A Case of Pallister–Killian Syndrome Associated with West Syndrome

Yamamoto, Hitoshi; Fukuda, Misao; Murakami, Hiroshi; Kamiyama, Noriko; Miyamoto, Yusaku

doi:10.1016/j.pediatrneurol.2007.05.001

Cited by 13 publications

(15 citation statements)

References 11 publications

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“…Although it has been previously suggested that most of the patients with PKS who are going to develop seizures do so shortly after birth [Schinzel, 1991], our data suggest otherwise as only eleven (35% or about one third) of the patients with seizures had seizures prior to 1 year of age and neonatal seizures were only reported in one child (2%). Likewise, our findings do support the notion suggested in the five previously described patients [Sanchez‐Carpintero et al, 2005; Yamamoto et al, 2007; Cerminara et al, 2010 also see Table I] that late onset spasms (occurring after 1 year of age, and hence after the typical age of onset for “infantile spasms”) may represent a relatively common epileptic pattern for children with PKS. Although 22% of parents reported that their child had ever experienced status epilepticus, based on subsequent careful review of our survey data, we believe this number to be falsely elevated secondary to parental reporting of longer clusters of tonic spasms as continuous seizure activity.…”

Section: Discussionsupporting

confidence: 92%

“…To date, only three groups (Table I) have described the detailed semiology and clinical characteristics of epileptic seizures in a total of five children with PKS [Sanchez‐Carpintero et al, 2005; Yamamoto et al, 2007; Cerminara et al, 2010]. Four of these children had onset of clustered epileptic spasms after infancy (“late‐onset spasms”) and one of these children had an EEG consistent with “modified hypsarrhythmia.” Of these four children, one had onset of “massive myoclonic jerks” at age 13 months that appeared photosensitive in nature, and clustered tonic spasms only emerged later at age 4 [Cerminara et al, 2010].…”

Section: Introductionmentioning

confidence: 99%

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Seizure characteristics in Pallister–Killian syndrome

Candee

Carey

Krantz

et al. 2012

American J of Med Genetics Pt A

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Pallister-Killian syndrome (PKS) is a congenital disorder attributed to supernumerary isochromosome 12p mosaicism. Craniofacial dysmorphism, learning impairment and seizures are considered cardinal features. However, little is known regarding the seizure and epilepsy patterns in PKS. To better define the prevalence and spectrum of seizures in PKS, we studied 51 patients (39 male, 12 female; median age 4 years and 9 months; age range 7 months to 31 years) with confirmed 12p tetrasomy. Using a parent-based structured questionnaire, we collected data regarding seizure onset, frequency, timing, semiology, and medication therapy. Patients were recruited through our practice, at PKS Kids family events, and via the PKS Kids website. Epilepsy occurred in 27 (53%) with 23 (85%) of those with seizures having seizure onset prior to 3.5 years of age. Mean age at seizure onset was 2 years and 4 months. The most common seizure types were myoclonic (15/27, 56%), generalized convulsions (13/27, 48%), and clustered tonic spasms (similar to infantile spasms; 8/27, 30%). Thirteen of 27 patients with seizures (48%) had more than one seizure type with 26 out of 27 (96%) ever having taken antiepileptic medications. Nineteen of 27 (70%) continued to have seizures and 17/27 (63%) remained on antiepileptic medication. The most commonly used medications were: levetiracetam (10/27, 37%), valproic acid (10/27, 37%), and topiramate (9/27, 33%) with levetiracetam felt to be "most helpful" by parents (6/27, 22%). Further exploration of seizure timing, in-depth analysis of EEG recordings, and collection of MRI data to rule out confounding factors is warranted.

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Section: Discussionsupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Seizure characteristics in Pallister–Killian syndrome

Candee

Carey

Krantz

et al. 2012

American J of Med Genetics Pt A

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“…Even though epilepsy is frequently associated with Pallister-Killian syndrome, [4][5][6][7][8][9][10][11][12] it remains difficult to characterize the clinical and EEG features of these patients, because of the sporadic nature of the reports and the short length of follow-up. 6 Only few, undetailed data exist on the types of epileptic seizures associated with PallisterKillian syndrome, 5-12 especially regarding epileptic spasms.…”

Section: Discussionmentioning

confidence: 99%

Late-Onset Epileptic Spasms in Children With Pallister-Killian Syndrome: A Report of Two New Cases and Review of the Electroclinical Aspects

et al. 2009

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Pallister-Killian syndrome is a rare syndrome of multiple congenital anomalies attributable to the presence of a mosaic supernumerary isochromosome (12p). Although the clinical manifestations of Pallister-Killian syndrome are variable, the most common anomalies include craniofacial dysmorphisms, limb deformities, progressive psychomotor development delay, severe hypotonia, and epilepsy. Standard karyotype is nearly always normal, but the isochromosome (12p) is present in a high percentage of skin fibroblasts. In this article, we report the case of 2 boys with Pallister-Killian syndrome having late-onset, drug-resistant epileptic spasms. Seizures have been reported in 40% of patients with Pallister-Killian syndrome but are poorly described. Epileptic spasms are not unusual in patients with brain malformations, chromosomal aberrations, and genetic syndromes, but epileptic spasms could be easily mistaken for behavioral manifestations. A better electroclinical characterization of epileptic seizures in Pallister-Killian syndrome using appropriate polygraphic tests (video-electroencephalography, electromyography) may lead to an early diagnosis and specific treatment for this form of epileptic spasms caused by this rare syndrome.

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“…These are deletion 1p36.3, Pallister-Killian syndrome (tetrasomy 12p), duplication of maternal 15q11q13, Miller-Dieker syndrome (deletion 17p13.3), and Down syndrome (trisomy 21) [25, 86–95]. The biological mechanism(s) of ISS in these syndromes are not known, except for Miller-Dieker syndrome in which the deletion of PAFAH1B1/LIS1 causes both abnormal primary glutamatergic and GABAergic interneuron migration [89, 96, 97].…”

Section: Iss With Predisposing Genotype Knownmentioning

confidence: 99%

Genetic and Biologic Classification of Infantile Spasms

Paciorkowski

Thio

Dobyns

2011

Pediatric Neurology

146

125

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Infantile spasms are an age-dependent epilepsy that are highly associated with cognitive impairment, autism, and movement disorders. Previous classification systems have focused on a distinction between symptomatic and cryptogenic etiologies, and have not kept pace with the recent discoveries of mutations in genes in key pathways of central nervous system development in patients with infantile spasms. Children with certain genetic syndromes are much more likely to have infantile spasms, and we review the literature to propose a genetic classification of these disorders. Children with these genetic associations with infantile spasms also have phenotypes beyond epilepsy that may be explained by recent advances in the understanding of underlying biological mechanisms. We therefore also propose a biologic classification of the genes highly associated with infantile spasms, and articulate models for infantile spasms pathogenesis based on that data. The two best described pathways of pathogenesis are abnormalities in the gene regulatory network of GABAergic forebrain development, and abnormalities in molecules expressed at the synapse. We intend for these genetic and biologic classifications to be flexible, and hope that they will encourage much needed progress in syndrome recognition, clinical genetic testing, and ultimately the development of new therapies that target specific pathways of pathogenesis.

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A Case of Pallister–Killian Syndrome Associated with West Syndrome

Cited by 13 publications

References 11 publications

Seizure characteristics in Pallister–Killian syndrome

Seizure characteristics in Pallister–Killian syndrome

Late-Onset Epileptic Spasms in Children With Pallister-Killian Syndrome: A Report of Two New Cases and Review of the Electroclinical Aspects

Genetic and Biologic Classification of Infantile Spasms

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