Partial epilepsy and developmental delay in infant with ring chromosome 14

George Imataka, M. Noguchi, K. Tsukada, Takao Takahashi, H. Yamanouchi, O. Arisaka

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Ring chromosome 14 (r14) is clinically characterized by early-onset epilepsy, mental retardation, delayed speech, microcephaly, extremely mild facial dysmorphisms and ophthalmologic abnormalities. We report a case presenting with partial seizures and delayed development in infancy in which r14 was diagnosed based on chromosomal analysis. The patient was a girl with a normal family and delivery history. A febrile generalized convulsions developed at age 9 months, and phenobarbital was started, but was changed to zonisamide due to impaired liver function. Chromosome analysis led to a diagnosis of 46, XX, r(14) (p11.2q32.3). At age 5 years, while under treatment with zonisamide and clobazam, epilepsy was characterized by multiple daily episodes of complex partial seizures. Although there are no consistent brain MRI or electroencephalogram findings, experienced pediatric neurologists can make a diagnosis based on facial dysmorphisms. When refractory epilepsy is encountered in infancy with developmental delay of unknown cause, chromosome analysis should be performed.

Original languageEnglish
Pages (from-to)81-83
Number of pages3
JournalGenetic Counseling
Volume24
Issue number1
Publication statusPublished - 2013
Externally publishedYes

Fingerprint

zonisamide
Partial Epilepsy
Epilepsy
Seizures
Chromosomes
Febrile Seizures
Microcephaly
Phenobarbital
Intellectual Disability
Electroencephalography
History
Pediatrics
Liver
Brain
Ring Chromosome 14 Syndrome
Therapeutics

Keywords

  • Chromosomal abnormality
  • Convulsion
  • Seizure

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Imataka, G., Noguchi, M., Tsukada, K., Takahashi, T., Yamanouchi, H., & Arisaka, O. (2013). Partial epilepsy and developmental delay in infant with ring chromosome 14. Genetic Counseling, 24(1), 81-83.

Partial epilepsy and developmental delay in infant with ring chromosome 14. / Imataka, George; Noguchi, M.; Tsukada, K.; Takahashi, Takao; Yamanouchi, H.; Arisaka, O.

In: Genetic Counseling, Vol. 24, No. 1, 2013, p. 81-83.

Research output: Contribution to journalArticle

Imataka, G, Noguchi, M, Tsukada, K, Takahashi, T, Yamanouchi, H & Arisaka, O 2013, 'Partial epilepsy and developmental delay in infant with ring chromosome 14', Genetic Counseling, vol. 24, no. 1, pp. 81-83.
Imataka G, Noguchi M, Tsukada K, Takahashi T, Yamanouchi H, Arisaka O. Partial epilepsy and developmental delay in infant with ring chromosome 14. Genetic Counseling. 2013;24(1):81-83.
Imataka, George ; Noguchi, M. ; Tsukada, K. ; Takahashi, Takao ; Yamanouchi, H. ; Arisaka, O. / Partial epilepsy and developmental delay in infant with ring chromosome 14. In: Genetic Counseling. 2013 ; Vol. 24, No. 1. pp. 81-83.
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