Anesthesia for orthopedic surgery in Pallister‐Killian syndrome

Knab, Jana; Heupel, Erhart W.; Steinmann, Daniel

doi:10.1111/j.1460-9592.2008.02522.x

Cited by 6 publications

(5 citation statements)

References 4 publications

(15 reference statements)

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Section: Discussionmentioning

confidence: 98%

“…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 Pallister-Killian syndrome, [5][6][7][8][9][10][11][12] especially regarding epileptic spasms. Yamamoto et al 9 reported on a case of a 19month-old boy with Pallister-Killian syndrome affected by West syndrome, and Sanchez-Carpintero et al 7 described 2 patients with Pallister-Killian syndrome having late-onset epileptic spasms, but hypsarrhythmia was not observed.…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3] Epileptic seizures were reported in 40% of 67 cases, 4 but their frequency is likely underestimated. Although epilepsy is frequently associated with this chromosome abnormality, the electroclinical findings have not yet been fully delineated [5][6][7][8][9][10][11][12] (Table 1).…”

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confidence: 99%

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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%

Section: Discussionmentioning

confidence: 99%

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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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“…Most intraoperative and postoperative analgesic measures, including nonsteroidal anti-inflammatory drugs, opioids, and epidural analgesia, have been reported to provide good pain relief [4][5][6][7]. However, since many patients with PKS have mental retardation, it may be difficult to judge whether the postoperative analgesic method is adequate.…”

mentioning

confidence: 99%

“…However, more occult PKS patients than expected may exist. In a PubMed search of anesthesia-related literature using the keyword "PKS," only 4 cases were found [4][5][6][7], and anesthetic management was uneventful irrespective of anesthetic method in all cases. Major anesthetic concerns have been described in these previous reports; therefore, this report focuses on the minor but important concerns of anesthetic management of PKS.…”

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confidence: 99%

Anesthetic management of Pallister-Killian syndrome using a Bispectral Index monitor in a patient with severe seizures

Kira

2011

Journal of Clinical Anesthesia

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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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Anesthesia for orthopedic surgery in Pallister‐Killian syndrome

Cited by 6 publications

References 4 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

Anesthetic management of Pallister-Killian syndrome using a Bispectral Index monitor in a patient with severe seizures

Seizure characteristics in Pallister–Killian syndrome

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