Journal of Pediatric Neurology - Volume 9, issue 4

Authors: Frye, Richard E. | Naviaux, Robert K.

Article Type: Research Article

Abstract: Although mitochondrial disease is usually associated with reductions in electron transport chain complex activity, a few reports have associated mitochondrial disease with complex overactivity. This is the first report to associate complex IV overactivity with autistic disorder. Five patients with a significant elevation in complex IV activity, abnormal muscle electron microscopy and autistic disorder with developmental regression are reported. The majority, 80%, manifested either epilepsy or subclinical epileptiform discharges on electroencephalogram. Cerebral …folate deficiency was found in the three patients evaluated for this disorder. The majority of patients had potentially detrimental nuclear and mitochondrial abnormalities. This series represents a new mitochondrial syndrome characterized by autistic disorder with complex IV overactivity. The association with cerebral folate deficiency is important as cerebral folate deficiency is treatable with folinic acid. The significance of an increase in complex IV function is discussed in the context of the associated physiological disturbances reported in autism spectrum disorder. Show more

Keywords: Autism, complex IV, mitochondrial dysfunction, mitochondrial DNA mutation, regression

DOI: 10.3233/JPN-2011-0507

Citation: Journal of Pediatric Neurology, vol. 9, no. 4, pp. 427-434, 2011

Authors: Castro-Gago, Manuel | Gómez-Lado, Carmen | Pérez-Gay, Laura | Eirís-Puñal, Jesús | Novo-Rodríguez, María Inés

Article Type: Research Article

Abstract: There is evidence that children with mitochondrial diseases tend to have short stature, but the growth of these patients has not been assessed in detail. We calculated the standard deviation (SD) of height, weight and body mass index (BMI) of 58 children and adolescents between the ages of 1.5 months and 18 years with a proven diagnosis of mitochondrial diseases. Overall, 31.03% of recorded heights, 29.31% of weights and 39.65% of BMIs were more than 2SD …below the mean. In the group of children with encephalomyopathic forms of mitochondrial diseases, 34.09% of heights and weights, and 43.18% of BMIs were more than 2SD below the mean, while in the group with myopathic forms 21.42% of weights, 14.28% of heights and 28.57% of BMIs were more than 2SD below the mean. These results suggest that mitochondrial diseases are an important cause of short stature and of reduction in BMI in children and adolescents, particularly the encephalomyopathic forms. Show more

Keywords: Body mass index, growth, height, mitochondrial diseases, weight

DOI: 10.3233/JPN-2012-0519

Citation: Journal of Pediatric Neurology, vol. 9, no. 4, pp. 435-439, 2011

Authors: Usman, Muhammad | Ali, Mumtaz | Khan, Khalid Mahmood | Siddique, Muhammad | Khanzada, Khalid | Ali, Azaz

Article Type: Research Article

Abstract: This study was conducted to study the perioperative findings in patients of spinal dysraphism. This observational study was conducted in Neurosurgery Department of Post Graduate Medical Institute, Lady Reading Hospital, Peshawar from January 2008 to December 2009. All the patients of spinal dysraphism less than 2 years of age were included in this study, while patients with ruptured spinal dysraphism at the time of presentation and with concomitant established hydrocephalus were excluded. Data was collected and …analyzed by descriptive statistics using software SPSS version 17. Out of 96 patients operated for spinal dysraphism; 62 (64.58%) were males and 34 (35.42%) females. Eighty three patients (86.45%) were less than 1 yr, while 13 (13.54%) were above 1 yr. Peri-operative findings were: myelomeningocele in 50 (52.08%) patients, meningocele (MC) in 29 (30.20%), lipomyelomeningocele in six (6.25%), lipoma of cord with tethered cord in five (5.2%), MC with tethered cord in three (3.12%) patients, diastematomyelia in two (2.08%), while dermal sinus was found in one (1.04%) patient. In patients of spinal dysraphism less than 2 yr of age, more than 2/3rd of the patients presented with myelomeningocele and MC, while other features (such as lipomyelomeningocele, lipoma of cord with tethered cord, MC with tethered cord, diastematomyelia and dermal sinus) comprise only less than 20% of the spectrum. Show more

Keywords: Spinal dysraphism, perioperative findings, myelomeningocele, meningocele

DOI: 10.3233/JPN-2011-0486

Citation: Journal of Pediatric Neurology, vol. 9, no. 4, pp. 441-445, 2011

Authors: Ku{\l}ak, Wojciech | Okurowska-Zawada, Bożena | Sienkiewicz, Dorota | Paszko-Patej, Grażyna | Gościk, Elżbieta

Article Type: Research Article

Abstract: The aim of the study was to analyze the risk factors and clinical picture of cerebral palsy in non-ambulatory children. The study included 133 children (77 boys and 56 girls) with cerebral palsy aged 6– 17 years. The patients remained under the care of the Outpatient Clinic and Department of Pediatric Rehabilitation of the Medical University of Bialystok. Ninety-eight of the studied patients had spastic tetraplegia, 14 diplegia and 21 hemiplegia. The average duration of pregnancy …was 35.21 ± 1.32 weeks, the mean Apgar score was 4.31 ± 3.60 and the mean birth weight was 2448.3 ± 384.7 g. The patients exhibited the following types of motor dysfunctions: spasticity was found in 91 (68.9%) of the patients, hypotonia in 24 (18.2%), extrapyramidal symptoms in 13 (9.8%) and ataxia in 4 (3.0%) cases. More than 3/4 (79%) of the children were classified as level V on the Gross Motor Functional Classification System (GMFCS) scale, and 21% as level IV. All the children had mental retardation: 10 (7.5%) mild, 45 (33.3%) moderate and 78 (58.6%) severe. Most children (69.2%) with cerebral palsy did not speak, although 41 (30.8%) managed to utter single words and sentences. More than half (64.6%) required assistance in order to eat, whereas 47 (35.4%) had to be fed. Nearly half (44%) of the patients suffered from epilepsy. Periventricular leukomalacia and atrophy of the cerebral cortex were the most frequent findings on magnetic resonance imaging. Low birth weight, a low Apgar score, and preterm birth were factors that had a negative impact on the ability of children with cerebral palsy to ambulate independently. Spasticity of the lower limbs, mental retardation, lack of speech development and inability to eat without assistance, as well as changes observed on magnetic resonance imaging were also factors determining lack of independent walking. Show more

Keywords: Non-ambulatory, cerebral palsy, children, risk factors

DOI: 10.3233/JPN-2012-0520

Citation: Journal of Pediatric Neurology, vol. 9, no. 4, pp. 447-454, 2011

Authors: Ranger, Adrianna | Grigenas, Orest | Labib, Mohamed | Avery, Michael | Lownie, Stephen P.

Article Type: Research Article

Abstract: Cavernous hemangiomas (CH) are occult vascular malformations, typically presenting as hemorrhage within a cerebral hemisphere, or as seizures. Brainstem and cerebellar locations of these lesions are less commonly described. Potentially very serious, they tend to result in severe deficits or death. We review the existing scientific literature on their presentation and course during pregnancy. Relevant cases were identified through electronic searches of multiple internet search databases, including PubMed, SciSearch, Scientific Commons, Springer …Link, and Google, using advanced search functions and multiple search terms, using both American and British spellings. Detailed literature review revealed, including our own single case, 26 patients, ranging from 15 to 37 years, with 28 episodes of CH presenting during pregnancy. Two thirds occurred in the third trimester. Supratentorial lesions all presented with seizures, but without neurological deficits or documented hemorrhage, and all patients did well. Conversely, infratentorial lesions always presented with neurological deficits, usually with hemorrhage and never with seizures, and outcomes were quite variable, including maternal and fetal deaths. CHs are rare in pregnancy, but can affect pregnant women of any age, tending to occur in the 3rd trimester. Supratentorial CH present with seizures and patients generally do well. CH within the brainstem present with hemorrhage, and such patients have a guarded prognosis. If far enough into gestation, immediate delivery of the fetus and resection of the lesion are recommended. Show more

Keywords: Brainstem, cavernous hemangioma, intracranial hemorrhage, pregnancy, seizure

DOI: 10.3233/JPN-2012-0523

Citation: Journal of Pediatric Neurology, vol. 9, no. 4, pp. 455-464, 2011

Authors: Taghon, Thomas | Rabe, Andrew J. | Tobias, Joseph D.

Article Type: Research Article

Abstract: Dexmedetomidine, a centrally acting α_{2} -adrenergic agonist, is being used with increased frequency in the pediatric population due to its unique ability to render patients in a sedated, yet cooperative state, with a limited risk of adverse respiratory or hemodynamic effects. We report the successful use of dexmedetomidine to provide sedation following general anesthesia in two adolescents following cerebral angiography. Dexmedetomidine was used with limited effects on hemodynamic and ventilatory function to provide sedation and …limit movement to prevent hematoma formation at the femoral artery cannulation site. Both patients had underlying neurobehavioral disorders, which precluded their ability to cooperate with a prolonged period of post-procedure immobility. The potential application of dexmedetomidine in this unique patient population is discussed. Show more

Keywords: Dexmedetomidine, procedural sedation, cerebral angiography

DOI: 10.3233/JPN-2012-0514

Citation: Journal of Pediatric Neurology, vol. 9, no. 4, pp. 465-468, 2011

Authors: Chaluvadi, Siresha | Agadi, Satish | Riviello, James J.

Article Type: Research Article

Abstract: The numbers of hospitalizations, multiorgan complications, and deaths continued to rise during the H1N1 influenza pandemic. Although there are several reports of H1N1 influenza associated neurologic complications in all ages, there is no clear suggestion that the 2009 influenza A (H1N1) virus is associated with a disproportionate amount of neurologic illness beyond that observed with seasonal influenza. We describe the serious neurologic complications of children hospitalized with H1N1 influenza in Houston, Texas …during the 2009 season. We retrospectively studied five hospitalized children with neurological complications who were polymerase chain reaction positive for the H1N1 virus. In these five children, two had stroke (ischemic and/or hemorrhagic), two had seizures, and three had encephalopathic features. Regarding the outcome, improvement in neurological function occurred in four and one child died. These five children with neurologic complications represented 21% of the children with H1N1 influenza admitted to the pediatric intensive care unit. Show more

Keywords: H1N1, seizures, encephalopathy, stroke

DOI: 10.3233/JPN-2012-0524

Citation: Journal of Pediatric Neurology, vol. 9, no. 4, pp. 469-474, 2011

Authors: Krishnappa, | Dhananjaya, | Kiran, | Srinivas, | Gowda, Yallappa

Article Type: Research Article

Abstract: Neurocysticercosis (NCC) is the most common central nervous system parasitic disease worldwide, but cysticercal meningitis and intraventricular lesions are relatively rare, especially in Indian patients. Disseminated NCC with numerous cysts may give rise to the so-called "starry-sky" appearance on neuroimaging studies. Magnetic resonance imaging allows optimal identification of scolex and visualization of extraparenchymal cysts. We herein report a girl with multiple NCC (more than 400 lesions) with intraventricular involvement, but without focal …neurological deficit on examination. Show more

Keywords: Multiple neurocysticercosis, intraventricular cyst, "starry-sky" appearance

DOI: 10.3233/JPN-2011-0506

Citation: Journal of Pediatric Neurology, vol. 9, no. 4, pp. 475-478, 2011

Authors: Wright, Rosemary | Hernandez, Angel | Malik, Saleem | Donahue, David J. | Alles, Ajit | Perry, M. Scott

Article Type: Research Article

Abstract: Severe myoclonic epilepsy of infancy or Dravet syndrome is a catastrophic epilepsy of genetic origin that begins with febrile seizures in the first year of life and evolves to intractable epilepsy with cognitive decline and frequent episodes of status epilepticus. While multiple treatment strategies are employed, rarely are patients with Dravet syndrome considered for resective epilepsy surgery. We report a case of Dravet syndrome in which palliative resection of epileptogenic foci revealed cortical dysplasia of …Taylor-type. We discuss the association of cortical dysplasia with Dravet syndrome and consider the utility of palliative surgical therapy in a genetically based epilepsy syndrome. Show more

Keywords: Dravet syndrome, severe myoclonic epilepsy of infancy, epilepsy surgery, cortical dysplasia

DOI: 10.3233/JPN-2011-0508

Citation: Journal of Pediatric Neurology, vol. 9, no. 4, pp. 479-481, 2011

Authors: Mordekar, Santosh R. | Rittey, Christopher D. | Connolly, Daniel J. | Baxter, Peter S.

Article Type: Research Article

Abstract: We describe four children with an apparently unique form of easily treatable early onset epilepsy. All had an unremarkable family history, pregnancy and delivery. One child presented with neonatal seizures. None of them had neonatal jaundice. They presented with developmental impairment, cortical visual agnosia or squint, and clusters of epileptic spasms [3] beginning in infancy. Electroencephalogram showed features of modified (atypical) hypsarrhythmia. Neuroimaging in infancy showed unilateral or bilateral signal changes in …the globus pallidus. All infants were treated with high dose vigabatrin (VGB). The seizure disorder responded well to treatment and VGB was discontinued. Repeat magnetic resonance imaging brain scan showed complete resolution of the signal changes in the globus pallidi. All remained seizure free but continued to show severe intellectual disability. We suggest that VGB treatment was associated with "reversible" signal changes in the globus pallidi in these children. Show more

Keywords: Vigabatrin, epilepsy, basal ganglia, MRI

DOI: 10.3233/JPN-2012-0522

Citation: Journal of Pediatric Neurology, vol. 9, no. 4, pp. 483-487, 2011