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KMID : 0391520150230040165
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Journal of the Korean Child Neurology Society
2015 Volume.23 No. 4 p.165 ~ p.169
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1p36 Deletion syndrome Presenting with Various Epileptic Semiologies
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Kim Ae-ree
Lee Ji-Won
Lee Mun-hyang
Lee Jee-hun
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Abstract
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1p36 deletion syndrome is the most common telomeric microdeletion syndrome.
It is related to various clinical features including neurodevelopmental impairment,
seizure, growth retardation, and heart defects. It is also known to have several
morphologic features, including deep-set eyes, flat nasal bridge, straight eyebrows
and pointed chin. Seizure is common in 1p36 deletion syndrome and its type and
natural course is variable. Control of seizure with antiepileptic drugs is variable;
however, seizure improves with time in majority of cases. We report a patient
presenting with various types of seizure, developmental delay, and morphological
abnormality. The patient developed complex partial seizure, infantile spasm, and
myoclonic seizure, at the age of 1, 4, and 12 months, respectively. The patient
was diagnosed as 1p36 deletion syndrome using array comparative genomic
hybridization. At the age of 15 months, seizure disappeared and development began
to progress.
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KEYWORD
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Chromosome 1p36 deletion syndrome, Seizure, Microarray analysis, Comparative genomic hybridization
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