Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy

Background: KF is characterized by heterogeneity in the degree of expressed phenotypes. Objective: to ascertain the variable phenotypes of Klinefelter syndrome in children. Subjects and Methods: We present eight klinefelter patients, their age ranged from 2 to 11 years (mean 6.63). Subjects were meticulously examined for evidence of dysmorphology. Intelligence quotient was estimated. Results: Cytogenetic analysis revealed 47,XXY karyotype in all patients. The following was detected: Dysmorphism in 5/8, micropenis in 4/8, the left testis was nonpalpable in 4/8, short stature in 4/8, congenital cardiac malformations in 4/8, seizures in 4/8, mental retardation in 5/8, growth hormone deficiency in 2/8, hypothyroidism and delayed bone age in 1/8. Conclusion: Our study demonstrated a variable association of mental retardation, dysmorphism, micropenis, undescended testis, seizures, congenital heart defects, and growth hormone deficiency among Egyptian patients with Klinefelter syndrome. This merits further study to facilitate earlier diagnosis and better management to improve their quality of life.

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“…The prevalence of seizures in Klinefelter syndrome ranges from 2 to 10%, and they are predominantly focal epilepsy, and well controlled 4 .…”

Section: Introductionmentioning

confidence: 99%

Variable Associations of Klinefelter Syndrome in Children

Mazen

El-Ruby

El-Bassyouni

2010

Journal of Pediatric Endocrinology and Metabolism

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“…Several reports suggest the association of epilepsy and 18q- syndrome [3]. This chromosomal aberration is associated with various dysmorphisms consisting in microcephaly, turricephaly, deep-set-eyes, carp shaped mouth, broad nasal bridge, high arched or cleft palate, small hands and feet, frequent cardiac anomalies.…”

Section: Resultsmentioning

confidence: 99%

“…In patients with 2q deletion syndrome severe forms of early onset epilepsy consisting in status epilepticus, myoclonic seizures, generalized seizures and drugs resistant seizures, have been reported [3,19,71] even if convulsions are not the prominent feature. In these patients various patterns of EEG are reported: generalized and centro-temporal spikes, slow background or centro-temporal-frontal spikes and waves [71].…”

Section: Resultsmentioning

confidence: 99%

“…Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations resulting in mental retardation (MR) and seizures that are more frequent than in general population [1-3]. Certain chromosomal syndromes are specifically associated with epilepsy and show a particular clinical and EEG pattern such as 1p36 monosomy, Wolf-Hirschhorn syndrome, ring 20 chromosome syndrome, Miller-Dieker syndrome, 18q- syndrome, and Down syndrome.…”

Section: Introductionmentioning

confidence: 99%

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Epilepsy and chromosomal abnormalities

Sorge

2010

Ital J Pediatr

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BackgroundMany chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders.MethodsDetailed clinical assessment, electrophysiological studies, survey of the literature.ResultsIn some of these congenital syndromes the clinical presentation and EEG anomalies seems to be quite typical, in others the manifestations appear aspecific and no strictly linked with the chromosomal imbalance. The onset of seizures is often during the neonatal period of the infancy.ConclusionsA better characterization of the electro clinical patterns associated with specific chromosomal aberrations could give us a valuable key in the identification of epilepsy susceptibility of some chromosomal loci, using the new advances in molecular cytogenetics techniques - such as fluorescent in situ hybridization (FISH), subtelomeric analysis and CGH (comparative genomic hybridization) microarray. However further studies are needed to understand the mechanism of epilepsy associated with chromosomal abnormalities.

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“…К настоящему времени описаны более 500 хромосомных аномалий, ассоциированных с нарушением ЭЭГ-паттерна и су-дорогами [30]. Дети с хромосомными синдромами часто рождаются с небольшой массой тела и множест-венными малыми аномалиями развития и/или поро-ками развития 2 и более органов или систем.…”

Section: том 7 Volunclassified