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KMID : 1039920150220040233
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Neonatal Medicine
2015 Volume.22 No. 4 p.233 ~ p.237
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A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus
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Suh Bong-Sul
Ko Keun-Hyeok
Lee Kon-Hee
Sung Tae-Jung
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Abstract
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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.
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KEYWORD
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Wolf-Hirschhorn syndrome, Periventricular nodular heterotopia, Status epilepticus
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