Journal of Pediatric Neurology - Volume 5, issue 2

Authors: Narchi, Hassib

Article Type: Research Article

Abstract: Febrile convulsions are common. Although they have an excellent long-term prognosis regarding the risk of epilepsy later in life, the main challenge posed upon presentation is whether a lumbar puncture is indicated in very young children. Despite several authoritative guidelines over the past 15 years, there is still no consensus, with seemingly contradictory recommendations. In addition, the practice varies considerably among health care workers with a trend toward fewer lumbar punctures being performed. The …epidemiology of bacterial meningitis has also changed considerably over the past two decades, both in its overall prevalence and also in the bacterial etiology. We believe that all these reasons provide the opportunity to critically review the available evidence for the likelihood of bacterial meningitis presenting as an isolated febrile convulsion. We also wish to estimate its true prevalence, grading the level of that evidence for this practice and also identify subgroups where meningitis is more likely. Finally, since most guidelines are based on the assumption that normal cerebral spinal fluid results would confidently exclude bacterial meningitis, we address the validity of this assumption. Following the critical review, modified guidelines are suggested, with support of grading of the level of evidence behind them and of the strength of those recommendations. Show more

Keywords: Febrile convulsion, lumbar puncture, bacterial meningitis

Citation: Journal of Pediatric Neurology, vol. 5, no. 2, pp. 87-92, 2007

Authors: Campos, José Guevara | de Guevara, Lucía González

Article Type: Research Article

Abstract: We reviewed the etiology, clinical symptoms, differential diagnosis, treatment and prognosis of the Landau-Kleffner syndrome. The Landau-Kleffner syndrome is a rare syndrome of unknown etiology. Onset occurs between 18 months and 13 years of age, with three-fourths of the cases appearing before the age of 7 years. Most patients appeared normal before the onset of the syndrome. The loss of acquired language is usually total, but nonverbal skills are generally completely or at least relatively preserved. …Clinical seizures are experienced by 70% of patients at some time, although they do not necessarily appears at very beginning of disorder. Paroxysmal electroencephalography abnormalities are often very marked; such abnormalities tend to increase during slow wave sleep, often producing continuous spike and waves during slow wave sleep. Other characteristics associated with this syndrome include neurobehavioral symptoms such as autistic behavior, various degrees of cognitive regression and motor disorders. Treatment with standard anti-epileptic drugs is typically not effective. Adrenocorticotropic hormone is currently preferred due to its clinical and electroencephalographic efficacy. The prognosis is uncertain. Significant improvement is observed in most cases, although moderate or permanent speech deficiencies typically persist. Since proper treatment of Landau-Kleffner syndrome, once identified, can have profound consequences on a child's language development, it is important for the clinician to evaluate any child with alterations of speech development without a cause with an electroencephalogram that includes recording during sleep. Show more

Keywords: Landau-Kleffner syndrome, epileptic aphasia, adrenocorticotropic hormone, autism

Citation: Journal of Pediatric Neurology, vol. 5, no. 2, pp. 93-99, 2007

Authors: Reavey-Cantwell, John F. | Dettorre, Rebecca R. | Quisling, Ronald G. | Mericle, Robert A.

Article Type: Research Article

Abstract: No proven medical therapy exists for the treatment of moyamoya disease. Case reports have suggested that calcium channel blockers may be beneficial, potentially improving cerebral blood flow through a vasodilatory effect. The first objective of this pilot study was to prospectively evaluate whether intraarterial nitroglycerin, a potent vasodilator, could improve angiographic cerebral circulation in moyamoya patients. The second objective was to monitor the safety profile of transdermal nitroglycerin in our cohort of …patients. Intraarterial nitroglycerin was infused in five patients with moyamoya disease at escalating doses. Angiography was performed before and after the nitroglycerin infusion. Pre- and post-infusion angiograms were compared for angiographic improvement. The contralateral side was used as an internal control in patients with unilateral moyamoya disease. The patients were then placed on a transdermal nitroglycerin patch and followed with serial neurological exams, blood pressure measurements, and either follow-up angiography or single photon emission computed tomography scans. All five patients had evidence of angiographic improvement after nitroglycerin infusion in the affected arteries, but no change was identified in the control arteries of patients with unilateral disease. No patient had adverse effects from either intraarterial or transdermal nitroglycerin. This small pilot study demonstrates angiographic improvement after intraarterial nitroglycerin in affected moyamoya arteries, but not in control arteries in the same patients, if present. There were no complications associated with transdermal nitroglycerin in these patients. Show more

Keywords: Moyamoya, nitroglycerin, angiography, vasodilation, pediatric cerebrovascular disease

Citation: Journal of Pediatric Neurology, vol. 5, no. 2, pp. 101-109, 2007

Authors: Thirumalai, Shanti | Gray-Holland, Susan | Shah, Namrata S.

Article Type: Research Article

Abstract: Stuttering is a common developmental problem that usually remits spontaneously. In many children with persistent severe stuttering "secondary stuttering behaviors" are seen. These physical concomitants include involuntary facial, eye, mouth, neck, shoulder, limb, trunk and pelvic movements and, sometimes, adventitious sounds. We retrospectively analyzed videotapes of nine boys with severe persistent developmental stuttering recorded at their initial evaluation. Secondary stuttering behaviors were noted in all children. In six of the nine children, …these movements and sounds were identified even during times when the child was not attempting to speak. For example, these behaviors were identified when the child was relaxed and playing quietly with a parent. These persistent involuntary movements are essentially motor and vocal tics. These observations suggest that we may be overlooking Tourette syndrome in children with persistent developmental stuttering. Show more

Keywords: Persistent developmental stuttering, Tourette syndrome, tics

Citation: Journal of Pediatric Neurology, vol. 5, no. 2, pp. 111-115, 2007

Authors: Śmigielska-Kuzia, Joanna | Sobaniec, Wojciech | Kulak, Wojciech | Zawada, Bożena | Paszko, Grażyna | Boćkowski, Leszek

Article Type: Research Article

Abstract: Impaired antioxidant mechanisms lead to an increase in free radicals and may induce a number of pathophysiological processes resulting in cell injury. Thus, any abnormality in antioxidant systems could affect neurodevelopmental processes and could have an important role in the pathogenesis of Down syndrome (DS). The plasma levels of lipid peroxidation factors such as plasma levels of malondialdehyde, activities of superoxide dismutase, glutathione peroxidase, and glutathione reductase in serum were investigated in …41 DS children and were compared with 61 healthy controls. Superoxide dismutase, glutathione peroxidase and glutathione reductase activities were spectrophotometrically assayed. Serum activities of superoxide dismutase and glutathione reductase did not differ significantly between DS children and the control group. Malondialdehyde concentrations did not differ statistically between the DS children and healthy subjects. We found a significant increase of glutathione peroxidase activity in the sera of children with DS compared to the controls. Our results suggest that an increase in serum glutathione peroxidase activity could be a suitable protective mechanism against peroxidation processes in DS patients. Show more

Keywords: Down syndrome, antioxidant enzymes, lipid peroxides

Citation: Journal of Pediatric Neurology, vol. 5, no. 2, pp. 117-120, 2007

Authors: Teber, Serap | Uysal, Zümrüt | Akar, Nejat | Deda, Gülhis

Article Type: Research Article

Abstract: We aimed to investigate whether prothrombotic risk factors are more common in pediatric patients suffering from migraine than in the general population and compare the efficacy of prophylactic treatment with acetylsalicyclic acid (i.e., aspirin) and propranolol to ascertain whether acetylsalicyclic acid has additional efficacy over propranolol in migraine patients because of its antiplatelet property. Twenty-eight children aged 6 years through 16 years old affected by migraine with and without aura were included …in the study. Factor V Leiden mutations, prothrombin 20210 mutations and factor VIII, factor IX, von Willebrand factor, antithrombin III, fibrinogen, homocysteine and lipoprotein A levels were determined. With the exception of antithrombin III deficiency, there was no increased prothrombotic risk factor in our migraine patients as compared to controls. Propranolol was clearly superior to acetylsalicyclic acid in decreasing the number of attacks. The duration and severity of headaches were also decreased in the propranolol group but this was not statistically significant. Therefore, we conclude that if there is no family history of stroke and/or if the patient does not have complicated migraine, routine investigation for prothrombotic risk factors is not indicated in children with migraine. Propranolol can be recommended as a first line drug for the prophylaxis of childhood migraine. Show more

Keywords: Childhood migraine, prothrombotic risk factors, prophylactic therapy, acetylsalicyclic acid, propranolol

Citation: Journal of Pediatric Neurology, vol. 5, no. 2, pp. 121-126, 2007

Authors: Alawneh, Mahmoud | Ajlouni, Saleh | Trawneh, Rawan | Daoud, Azhar

Article Type: Research Article

Abstract: Our purpose is to describe the clinical, neuroradiologic features and outcome of patients with acute encephalomyelitis (ADEM) from Jordan, a developing country, and to compare the findings to other reports from the developed and developing countries. A retrospective review was conducted of the medical records and magnetic resonance imaging (MRI) findings of children who presented to any of the three hospitals that were involved in the study in Jordan from 2002 to 2005. Eleven children were …diagnosed with ADEM by clinical and MRI findings. All were treated with steroids and evaluated at 6–24 month follow-up. Three of the children (27% presented with a history of recent upper respiratory tract infection, but none presented with a recent history of vaccination. Prodromal signs and symptoms were reported in only six (55% of the children. All the children except one had a motor deficit. Only three (27% of the children had abnormal cerebrospinal fluid (CSF) findings and eight had normal results. MRI lesions were most commonly bilateral and asymmetric but varied in shape and size. The use of methylprednisolone was usually associated with reasonable recovery. Nine patients (82%) recovered completely while two children recovered with sequelae. Compared to reports from developed countries, this series has a lower prevalence of preceding non-specific infection and a higher prevalence of normal CSF findings. These findings may be related to a difference in etiologic pathogens. Therefore, a larger regional multicenter study is highly recommended. Show more

Keywords: Encephalomyelitis, children, Jordan

Citation: Journal of Pediatric Neurology, vol. 5, no. 2, pp. 127-131, 2007

Authors: Çaksen, Hüseyin | ünal, Özkan | Yılmaz, Cahide | Güven, Ahmet Sami | Özen, Özlem

Article Type: Research Article

Abstract: In this study, cranial computerized tomography (CT) and/or magnetic resonance imaging (MRI) findings were investigated in nine children with acute herpes simplex encephalitis (HSE). HSE was confirmed by polymerase chain reaction. Our purpose was to evaluate the diagnostic value of CT and MRI in the diagnosis of HSE and to determine the widespread of the cranial abnormalities in HSE in childhood. Cranial CT was examined in all children and found to be normal in four children. …Cranial MRI was examined in seven children, of whom, three was normal. Temporal involvement was diagnosed in only two children. Our findings revealed that the range of cranial involvement was fairly variable in childhood HSE; aside from typical temporal involvement, cranial images may be normal or widespread involvement including basal ganglia, thalamus, frontal and parietal lobes may be seen in children with HSE. Show more

Keywords: Herpes simplex encephalitis, computerized tomography, magnetic resonance imaging

Citation: Journal of Pediatric Neurology, vol. 5, no. 2, pp. 133-135, 2007

Authors: Omran, Mohammadreza Salehi | Juibary, Ali Ghabeli

Article Type: Research Article

Abstract: Tuberous sclerosis (TS) is an autosomal dominant disorder with a significant range of clinical expressions. The involvement of vital organs, such as the brain, kidney, heart and lung is the main cause of death in patients with TS. The aim of this study is to summarize the characteristic cutaneous features and common extracutaneous involvement of TS, which are helpful to the early detection of visceral involvement. The analyzed clinical data from 10 patients with TS included …those from detailed history, physical and dermatological examination, cranial computed tomography and magnetic resonance imaging, abdominal ultrasonography, chest roentgenography, and ophthalmologic examination. The skin, brain and electroencephalography were involved frequently in TS patients. Hypomelanotic macules were the most common and earliest cutaneous lesions. There were two facial angiofibromas and no Shagreen's patch in our patients. Cranial computed tomography showed a high positive rate including periventricular and Monro foramen calcification in TS patients. Hypsarrhythmia was the most common abnormality on electroencephalography background. Cutaneous features of TS are helpful in the early diagnosis of the disease. Hypomelanotic macules are especially important for patients with epilepsy or babies whose number of hypomelanotic macules is more than three. Cranial computed tomography is of great value in the diagnosis of TS. The involvement of visceral organs such as the brain and kidney should be considered in TS patients. Show more

Keywords: Tuberous sclerosis, skin manifestations, electroencephalography

Citation: Journal of Pediatric Neurology, vol. 5, no. 2, pp. 137-141, 2007

Authors: Lehwald, Lenora M. | Renaud, Deborah L. | Campeau, Norbert G. | Babovic-Vuksanovic, Dusica

Article Type: Research Article

Abstract: Hutchinson-Gilford progeria syndrome is an autosomal dominant condition, which presents in early childhood with symptoms of premature aging and early death. The allelic disorder, mandibuloacral dysplasia is a disorder with progeroid facial appearance, mandibular hypoplasia and acro-osteolysis. These two diseases have been considered different clinical entities based on differences in phenotype and inheritance pattern but are both due to mutations in the lamin A/C (LMNA) gene. Differentiating the diseases clinically can be …difficult due to their overlapping features and yet has important life expectancy implications as well as vastly different genetic counseling requirements. Our patient presents with a mixed clinical picture. The desire for diagnostic certainty is not only to understand his prognosis but also to determine the risk to his siblings and assist in family planning. Based on the clinical overlap between the Hutchinson-Gilford progeria syndrome and mandibuloacral dysplasia, we analyzed the LMNA gene in this patient. When a heterozygous change was identified, the parents were analyzed for the mutation. Deoxyribonucleic acid analysis for the LMNA gene revealed a heterozygous G to A change at nucleotide 412 in exon 2 of the LMNA gene resulting in replacement of glutamic acid with lysine at codon 138 (412 G>A; glu138lys). Neither parent had a mutation. Our results show that codon 138 (412 G>A; glu138lys) is a newly identified mutation of LMNA gene that results in a progeroid syndrome which is phenotypically similar to mandibuloacral dysplasia. Show more

Keywords: Progeria, mandibuloacral dysplasia, lamin A/C

Citation: Journal of Pediatric Neurology, vol. 5, no. 2, pp. 143-148, 2007