The Pallister-Killian syndrome in a child with rare karyotype—a diagnostic problem

Śmigiel, Robert; Pilch, Jacek; Makowska, Izabela; Busza, Halina; Ślężak, Ryszard; Sasiadek, Maria M.

doi:10.1007/s00431-007-0608-7

Cited by 11 publications

(12 citation statements)

References 9 publications

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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: 98%

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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Section: Discussionmentioning

confidence: 98%

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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“…1), associated congenital defects (e.g., diaphragmatic hernia, cleft palate, heart anomalies, etc. ), physical exam findings (e.g., hypotonia and anomalous skin pigmentation) and genotypic variations observed [Smigiel et al, 2008]. Thus far, there does not appear to be a correlation between the proportion of tetrasomic cells and the severity of a patient's clinical presentation (i.e., severity of congenital abnormalities, survival, and degree of cognitive impairment) [Schinzel, 1991; Speleman et al, 1991].…”

Section: Introductionmentioning

confidence: 99%

“…Other case reports (Table I) suggest alternative seizure semiology. For example, Smigiel et al [2008] reported uncategorized seizures in a neonate with PKS, while Speleman et al [1991] described two patients with generalized seizures who were treated with valproic acid. Clearly, the existing information available with respect to the seizure and epilepsy characteristics in PKS (Table I) is limited and presented in a fairly inconsistent and fragmentary manner.…”

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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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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“…The condition is associated with 12p tetrasomy resulting from the variable expression of a supernumerary isochromosome (i12p) in differing cell lines[3–5]. Diagnosis of this mosaic condition may be elusive due to the absence or reduced expression of the isochromosome in peripheral blood lymphocytes [5,6]. Therefore, identification of the condition depends on a high index of suspicion, and on genotypic studies of cultured skin fibroblasts, buccal mucosal cells or high-sensitivity FISH in peripheral blood lymphocytes.…”

Section: Introductionmentioning

confidence: 99%

Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister–Killian syndrome

Filloux

Carey

Krantz

et al. 2012

European Journal of Medical Genetics

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Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by tetrasomy 12p mosaicism associated with a supernumerary isochromosome. Craniofacial dysmorphism, learning impairment and seizures are considered characteristic. However, little is known of the seizure and epilepsy patterns seen in PKS. To better define the occurrence and nature of epileptic and non-epileptic paroxysmal events in PKS, we describe our experience with 5 patients and compare their features with data from a larger cohort of PKS patients ascertained via a web-based parental questionnaire. Three of the 5 patients have had definite epileptic seizures, and one other has had paroxysmal events as yet not clarified. Four of the 5 have also had either non-epileptic paroxysmal events or episodes of uncertain nature. In those with epilepsy, all have had some period of relatively refractory seizures, all have required more than one antiepileptic drug, but none experienced status epilepticus. Only one of the patients with epilepsy (the oldest) has gone into remission. In two of the four with non-epileptic events, video-electroencephalographic monitoring has been valuable in clarifying the nature of the events. EEG characteristics include a slow dominant frequency as well as generalized and focal epileptiform features. Brain MRI findings can be normal but are variable. These specific findings correspond well to information reported by parents in a larger cohort of 51 individuals with PKS. Better understanding of the nature of epileptic and non-epileptic events in PKS will result from a more detailed analysis of objective data obtained from this larger cohort, and from deeper understanding of the molecular impact of 12p tetrasomy in selected cell lines.

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The Pallister-Killian syndrome in a child with rare karyotype—a diagnostic problem

Cited by 11 publications

References 9 publications

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

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

Seizure characteristics in Pallister–Killian syndrome

Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister–Killian syndrome

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