Journal of Pediatric Neurology - Volume 10, issue 4
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Journal of Pediatric Neurology is an English multidisciplinary peer-reviewed medical journal publishing articles in the fields of child neurology, pediatric neurosurgery, pediatric neuroradiology, child psychiatry and pediatric neuroscience.
Journal of Pediatric Neurology encourages submissions from authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, rapid communications, case reports, letters to the editor and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines that work in the field of pediatric neurology.
Abstract: Mitochondria are important intracellular organelles that are widely distributed and have a central role in metabolic activity. Production of adenosine triphosphate by oxidative phosphorylation, is the principal function of mitochondria. Defects of mitochondrial metabolism cause a wide range of human diseases. They may present as single or multisystem disease at any age. Treatment of mitochondrial disorders is a challenge, as there is only symptomatic therapy available. As few randomized and controlled studies are…published, much of the experience of the treatment of mitochondrial disease is based upon anecdotal reports and small case series, which demonstrate effect of some of the measures available. In this paper, we review the various treatments studied and practiced in the context of mitochondrial disorders. We will also outline the evidence in favor or against them.
Abstract: We studied the prevalence, disability and outcome of medically unexplained neurological symptoms (MUNS) in children/adolescents admitted to a tertiary pediatric neurology centre, within the framework of WHO's international classification of functioning disability and health. Of the 652 admissions over 2007?2009, 82 episodes of admissions (12.6%) in 52 (35 females; median age 13; range 6?17 yr) documented to have MUNS original cohort (OC) were studied; of which 25 (49%) were re-evaluated using questionnaires after a…minimum of 2 yr following their discharge follow-up cohort (FC). The predominant manifestations in OC were loss of neurological function n = 27, paroxysmal events n = 14, pain syndrome n = 4, others n = 7. The majority of the FC (21/25; 84%) had ongoing neurological symptoms, of which it remained the same pattern in four, became worse (two) and improved (five). Four expressed new, additional symptoms. Among the OC, 29(56 %) had impaired mobility and 25 (48%) had poor school attendances. Among the FC, eight of the 14 (58%) with impaired mobility showed good improvement, whereas none with good mobility deteriorated. Similarly, 11/15 (73%) with poor school attendances showed improvement with attendances to full time education or employment. In the OC, utilization of resources was high. In the FC, no alternative neurological (or psychiatric) diagnosis was, given in any. Over half of adolescents and families expressed that their experience to multi-disciplinary team assessment was helpful. Despite persistence of symptoms in the majority, our two-year outcome data from the studied cohort shows improvement in daily activities and participation in two-thirds.
Keywords: Medically unexplained neurological symptoms (MUNS), International classification of functioning disability and health
(ICF), multidisciplinary team (MDT)
Abstract: Preliminary analysis in 1995 suggested that > 80% deaths (n=1,500) and > 88% (n=1,500) of the complications/sequel of acute encephalitis syndrome that have no specific treatment (AESn) could have been prevented by reducing the transport time of patients and providing timely basic care by improving rural health services. In order to investigate the effect of preferential strengthening of primary and secondary care hospitals (PSCH) versus preferential strengthening of tertiary care hospitals (TCH) on case fatality rate…(CFR) of AESn, a record based study of AESn from 1994 to 2011 from Uttar Pradesh state of India (UP) (34,841 cases with 6,962 deaths) and Nepal (30,670 cases with 3,436 deaths) was done. PSCH were strengthened since 1996, in both cohorts. Recurrent AESn epidemics with high CFR in UP led to preferential improvement of TCH since 2004. Outcome measure was survival or death within 6 mo. Time series analysis followed by Chow test showed that there was a statistically significant increase in CFR of UP at 99.9% confidence level. Odds ratio of CFR in UP was about 1 until 2003 and then progressively increased to 26.37 in 2011 at a P value of 0.000. Confounding variables were excluded. Clinical significance was confirmed. Though strengthening of either PSCH or TCH decreased the CFR, the former reduced it a greater extent (96.41%) and the latter to a lesser extent (20.07%). The risk of death decreased with preferential improvement of PSCH and increased with preferential improvement of TCH. This study can guide policy decisions of governments.
Keywords: Incidence rate, health policy, primary care, rural health services, tertiary care, Chandipura encephalitis, stroke, epidemic brain attack
Abstract: The childhood spinal muscular atrophy (SMA) is classified into three groups based on the age of onset and clinical course. The aim of this study was to define the correlation between genotype and phenotype in Iranian patients with SMA. Molecular analysis was carried out on two candidate genes of survival motor neuron one (SMN1), and neuronal apoptosis inhibitory protein (NAIP) in 189 patients with SMA (130 patients with SMA type I, 32 patients with type II…and 27 patients with type III) and the phenotypic features of SMA were compared with the deletion pattern of these genes. Polymerase chain reaction along with restriction fragment length polymorphism analysis were used to detect the deletion of exons 7 and 8 of SMN1 gene, as well as multiplex polymerase chain reaction for exon 5 of NAIP gene. Deletion in exon 7 was detected in 167 patients (88.4%); deletion in exon 8 was detected in 162 patients (85.7%) and deletion in exon 5 of NIAP gene was detected in 95 patients (50.3%). Deletion of exons 7 and/or 8 of SMN1 were detected in 90%, 84.4%, and 88.9% in patients with types I, II and III SMA, respectively. The prevalence rates of exon 5 deletion in NAIP gene was 66.9%, 12.5%, and 14.8% in types I, II and III SMA patients, respectively (P < 0.001). Combined homozygous deletion in both SMN1 and NAIP genes was found in 65.4% SMA type I, 12.5% SMA type II and 14.8% SMA type III (P < 0.001). There was a significant correlation between combined deletion of both SMN1 and NAIP genes and clinical subtypes of SMA patients.
Keywords: Spinal muscular atrophy, survival motor neuron gene, neuronal apoptosis inhibitory protein gene, genotype and phenotype correlation
Abstract: Prolonged antiepileptic drugs (AEDs) treatment can result in secondary carnitine deficiency. Clinical studies indicate a decrease in free and total carnitine levels in children treated with old-generation AEDs (especially valproate). A number of studies on the effect of valproic acid and/or other AEDs on carnitine concentrations yielded contradictory results. The effect of new AEDs as oxcarbazepine and lamotrigine on carnitine metabolism has not been reported previously. The aim of this study was to evaluate the…plasma carnitine level in children with idiopathic epilepsy treated with old AEDs (valproic acid and carbamazepine) and new AEDs (lamotrigine and oxcarbazepine). Fifty children with newly diagnosed idiopathic epilepsy were selected from those attending the pediatric neurology out-patient clinic at Tanta University Hosptial. Thirty-four males and 16 females were enrolled in the study with the mean age was (6.8 ± 3.1 yr). Patients were grouped according to their antiepileptic treatment into: group 1, 20 patients received valproic acid as monotherapy with no prior AEDs use. Group 2, 10 patients received valproic acid as polytherapy after 3 mo treatment with carbamazepine. Group 3, 10 patients received lamotrigine as monotherapy, and group 4, 10 patients received oxcarbazepine as monotherapy. Twenty healthy children served as control group with mean age was (8.5 ± 2.3 yr). Estimation of the plasma carnitine levels were done for all the studied groups. Group 1 and group 2 epileptic children, treated with valproic acid monotherapy and polytherapy respectively had significantly lower plasma carnitine levels than that of the control group (P < 0.05). There was significant correlation between the age and the plasma carnitine in group 1 and group 2 epileptic children, the younger the age the greater the reduction in the plasma carnitine levels. Patients treated with valproic acid polytherapy had significantly lower plasma carnitine levels than those of the patients treated with valproic acid monotherapy (P < 0.05). There was no significant difference in the plasma carnitine levels between the controls and children with epilepsy treated with oxcarbazepine and lamotrigine (P > 0.05). In conclusion, carnitine deficiency is not uncommon among children with epilepsy and is mainly linked to valproate therapy. In contrast, new-generation AEDs probably do not cause carnitine deficiency. These findings suggest a need to monitor serum carnitine levels in children treated with valproic acid therapy.
Keywords: Carnitine, children, epilepsy, antiepileptic drug
Abstract: Infantile spasms is one of the epileptic encephalopathies. These have a variety of established etiological factors, but in a subset of cases, the underlying cause is not evident despite extensive investigations. These cases are referred to as idiopathic or cryptogenic infantile spasms. We report on two cases where the etiology was established by high-resolution array-comparative genomic hybridization as a de novo deletion in the STXBP1 gene. We propose to include high-resolution array-comparative genomic…hybridization as a part of the diagnostic evaluation program in patients with infantile spasms with an unknown etiology. Establishment of the etiology has important implications for prognosis and genetic counseling.
Abstract: Guillain-Barré syndrome (GBS) manifests clinically as an acute onset of generalized symmetrical and ascending weakness of the limb muscles with areflexia. Several variant forms of the disease with unusual distribution of muscles involvement have been described. Pharyngeal-brachial-cervical form of the disease is one of rare variants of GBS and only a few of cases have been reported in children. Here we report a 13-month-old boy, who developed acute weakness of pharyngeal, bulbar, cervical and upper limb…weakness and the initial diagnostic work up were done to rule out acute brain stem stroke. We concluded that, while taking all other etiologies into consideration, pharyngeal-cervical-brachial variant of GBS should be considered in patient's symptoms with acute bulbar and upper extremity weakness in order to institute appropriate early management.
Keywords: Guillian-Barré syndrome, pharyngeal-cervical-brachial, computed tomography, magnetic resonance imaging, magnetic resonance angiography
Abstract: Conversion disorder is characterized by the presence of one or more medically unexplained neurological symptoms and signs, which can manifest in all ages including children. In such cases, a stressor or conflict either initiates or exacerbates the condition. We present here a unique case of psychogenic movement disorder which was associated with injuries and when underlying stressors were identified, symptoms resolved with psychological treatment alone.
Keywords: Conversion disorder, tic disorder, psychogenic, movement disorder
Abstract: We report an 8-year-old female who developed left abducens nerve palsy and progressively enlarging left internal carotid aneurysm in the setting of sphenoid sinusitis. Despite conservative management with antibiotics and antiplatelet agent, she developed enlargement of the aneurysm with embolic stroke. For that reason, she underwent occlusion of her left internal carotid artery with coiling, after confirmation of good collateral circulation. The patient tolerated the procedure well, with improvement of her symptoms. To our…knowledge, this is the first report documenting good neurological outcome after elective internal carotid occlusion. Due to lack of guidelines, management of aneurysms secondary to infection should be individualized, based on collateral circulation and risk of intervention.
Abstract: Herpes simplex virus (HSV) type 1 frequently causes fulminant encephalitis and it is the most common etiological agent for sporadic encephalitis in the developed world. We report a case of HSV encephalitis in a 7-month-old infant with bilateral thalamic involvement. Thalamic involvement has been reported in HSV encephalitis, more commonly in infants and young children compared to adults. But the implications of thalamic involvement in HSV encephalitis are not clearly known. Using Medline, we reviewed all…the published pediatric cases of HSV encephalitis with thalamic involvement. Twenty-nine cases met our inclusion criteria. Out of 30 patients (including our patient), 14 patients had bilateral thalamic involvement and 16 had lesion on one side. Ten patients had at least one relapse. Six of them developed movement disorder. One patient died, two had complete recovery of the symptoms but majority of the patients developed neurological sequelae.
Abstract: A 16-year-old patient presented with three presyncopal episodes, muscle weakness, elevated creatine kinase and myopathic changes on electromyography, was diagnosed with Addison's disease through laboratory testing. Corticosteroid replacement produced marked improvement in muscle strength and normalized creatine kinase levels. In children, low corticosteroid state should be considered in the differential diagnosis of a myopathy, particularly in the setting of other signs and symptoms of adrenal insufficiency. To our knowledge, this is the…first case report of a myopathy as the initial presentation of Addison's disease in this age group.
Abstract: Posterior reversible encephalopathy syndrome (PRES) is a recently described clinic-radiological entity. It has been associated with a number of medical conditions, such as eclampsia, arterial hypertension, renal failure, and vasculitis. Drugs causing immunosuppression such as cyclosporine A, tacrolimus, cancer chemotherapy, and steroids have been implicated in the etiology of PRES. Its pathogenesis remains poorly understood. Clinical findings are not sufficiently specific; however, neuroimaging is often characteristic. Few cases of PRES were reported…in children who were treated for cancer, most of whom had acute lymphoblastic leukemia. This case-report describes PRES following allogeneic bone marrow transplantation in a child with acute lymphocytic leukemia.