Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature

Cuddapah, Vishnu Anand; Thompson, Matthew D.; Blount, Jeffrey P.; Li, Rong; Guleria, Saurabh; Goyal, Monisha

doi:10.1016/j.pediatrneurol.2015.06.020

Cited by 23 publications

(12 citation statements)

References 24 publications

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“…Another cerebral form of T2SM is congenital hemimegalencephaly (Fig. ) . Sometimes, functional hemispherectomy may be an effective treatment …”

Section: Disorders Of Connective Tissue or Bonesmentioning

confidence: 99%

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The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

Happle

2018

Acad Dermatol Venereol

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In autosomal dominant skin disorders, the well-known type 1 segmental mosaicism reflects heterozygosity for a postzygotic new mutation. By contrast, type 2 segmental mosaicism originates in a heterozygous embryo from an early postzygotic mutational event giving rise to loss of the corresponding wild-type allele, which results in a pronounced segmental involvement being superimposed on the ordinary, non-segmental phenotype. Today, this concept has been proven by molecular analysis in many cutaneous traits. The purpose of this review was to seek publications of cases suggesting an extracutaneous manifestation of type 2 segmental mosaicism. Case reports documenting a pronounced extracutaneous segmental involvement were collected from the literature available in PubMed and from personal communications to the author. Pertinent cases are compared to the description of cutaneous segmental mosaicism of type 1 or type 2 as reported in a given trait. In total, reports suggesting extracutaneous type 2 segmental mosaicism were found in 14 different autosomal dominant skin disorders. In this way, clinical evidence is accumulated that extracutaneous type 2 segmental mosaicism does likewise occur in many autosomal dominant skin disorders. So far, however, molecular proof of this particular form of mosaicism is lacking. The present review may stimulate readers to inform colleagues of other specialties on this new concept, in order to initiate further research in this particular field of knowledge that has important implications for diagnosis, treatment and genetic counselling.

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“…Another cerebral form of T2SM is congenital hemimegalencephaly (Fig. ) . Sometimes, functional hemispherectomy may be an effective treatment …”

Section: Disorders Of Connective Tissue or Bonesmentioning

confidence: 99%

“…12). [125][126][127] Sometimes, functional hemispherectomy may be an effective treatment. 127 Linear involvement of the tongue has also been noted.…”

Section: (A) (B) (C)mentioning

confidence: 99%

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

Happle

2018

Acad Dermatol Venereol

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“…Multiple subpial transections surgery is done in patients with localized epileptogenic areas, which are impossible to remove safely. In such cases, transections will be made in cerebral cortex to interrupt and disconnect the seizures generating area with the neighbouring parts of the brain without affecting the functions performed by those areas in brain [26][27][28][29][30][31][32][33] .…”

Section: Non-drug Therapies To Treat Epilepsymentioning

confidence: 99%

An Overview of Non-drug Therapies for the Treatment of Epilepsy

Yasam¹,

Jakki²,

Senthil³

et al. 2018

pharmaceutical-sciences

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Yasam, et al.: Epilepsy and Non-drug TherapiesEpilepsy is one of the most common neurological disorders, characterized by recurrent spontaneous seizures and a major health problem that affects around 1-2 % of the population worldwide. The treatment generally includes antiepileptic drug therapies. However, despite the development of various antiepileptic drugs, about a third of patients are resistant to current pharmacotherapies. Non-drug therapies are also expanding in an exciting and unprecedented way since in patients with drug resistance, non-drug therapies like surgeries; implantable devices and diet are playing a key role in improving the quality of patient's life. In this review, the current available non-drug therapies ranging from preclinical to clinical for controlling seizures in epileptic patients with drug resistance have been highlighted. Initial results from these therapies are quite promising, but considerable development is required before these treatments earn a place in the standard clinical care.

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“…Dentre as manifestações da ET, a epilepsia é a mais prevalente, acometendo cerca de 83,5% dos pacientes (KINGSWOOD et al, 2017 Observou-se, também, nos casos relatados que não se obteve grande impacto na QV, ou mesmo melhora considerável no neurodesenvolvimento; podendo-se atribuir tal falto a vários fatores relacionados à presença de associação de duas patologias, cujo prognóstico é sabidamente restrito. Nos portadores de HME, em especial, verificou-se que a expectativa de vida é um ponto a ser discutido na indicação da HF (CUDDAPAH et al, 2015). A encefalopatia epiléptica grave de ambos, a idade da abordagem cirúrgica, a presença de outras alterações sistêmicas (caso 1), o acometimento dos cuidadores também portadores de ET, que impossibilitou por diversas ocasiões um acompanhamento mais regular, com a neuroreabilitação adequada e até mesmo a autorização de uma reabordagem cirúrgica que poderia melhorar a encefalopatia epiléptica e seus impactos (GONZÁLEZ-MARTÍNEZ et al, 2005).…”

Section: Discussionunclassified

“…Relatos de desconexão incompleta, associada à persistência de crises, melhorada com nova intervenção, são representativos. Diante dos bons resultados para o controle das crises após HF, com a evolução das técnicas cirúrgicas, das abordagens de reabilitação e dos novos conceitos de funcionalidade (que priorizam a função em relação ao déficit motor em si), esses pré-requisitos sofreram modificações(CUDDAPAH et al, 2015).Ainda em relação ao desfecho cirúrgico para o controle das crises, aquém do esperado, há de se discutir os resultados menos favoráveis no caso de HME, diagnóstico de ambas as crianças estudadas. SegundoCarreno et al (2001), as HME apresentam um estudo o pior resultado quando comparado com subgrupo das displasias que evidencia 85% de insucesso cirúrgico nos pacientes com HME e 85% de controle de crises no grupo com displasias outras que não HME.…”

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Associação entre hemimegalencefalia e esclerose tuberosa em pacientes com epilepsia

Coutinho¹

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Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature

Cited by 23 publications

References 24 publications

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

An Overview of Non-drug Therapies for the Treatment of Epilepsy

Associação entre hemimegalencefalia e esclerose tuberosa em pacientes com epilepsia

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