Σφακιανάκης Αλέξανδρος
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5 Άγιος Νικόλαος
Κρήτη 72100
00302841026182
00306932607174
alsfakia@gmail.com

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Κυριακή 24 Φεβρουαρίου 2019

Child Neurology Open

 
  1. Open Access

    De Novo KCNQ2 Mutation in One Case of Epilepsy of Infancy With Migrating Focal Seizures That Evolved to Infantile Spasms

    MD1PhD1MD1PhD1
    Child Neurology Open, vol. 5First Published April 11, 2018.
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    Abstract

    Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare type of early-onset epileptic encephalopathy that is characterized by refractory migratory multifocal seizures that migrate between hemispheres. Its etiology is not well known although it is postulated to occur due to channelopathy. The authors report the first case of EIMFS due to a de novo heterozygous mutation in exon 4(c.881C>T missense mutation, p.Ala294Val, NM_172107.2) in KCNQ2 gene which later evolved into infantile spasms. However, it is the second case of EIMFS with KCNQ2 mutation. He presented with multifocal migratory partial seizures which started at the age of 8 days. Electroencephalogram examination revealed multifocal interictal spikes that migrated from one hemisphere to the other within a seizure. It was intractable with antiepileptic drugs and adrenocorticotropic hormone. He later developed spasms from the age of 8 months. Consequently, our case supports the new association between EIMFS and KCNQ2 mutations. Moreover, it enriches the disease phenotype because of transformation.

  2. Open Access

    Ketogenic Diet in Refractory Childhood Epilepsy: Starting With a Liquid Formulation in an Outpatient Setting

    Child Neurology Open, vol. 5First Published May 29, 2018.
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    Abstract

    Ketogenic diet in children with epilepsy has a considerable impact on daily life and is usually adopted for at least 3 months. Our aim was to evaluate whether the introduction of an all-liquid ketogenic diet in an outpatient setting is feasible, and if an earlier assessment of its efficacy can be achieved.

    The authors conducted a prospective, observational study in a consecutive group of children with refractory epilepsy aged 2 to 14 years indicated for ketogenic diet. Ketogenic diet was started as an all-liquid formulation of the classical ketogenic diet, KetoCal 4:1 LQ, taken orally or by tube. After 6 weeks, the liquid diet was converted into solid meals. The primary outcome parameter was time-to-response (>50% seizure reduction). Secondary outcome parameters were time to achieve stable ketosis, the number of children showing a positive response, and the retention rate at 26 weeks.

    Sixteen children were included. Four of them responded well with respect to seizure frequency, the median time-to-response was 14 days (range 7-28 days). The mean time to achieve stable ketosis was 7 days. The retention rate at 26 weeks was 50%. Of the 8 children who started this protocol orally fed, 6 completed it without requiring a nasogastric tube.

    Introduction of ketogenic diet with a liquid formulation can be accomplished in orally fed children without major complications. It allowed for fast and stable ketosis.

  3. Open Access

    Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation

    MDCM1*MD2*MD, FRCP(C), FCCMG3MDCM, FRCP(C)4DPhil, MD, FRCP(C)3MDCM, FRCP(C)1
    Child Neurology Open, vol. 5First Published August 23, 2018.
  4. Open Access

    A Retrospective Analysis of the Long-Term Outcome of Drug-Resistant Epilepsy in Children Treated in Urban India

    Child Neurology Open, vol. 5First Published September 4, 2018.
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    Abstract

    To study the outcome of childhood-onset drug-resistant epilepsy.

    Fifty-five patients with drug-resistant epilepsy, meeting inclusion criteria, were identified from the Pediatric Neurology Clinic database with seizure onset less than age 13 years and a minimum follow-up of 5 years. Seizure remission was defined as no more than 1 seizure/year. Kaplan-Meier analysis was used to calculate the annual probability of seizure remission. Chi-square/Kruskal-Wallis tests were used to detect differences in predictors between those with seizure remission, ≥75% improvement and <75% improvement based on caregiver reports.

    Median follow-up was 11 years. Of 55, 22 (40%) were in seizure remission at last contact; 14 (25.4%) improved by ≥75%; 19 (34.5%) experienced <75% improvement. Annual remission probability was 3% in IQ ≥70 group and 2.48% in IQ <70 group (P = .126).

    This study shows patients with drug-resistant epilepsy treated in urban India can expect an overall remission rate of 2% per year starting from the third year of follow-up.

  5. Open Access

    Epileptic Negative Myoclonus as the First and Only Symptom in a Challenging Diagnosis of Benign Epilepsy With Centrotemporal Spikes

    MD1MS11MS1MS1MS1BS1
    Child Neurology Open, vol. 4First Published July 14, 2017.
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    Abstract

    To investigate the clinical and neurophysiological characteristics of epileptic negative myoclonus as the first and only ictal symptom of benign epilepsy with centrotemporal spikes.

    Electrophysiological evaluations included polygraphic recordings with simultaneous video electroencephalogram monitoring and tests performed with patient's upper limb outstretched in standing posture. Epileptic negative myoclonus manifestations, electrophysiological features, and responses to antiepileptic drugs were analyzed.

    The authors report 2 patients with benign epilepsy with centrotemporal spikes, who had epileptic negative myoclonus as the first and only seizure type. Video electroencephalogram monitoring results showed that their negative myoclonus seizures were emanating from the contralateral central and the parietal regions. Epileptic negative myoclonus was controlled by administration of valproate and levetiracetam.

    Epileptic negative myoclonus can be the first and only seizure type of benign epilepsy with centrotemporal spikes, and long-term follow-up monitoring should be the care for the recurrence and/or presence of other types of seizures.

  6. Open Access

    Clinical Profile of Pediatric Neurological Disorders: Outpatient Department, Khartoum, Sudan

    Child Neurology Open, vol. 3First Published April 4, 2016.
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    Abstract

    There is no available data from Sudan reflecting the magnitude of the neurological disorders and disabilities in the pediatric age-group. This study aims to evaluate the pattern of neurological disorders among Sudanese children.

    This is a retrospective survey of children with epilepsy and other neurodisability disorders seen at pediatric neurology outpatient clinic, during the period from January 2007 to August 2013. The data of 9600 patients were analyzed.

    A total of 6019 patients were included in the study. The majority of the patients had epilepsy that amounted to 52.8%, followed by cerebral palsy (19.1%), congenital anomalies of the central nervous system (6.2%), neuromuscular disorders (3.2%), stroke (2.4%), ataxia and movement disorders (1.9%), assumed genetic syndromes (1.2%), and others.

    Neurological disorders constitute a major cause of chronic morbidity in pediatric age-group.

  7. Open Access

    A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children

    Child Neurology Open, vol. 3First Published April 4, 2016.
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    Abstract

    Dystonia is often associated with the symmetrical basal ganglia lesions of Leigh syndrome. However, it has also been associated with mitochondrial NDmutations, with or without Leber hereditary optic neuropathy. The m.14459G>A mutation in ND6 causes dystonia with or without familial Leber hereditary optic neuropathy. We report heteroplasmic 14459G>A mutations in 2 unrelated children with nonmaternally inherited generalized dystonia and showing bilateral magnetic resonance imaging lesions in nucleus pallidus and putamen. Both children have reached their teenage years, and they are intellectually active, despite their motor problems.

  8. Open Access

    Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype: A Case Report and Review of Literature

    Child Neurology Open, vol. 3First Published April 4, 2016.
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    Abstract

    The GRIN2B (glutamate receptor, ionotropic, N-methyl-d-aspartate 2B) gene, located in the short arm of chromosome 12, encoding the NR2B subunit of the N-methyl-D-aspartate receptor, has recently been recognized to play an important role in corticogenesis and brain plasticity. Deletions in the short arm of chromosome 12 are rare. Hemizygous loss of function of the GRIN2B gene results in developmental delay, whereas gain of function leads to epilepsy, and infantile spasms in particular. In addition, GRIN2B variants have been associated with autism spectrum disorder and schizophrenia. Here the authors report a child with global developmental delay, autistic behavioural features, central hypotonia, dysmorphic features and isolated congenital anomalies of the fingers and toes, and a de novo heterozygous deletion in chromosome locus 12p13.2-p13.1, involving loss of several genes, including GRIN2B. This report and our review of the literature help clarify the distinct phenotypes associated with loss or gain of GRIN2B function.

  9. Open Access

    MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum

    Child Neurology Open, vol. 3First Published April 4, 2016.
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    Abstract

    Xq28 microduplications including the MECP2 gene constitute a 100% penetrant X-linked syndrome in males caused by overexpression of normal MeCP2 protein. A small number of cases of affected females have been reported. This can be due to the location of the duplicated material into an autosome, but it can also be due to the location of the duplicated material into one of the X chromosomes and random or unfavorable skewed X chromosome inactivation, which is much more likely to occur but may be underdiagnosed because of the resulting broad phenotypic spectrum. In order to contribute to the phenotypic delineation of Xq28 microduplications including MECP2 in symptomatic females, the authors present clinical and molecular data on 3 patients illustrating the broad phenotypic spectrum. Our finding underlines the importance of quantitative analysis of MECP2 in females with intellectual disability and raises the question of the indication in females with borderline intellectual performances or learning difficulties.

  10. Open Access

    Brain Inflammation in an Infant With Hemimegalencephaly, Escalating Seizures, and Epileptic Encephalopathy

    MD1MD1MD, PhD2
    Child Neurology Open, vol. 3First Published April 4, 2016.
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    Abstract

    Hemimegalencephaly, a congenital brain malformation typically characterized by enlargement of one hemisphere, is frequently associated with intractable epilepsy. The authors report a case of a 12-month-old girl with hemimegalencephaly who underwent semiurgent hemispherectomy because of rapidly escalating seizures, arrested development, and associated encephalopathy. The brain tissue was examined and evaluated for neuroinflammation. Immunohistochemical analysis of the brain tissue revealed the presence of abundant activated CD68-positive microglia and reactive astrogliosis. Detection of active inflammatory changes in the brain of a patient with hemimegalencephaly complicated by intractable epilepsy suggests a potential role of ongoing brain inflammation in seizure exacerbation and epileptic encephalopathy.

  11. Open Access

    An Unusual Triad in Pediatric Neurology: A Case Report on Cerebral Palsy, Epilepsy, and Duchenne Muscular Dystrophy

    Child Neurology Open, vol. 3First Published April 19, 2016.
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    Abstract

    We present a case of an unusual triad in pediatric neurology: a currently 12-year-old boy with cerebral palsy and epilepsy who was later also diagnosed with Duchenne muscular dystrophy. We describe the clinical path that resulted in this exceptional diagnosis. This case report illustrates how different neurological disorders may overshadow each other. In addition, it demonstrates that every child with cerebral palsy and either an atypical clinical course or with inexplicable laboratory values—as well as every infant boy born to a theoretical Duchenne muscular dystrophy carrier—should be subjected to additional investigations.

  12. Open Access

    Vagal Nerve Stimulation in the Treatment of Drug-Resistant Epileptic Encephalopathies in Inborn Errors of Metabolism: Report of 2 Cases

    Child Neurology Open, vol. 2, 4First Published October 25, 2015.
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    Abstract

    Patients affected by inborn errors of metabolism can develop catastrophic epilepsies ineligible for resective surgery. Few reports concerning vagal nerve stimulation in patients with epileptic encephalopathy in the context of metabolic diseases have been published in the literature. Drug-resistant epilepsies in metabolic disease could be a specific target for vagal nerve stimulation, although the efficacy of this technique in these patients still needs to be proved. The authors report our experience in treating refractory epilepsy with vagal nerve stimulation in 2 patients affected by inborn errors of metabolism. The first patient is a 23-year-old patient affected by glutaric aciduria type II, the other one is a 16-month-old child with nonketotic hyperglycinemia. Vagal nerve stimulation reduced seizures up to 50% in the first case and up to 90% in the second one.

  13. Open Access

    Ictal 99mTc-Ethyl Cysteinate Dimer SPECT Findings of a Girl With Refractory Localization-Related Epilepsy Who Developed Transient Ictal Bradycardia

    Child Neurology Open, vol. 2, 3First Published July 21, 2015.
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    Abstract

    Ictal bradycardia, which is considered to be one of the causes of sudden unexplained death in epilepsy, is rare. A 10-year-old girl with focal cortical dysplasia in her right centroparietal region developed transient ictal bradycardia during cluster seizures. Brain magnetic resonance imaging demonstrated a high signal intensity lesion adjacent to the focal cortical dysplasia lesion. Ictal 99mTc-ethyl cysteinate dimer single-photon emission computed tomography (SPECT) detected hyperperfusion in an area containing the high signal intensity lesion, which was located close to the insular cortex. Since the hyperperfusion zone observed on SPECT was considered to reflect seizure propagation, it is possible that the ictal bradycardia experienced in the present case was caused by the following mechanism: The repetitive seizure activity caused the high-intensity lesion seen on MRI to expand into the right insular cortex, which controls cardiac rhythm, resulting in ictal bradycardia.

  14. Open Access

    First Application of Ketogenic Diet on a Child With Intractable Epilepsy in Ghana

    MD12BA1MD1MD1MDPhD1
    Child Neurology Open, vol. 2, 3First Published September 21, 2015.
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    Abstract

    The prevalence of epilepsy in sub-Saharan Africa is higher than in other parts of the world, but it is short of the effective measure on treating intractable epilepsy. Epilepsy surgery is not easy to be performed due to the high cost and demand of operational skills. The authors planned to perform ketogenic diet therapy for the children with intractable epilepsy in Ghana with regard to its low cost and simple procedure. The candidate is a 10-month-old girl with epilepsy with unknown etiology. Her seizures couldn't be controlled by more than 3 antiepileptic drugs. Her development delayed severely due to frequent seizures. The authors successfully applied ketogenic diet for her. Her seizures were completely controlled after 2 weeks' therapy. Her mental condition was improved after that. The authors get much experience from this case for further developing ketogenic diet in Africa. This is the first report that ketogenic diet was applied to control intractable epilepsy in West Africa.

  15. Open Access

    Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature

    MD, PhD12MSc, PhD34MD2MD2MSc45MSc, PhD45MD, PhD6,MD, PhD12
    Child Neurology Open, vol. 2, 2First Published May 5, 2015.
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    Abstract

    Mutations in the guanine nucleotide-binding protein (G protein), α activating activity polypeptide O (GNAO1) gene have recently been described in 6 patients with early infantile epileptic encephalopathies. In the present study, we report the phenotype and the clinical course of a 4-year-old female with an epileptic encephalopathy (Ohtahara syndrome) and profound intellectual disability due to a de novo GNAO1 mutation (c.692A>G; p.Tyr231Cys). Ohtahara syndrome is a devastating early infantile epileptic encephalopathy that can be caused by mutations in different genes, now also including GNAO1. The mutation was found using a targeted next generation sequencing gene panel and demonstrates targeted sequencing as a powerful tool for identifying mutations in genes where only a few de novo mutations have been identified.

  16. Open Access

    Use of Magnesium Sulfate Infusion for the Management of Febrile Illness-Related Epilepsy Syndrome: A Case Series

    PharmD1MCI2MCI3MBBS2MBBS3MBBS3
    Child Neurology Open, vol. 2, 1First Published March 23, 2015.
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    Abstract

    Febrile illness-related epilepsy syndrome is a catastrophic epileptic encephalopathy that is highly refractory to most antiepileptic drugs leading to high morbidity and mortality. The authors report the use of a pediatric infusion protocol of continuous intravenous magnesium sulfate for the control of seizures in 2 children with febrile illness-related epilepsy syndrome refractory to multiple antiepileptic drugs in a pediatric intensive care unit of a tertiary care children's hospital. Both patients, 2 and 16 years of age, respectively, were treated with continuous magnesium sulfate infusion. Serum magnesium concentrations ranging from 2.1 to 5 mmol/L were achieved. Seizure reduction and cessation were noted in 1 patient with magnesium more than 3.0 mmol/L. No significant adverse effects were observed. Magnesium sulfate infusions can be safely used in pediatric refractory status epilepticus. Magnesium sulfate can be considered in the management of children with febrile illness-related epilepsy syndrome.

  17. Open Access

    Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal Cord Syndrome With Review of Literature

    Child Neurology Open, vol. 2, 1First Published February 13, 2015.
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    Abstract

    Encephalocraniocutaneous lipomatosis or Haberland syndrome is a rare, congenital neurocutaneous syndrome. It is characterized by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye and ipsilateral neurologic malformations. We describe the first case from Lebanon, an infant with classical encephalocraniocutaneous lipomatosis characterized by nevus psiloliparus, unilateral right facial and frontal–temporal subcutaneous lipomas, alopecia, ocular coloboma, aniridia and eyelid nodular tags, ventriculomegaly with intracranial and intraspinal lipomas, and tethered spinal cord. We report this case of rare association between encephalocraniocutaneous lipomatosis and tethered spinal cord syndrome and stress on the importance of spinal cord evaluation in encephalocraniocutaneous lipomatosis.

  18. Open Access

    FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome

    1MD1MD1MD, PhD1MD, PhD1MD, PhD1
    Child Neurology Open, vol. 2, 1First Published February 10, 2015.
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    Abstract

    Due to the genetic and clinical heterogeneity of Rett syndrome, patients with nonclassic phenotypes are classified as an atypical Rett syndrome, that is, preserved speech variant, early seizure variant, and congenital variant. Respectively, MECP2, CDKL5, and FOXG1 have been found to be the causative genes, but FOXG1 variants are the rarest and least studied. We performed mutational analyses for FOXG1 on 11 unrelated patients without MECP2 and CDKL5 mutations, who were diagnosed with atypical Rett syndrome. One patient, who suffered from severe early-onset mental retardation and multiple-type intractable seizures, carried a novel, de novo FOXG1 mutation (p.Gln70Pro). This case concurs with previous studies that have reported yields of ∼10%. FOXG1-related atypical Rett syndrome is rare in Korean population, but screening of this gene in patients with severe mental retardation, microcephaly, and early-onset multiple seizure types without specific genetic causes can help broaden the phenotypic spectrum of the distinct FOXG1-related syndrome.

  19. Open Access

    Connexin 43 and Its Hemichannels Mediate Hypoxia–Ischemia-Induced Cell Death in Neonatal Rats

    MD1MD, PhD1MD1MD, PhD1MD, PhD2
    Child Neurology Open, vol. 1, 1First Published August 26, 2014.
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    Abstract

    Wistar rat pups had the left common carotid artery cut, and they were exposed to 8% oxygen with free access to food and water until they were killed at 1, 12, 24, and 48 hours after the hypoxia–ischemia (HI) insult. Connexin 43 (Cx43), hemichannel (HC1), and caspase 3 (Casp3) in cerebral HI tissues were examined by immunohistochemistry and Western blot analyses. Astrocytes cell line, astrocytes transduced with a retroviral empty vector (Psup astrocyte), or a Cx43-specific small hairpin RNA (shRNA) construct (shRNA astrocytes) was treated with oxygen–glucose deprivation (OGD) insult. The viability of astrocytes was assessed by 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assay. The results showed the expression of Cx43, HC1, and Casp3 in rats' brain, and astrocytes and Psup astrocytes increased significantly after 24 hours of HI/OGD insult. Cell viability decreased after 24 hours of the insult. The results suggest that Cx43 and hemichannel are likely to mediate the astrocytic death after HI insult.

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