A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus
Neonatal Medicine
; : 233-237, 2015.
Article
in Korean
| WPRIM (Western Pacific)
| ID: wpr-198023
Responsible library:
WPRO
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.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Arm
/
Status Epilepticus
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Chromosomes, Human, Pair 4
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Magnetic Resonance Imaging
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Parturition
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Periventricular Nodular Heterotopia
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Wolf-Hirschhorn Syndrome
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Karyotype
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Intellectual Disability
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Limits:
Child, preschool
/
Female
/
Humans
Language:
Korean
Journal:
Neonatal Medicine
Year:
2015
Document type:
Article