Palliative functional hemispherectomy for treatment of refractory status epilepticus associated with Alpers' disease

Lupashko, Svetlana; Malik, Saleem; Donahue, David J.; Hernandez, Angel; Perry, Matthew

doi:10.1007/s00381-011-1495-9

Cited by 21 publications

(22 citation statements)

References 8 publications

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“…Possible efficacious treatments for seizure were identified in 18 cases: ketogenic diet/low glycemic diet (n = 3), phenobarbital (n = 3), combined midazolam and thiopentone with other AEDs (n = 2), magnesium infusion (n = 2), combined propofol and thiopentone (n = 1), ketamine infusion (n = 1), folinic acid (n = 1), and carnitine for hepatic encephalopathy (n = 1) (Table ). Palliative hemispherectomy was performed in a single patient . A case series consisting entirely of adult patients with POLG ‐related occipital epilepsy (n = 19) suggested that a combination of sodium channel blocker (carbamazepine, oxcarbazepine, lamotrigine, and phenytoin) and benzodiazepine was effective for generalized tonic–clonic seizure, whereas myoclonus was better controlled with topiramate, phenobarbital, or clonazepam …”

Section: Resultsmentioning

confidence: 99%

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review

Anagnostou

Taylor

et al. 2016

Epilepsia

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We performed a systematic review of the clinical, molecular, and biochemical features of polymerase gamma (POLG)-related epilepsy and current evidence on seizure management. Patients were identified from a combined electronic search of articles using Ovid Medline and Scopus databases, published from January 2000 to January 2015. Only patients with a confirmed genetic diagnosis of POLG mutations were considered. Seventy-two articles were included for analysis. We identified 128 pathogenic variants in 372 patients who had POLG-related epilepsy. Among these, 84% of the cases harbored at least one of these pathogenic variants: p.Ala467Thr, p.Trp748Ser, and p.Gly848Ser. A bimodal distribution of disease onset was present in early childhood (<5 years) and adolescence; female patients had a later presentation than male patients (median age 4.00 vs. 1.83 years, p-value = 0.041). Focal-onset seizure including convulsive, myoclonus, and occipital seizures was common at the outset and was refractory to pharmacotherapy. We confirmed that homozygous pathogenic variants located in the linker region of POLG were associated with later age of onset and longer survival compared to compound heterozygous variants. In addition, biochemical and molecular heterogeneities in different tissues were frequently observed. POLG-related epilepsy is clinically heterogeneous, and the prognosis is, in part, influenced by the location of the variants in the gene and the presence of hepatic involvement. Normal muscle and fibroblast studies do no exclude the diagnosis of POLG-related mitochondrial disease and direct sequencing of the POLG gene should be the gold standard when investigating suspected cases.

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Section: Resultsmentioning

confidence: 99%

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review

Anagnostou

Taylor

et al. 2016

Epilepsia

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“…There is a precedent for palliative hemispherectomy surgery. Lupashko and colleagues reported on a child with a terminal condition (Alper’s disease) and refractory status epilepticus that underwent hemispherectomy for palliation to allow extubation and hospital discharge 33 . Ciliberto and colleagues reported on 7 patients with clearly defined bilateral seizure onset undergoing hemispherectomy surgery with three patients achieving seizure freedom (Engel I), and all patients with subjectively improved quality of life 34 .…”

Section: Discussionmentioning

confidence: 99%

Fifty Consecutive Hemispherectomies

Lew¹,

Koop

Mueller³

et al. 2014

Neurosurgery

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Background Techniques for achieving hemispheric disconnection in patients with epilepsy continue to evolve. Objective To review the outcomes of the first 50 hemispherectomy surgeries performed by a single surgeon with an emphasis on outcomes, complications, and how these results led to changes in practice. Methods The first 50 hemispherectomy cases performed by the lead author were identified from a prospectively maintained database. Patient demographics, surgical details, clinical outcomes, and complications were critically reviewed. Results From 2004 to 2012, 50 patients underwent hemispherectomy surgery (mean follow-up time 3.5 years). Modified lateral hemispherotomy (MLH) became the preferred technique and was performed on 44 patients. Forty patients (80%) achieved complete seizure freedom (Engel I). Pre- and post-surgical neuropsychological evaluations demonstrated cognitive stability. Two cases were performed for palliation only. Previous hemispherectomy surgery was associated with worsened seizure outcome (2 of 6 seizure-free, P = .005). The use of Avitene was associated with a higher incidence of postoperative hydrocephalus (56% v. 18%, P = .03). In MLH patients without the use of Avitene, the incidence of hydrocephalus was 13%. Complications included: infection (3), incomplete disconnection requiring reoperation (1), reversible ischemic neurologic deficit (1), and craniosynostosis (1). There were no (unanticipated) permanent neurological deficits or deaths. Minor technique modifications were made in response to specific complications. Conclusion The modified lateral hemispherotomy is effective and safe for both initial and revision hemispherectomy surgery. Avitene use appears to result in a greater incidence of postoperative hydrocephalus.

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“…59 However, VNS was not associated with significant seizure reduction in 5 children with biochemically but not genetically confirmed mitochondrial disease. 61 However, she died of liver failure only a few months later, so it is debatable whether such an invasive procedure was justified given the ultimately fatal outcome. 61 However, she died of liver failure only a few months later, so it is debatable whether such an invasive procedure was justified given the ultimately fatal outcome.…”

Section: Managementmentioning

confidence: 99%

“…60 Palliative functional hemispherectomy was reported to allow a child with Alpers syndrome and refractory status epilepticus to be extubated and discharged home. 61 However, she died of liver failure only a few months later, so it is debatable whether such an invasive procedure was justified given the ultimately fatal outcome. 62,63 In patients with status epilepticus, treatment of the underlying disease is clearly important.…”

Section: Managementmentioning

confidence: 99%

Mitochondrial diseases and status epilepticus

Rahman

2018

Epilepsia

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This narrative review focuses on the pathophysiology, diagnosis, and management of status epilepticus in the context of primary mitochondrial disease. Epilepsy is common in mitochondrial disease, reported in >20% of adult cases and 40%-60% of pediatric cohorts. Status epilepticus is less frequently reported and appears to be associated with particular subgroups of mitochondrial disorders, namely defects of the mitochondrial DNA and its maintenance, and disorders of mitochondrial translation and dynamics. Mechanisms underlying mitochondrial status epilepticus are incompletely understood, and may include bioenergetic failure, oxidative stress, immune dysfunction, and impaired mitochondrial dynamics. Treatments tried in mitochondrial status epilepticus include antiepileptic drugs, anesthetic agents, magnesium, high-dose steroids, immune globulins, vagus nerve stimulation, and surgical procedures, all with variable success. The outcome of mitochondrial status epilepticus is extremely poor, and effective therapeutic options have not been reported. Improved understanding of the mechanisms underpinning mitochondrial status epilepticus is needed in order to develop more effective treatments.

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Palliative functional hemispherectomy for treatment of refractory status epilepticus associated with Alpers' disease

Cited by 21 publications

References 8 publications

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review

Fifty Consecutive Hemispherectomies

Mitochondrial diseases and status epilepticus

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