A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus
Neonatal Medicine
;
: 233-237, 2015.
Artigo
em Coreano
| WPRIM
| ID: wpr-198023
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Braço
/
Estado Epiléptico
/
Cromossomos Humanos Par 4
/
Imageamento por Ressonância Magnética
/
Parto
/
Heterotopia Nodular Periventricular
/
Síndrome de Wolf-Hirschhorn
/
Cariótipo
/
Deficiência Intelectual
/
Doenças e Anormalidades Congênitas, Hereditárias e Neonatais
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Neonatal Medicine
Ano de publicação:
2015
Tipo de documento:
Artigo
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