정현, "4p 아종말체의 결실을 동반한 모자익형 4번 환 염색체 1예", Annals of Laboratory Medicine, 29(1), pp.77~81 (2009), 대한진단검사의학회
- 동은실, "형광동소보합결합법에 의해 확진된 장기 생존 Wolf-Hischhorn Syndrome 1례", Korean Journal of Pediatrics, 43(3), pp.438~443 (2000), 대한소아과학회
- Hong JH, "Prenatal diagnosis of increased nuchal translucency in the wolf-hirschhorn syndrome and triple X karyotype", Korean J Fetal Med, 3, pp.34~38 (2007)
- Byeon SJ, "The wolf-hirschhorn syndrome in fetal autopsy", Korean J Pathol, 45, pp.S15~19 (2011)
- Battaglia A, "Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome:experience with 87 patients", Dev Med Child Neurol, 51, pp.373~380 (2009)
- Kagitani-Shimono K, "Epilepsy in Wolf-Hirschhorn syndrome (4p-)", Epilepsia, 46, pp.150~155 (2005)
- Acar G, "A case report of surgically treated drug resistant epilepsy associated with subependymal modular heterotopia", Seizure, 21, pp.223~226 (2012)
- Chung HJ, "Malformations of cortical development and epilepsy", J Korean Epilep Soc, 3, pp.3~15 (1999)
- Kim SK, "A case of band heterotopia", J Korean Pediatr Soc, 40, pp.999~1003 (1997)
- Tassi L, "Electroclinical, MRI and neuropathological study of 10 patients with nodular heterotopia, with surgical outcomes", Brain, 128, pp.321~337 (2005)
- d'Orsi G, "Clinical features and long term outcome of epilepsy in periventricular nodular heterotopia. Simple compared with plus forms", J Neurol Neurosurg Psychiatry, 75, pp.873~878 (2004)
- Gawlik-Kuklinska K, "Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p", Eur J Med Genet, 51, pp.165~171 (2008)
- Chitayat D, "Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature", Am J Med Genet, 55, pp.147~154 (1995)
- White DM, "Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation", Am J Med Genet, 57, pp.588~597 (1995)
- Shannon NL, "An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality", J Med Genet, 38, pp.674~679 (2001)
- Estabrooks LL, "Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes"", Am J Med Genet, 55, pp.453~458 (1995)