Journal of Pediatric Neurology - Volume 8, issue 2

Authors: Gordon, Neil

Article Type: Research Article

Abstract: The Churg-Strauss syndrome is a small vessel vasculitis associated with asthma and eosinophilia. It can sometimes present in unusual ways such as mononeuritis multiplex or subarachnoid hemorrhage. The various symptoms and signs are discussed, such as fever, skin lesions and allergic rhinitis. The sudden onset of blindness and deafness can occur. Cardiac involvement is common, but central nervous system lesions are rare. The diagnosis of the syndrome is based on clinical findings such as asthma, eosinophilia, …neuropathy, and sinusitis, and it can certainly mimic conditions such as the Guillain-Barré syndrome. The cause of the syndrome is uncertain, but studies have suggested that it may well be an autoimmune disease. However, an allergy may be only one of several mechanisms triggering symptoms. There seems to be no doubt that certain drugs, notably leukotriene-receptor antagonists, can be to blame, and so can eotoxin-3. Symptoms can respond to treatment with immunosupressive drugs, and since their introduction, the survival rate has been markedly increased. Trials with other drugs, such as rituximab and omalizumab are reported. In cases of intractable asthma, the diagnosis of this syndrome should be considered. Show more

Keywords: Churg-Strauss syndrome, symptoms, diagnosis, causes, treatment

DOI: 10.3233/JPN-2010-0385

Citation: Journal of Pediatric Neurology, vol. 8, no. 2, pp. 131-133, 2010

Authors: Castro-Gago, Manuel

Article Type: Research Article

Abstract: On the basis of the physiopathological mechanisms involved in the brain damage related to hypoxic-ischemic encephalopathy of the newborn, a number of metabolic parameters have been studied with the aim to provide an early and reliable marker of tissue injury for diagnostic and prognostic purpose. Some authors have even suggested that biochemical indicators may be more effective than the results of clinical, Apgar score, pH in cord blood, electroencephalographic and neuroimaging data. In the present review, …we discuss the diagnostic and prognostic value of a series of biochemical parameters, with special reference to the diagnosis of neonatal hypoxic-ischemic encephalopathy. For methodological purpose the exposition is structured in the following sections: creatine kinase isoenzymes; lactate; lactate dehydrogenase, aspartate aminotransferase and hydroxibutirate dehydrogenase; excitatory amino acids; glial fibrillary acidic protein; cytokines; neuron-specific enolase; oxypurines; cyclic adenosine monophosphate; and others. The current role of the above mentioned biochemical parameters as predictors of brain damage and the future perspectives on this topic are discussed. Show more

Keywords: Biochemical marker, neuronal damage, hypoxic-ischemic encephalopathy, prediction

DOI: 10.3233/JPN-2010-0384

Citation: Journal of Pediatric Neurology, vol. 8, no. 2, pp. 135-149, 2010

Authors: Balcerzyk, Anna | Zak, Iwona | Sarecka-Hujar, Beata | Niemiec, Pawel | Kopyta, Ilona | Emich-Widera, Ewa

Article Type: Research Article

Abstract: Ischemic stroke in children is rare when compared to adults; however, it is still among the 10 top causes of death in childhood and is more common than brain tumors. The pathology and the risk factors of stroke in children still remains poorly understood. Previous studies on Polish children after ischemic stroke showed that about 70% of them had dyslipidemia. Thus, looking for genetic factors associated with ischemic stroke in children, we decided to analyze some …polymorphisms in genes involved in lipid metabolism. The aim of the study was to evaluate the possible association between the R219K polymorphism of the ABCA1 gene and the Q192R polymorphism of the PON1 gene and ischemic stroke in children. The study population consisted of 250 individuals, white Polish Caucasians, including 60 children with ischemic stroke, 120 their biological parents and 70 children without any signs of ischemic stroke. Polymorphisms were genotyped using the polymerase chain reaction-restriction fragments length polymorphism method. To analyze the possible association between the studied polymorphisms and stroke the transmission/disequilibrium test and the case-control model were used. We did not observe any preferential distribution of any allele of the analyzed polymorphisms from parents to the affected children. The number of transmitted alleles of both genes did not differ significantly from expected 50%:50%. There were also no significant differences in genotypes and alleles distribution between patients and control children. The results of our study suggest that neither the R219K polymorphism of the ABCA1 gene nor the Q192R polymorphism of the PON1 gene may be regarded as genetic risk factors for ischemic stroke in Polish children. Show more

Keywords: Stroke, children, paraoxonase 1 gene, ATP-binding cassette transporter 1 gene, polymorphism

DOI: 10.3233/JPN-2010-0386

Citation: Journal of Pediatric Neurology, vol. 8, no. 2, pp. 151-156, 2010

Authors: Schell-Apacik, Chayim Can | Ertl-Wagner, Birgit | Hehr, Ute | von Voss, Hubertus

Article Type: Research Article

Abstract: Mutations in sonic hedgehog (SHH; OMIM *600725) and the aristaless-related homeobox gene (ARX; OMIM *300382) can both result in severe brain malformation. Haploinsufficiency of SHH has been shown to cause not only midline structure defects such as holoprosencephaly, corpus callosum agenesis but also developmental delay and/or craniofacial dysmorphic features including microcephaly, hypotelorism, or a single central incisor. Mutations in the ARX gene may result in different phenotypes as well, such as …X-linked mental retardation (XLMR; OMIM #300419), X-linked lissencephaly with ambiguous genitalia (XLAG; OMIM #300215), Partington syndrome (OMIM #309510), X-linked myoclonic epilepsy (OMIM #300432), X-linked West syndrome (OMIM #308350), and agenesis of the corpus callosum with abnormal genitalia (OMIM #300004). In a total number of 27 patients with complete or partial absence of the corpus callosum, SHH and ARX genes were investigated in order to evaluate whether mutations in SHH and ARX result in partial (dysgenesis) or complete (agenesis) absence of the corpus callosum. No causative mutations could be detected suggesting that these genes may not play a major role in corpus callosum formation. Show more

Keywords: Sonic hedgehog, aristaless-related homeobox gene, agenesis and dysgenesis of the corpus callosum

DOI: 10.3233/JPN-2010-0387

Citation: Journal of Pediatric Neurology, vol. 8, no. 2, pp. 157-162, 2010

Authors: Suliman, Omer S.M. | Khedr, Mohammed A. | Al Ruthae, Mohammed S.

Article Type: Research Article

Abstract: To describe the clinical, radiological and biochemical features of 18 new Saudi Arabian children with the carbonic anhydrase II deficiency syndrome, who have been in follow up at Al-Rass General Hospital in the period from September 2004 to September 2008. The medical records of these children were reviewed. The diagnosis was based on the typical clinical, radiological and biochemical evidence of the disease. These patients had characteristic clinical features, which include typical facial appearance and growth …and psychomotor retardation. All patients had renal tubular acidosis (the majority have distal renal tubular acidosis) and metaphyseal osteopetrosis. Intracerebral calcifications were reported in 9 out of the 15 children in whom cranial tomography scan of the brain was performed. Half had nystagmus, about half had squint, another half had visual impairment and two patients had optic atrophy and total blindness. Two patients had hepatosplenomegaly with anemia and thrombocytopenia due to bone marrow involvement. Four patients had spastic quadriplegia and three patients had pectus carinatum. The median age of diagnosis was significantly lower than that reported, and two of the patients reported in this study represent the first two cases to be diagnosed at birth. Their intrauterine growth was normal, however radiological evidence of osteopetrosis were reported at birth, but renal acidosis developed at around 2 weeks of age. The syndrome of carbonic anhydrase II deficiency is prevalent in this region of Saudi Arabia. The disease has serious complications and early diagnosis is important. This series included the first two cases that were diagnosed at birth and also showed that central nervous system complications are common presentation of this syndrome. Show more

Keywords: Osteopetrosis, renal tubular acidosis, intracranial calcification, carbonic anhydrase II deficiency

DOI: 10.3233/JPN-2010-0395

Citation: Journal of Pediatric Neurology, vol. 8, no. 2, pp. 163-174, 2010

Authors: Al Khayat, Hamed A. | Awadalla, Maha M. | Al Wakad, Amany | Marzook, Zehan A.

Article Type: Research Article

Abstract: We aimed to assess serum levels of polyunsaturated fatty acids (PUFAs) and therapeutic response to omega 3 PUFAs supplementation in children with idiopathic intractable epilepsy. The study was done between November 2007 and December 2008 in the pediatric neurology clinic of Ain Shams University hospitals, Cairo. It comprised 20 children with idiopathic intractable epilepsy on antiepileptic drug polytherapy and twenty healthy age and sex matched controls. Serum levels of alpha-linolenic acid (ALA) (omega-3), …eicosapentaenoic acid (EPA) (omega-3), docosapentaenoic acid (DPA) (omega-3), decosahexaenoic acid (DHA) (omega-3), linoleic acid (LA) (omega-6) and arachidonic acid (omega-6) were assessed by gas liquid chromatography. Prior to oral PUFAs supplementations, patients with intractable epilepsy had lower levels of DHA, DPA and higher levels of ALA, EPA and LA compared to controls. After 6 months of oral PUFAs supplementation, compared with healthy controls, levels of DHA was increased while, ALA, LA, EPA, DPA and arachidonic acid were decreased; while comparing to levels before supplement; furthermore, there were an increase in levels of DHA, DPA as well as DHA: EPA and LA: ALA ratios and a decrease in ALA, LA and EPA levels in patients following supplementation compared to their levels prior to oral supplementation. Both the changes in serum levels of PUFAs and their ratios were accompanied by decrease in seizure frequency, duration and severity. There was a significant negative correlation between serum DHA level and seizure duration as well as seizure severity. Altered serum levels of omega three and six PUFAs were associated with uncontrolled seizures, and oral supplementation with DHA and EPA lead to better seizure control. Show more

Keywords: Intractable epilepsy, oral supplement, PUFAs, severity of epilepsy

DOI: 10.3233/JPN-2010-0398

Citation: Journal of Pediatric Neurology, vol. 8, no. 2, pp. 175-185, 2010

Authors: Shehata, Ghaydaa A. | Elsayh, Khaled I. | Mohamed, Amany O. | Rageh, Tarek A. | Rafet, Nafisa H.

Article Type: Research Article

Abstract: Over the years, several reports have demonstrated the involvement of the nervous system in patients with beta-thalassemia. In most cases, neurological involvement does not initially present with relevant signs or symptoms (i.e., subclinical). This study was designed to assess P300 and cognitive function in a group of children, who were neurologically asymptomatic children with beta-thalassemia. Thirty children with beta-thalassemia were selected from the pediatric department, hematology unit at Assiut university hospital. Another …40 apparently healthy children of the same age, sex, body mass index and social state were chosen as control. Assessment of clinical, laboratory, cognitive functions using Stanford Binet and event related potential were done. The mean age of children was 9.97 ± 3.24 years; the mean duration of illness was 8.53 ± 3.44 years. We reported significant impairment in cognitive functions compared with control group. Also significant prolongation in P200, N2 and P300 latencies, while significant decreased in P300-N2 amplitude was reported. Splenectomy and infrequent blood transfusion act as additional factors for cognitive impairment. Children with beta-thalassemia have subclinical involvement of the central neural pathway. Cognitive function and event related potentials should be done as early as possible for early detection of neural pathway impairment. Show more

Keywords: Beta-thalassemia, cognitive functions, event related potentials

DOI: 10.3233/JPN-2010-0388

Citation: Journal of Pediatric Neurology, vol. 8, no. 2, pp. 187-192, 2010

Authors: Hassanien, Sahar Mohamed | Awadalla, Maha Mohamed | Saad and, Abeer Attia | Abdel Aziz, Nesreen Adel

Article Type: Research Article

Abstract: We aimed to assess serum level of tissue plasminogen activator (tPA) in children with idiopathic epilepsy aiming to find a pathogenic relationship and correlate it with disease intractability, severity, effect of antiepileptic drug therapy and epilepsy control. The study comprised of 24 children with idiopathic epilepsy either on monotherapy or polytherapy. Sixteen children with controlled idiopathic focal and generalized epilepsy while eight were intractable to antiepileptic drugs treatment. Serum tissue plasminogen activator …was assessed in the patient group and compared to non-epileptic healthy controls; furthermore, the level of tPA was correlated to the epilepsy severity. Level of tPA was significantly increased in epileptic patients compared to controls (6.11 ± 6.11 ng/dL, and 2.61 ± 1.69 ng/dL, respectively) (P < 0.001). Among the epileptic patient group, serum level of tPA was significantly increased in the intractable group compared to the controlled focal group and controlled generalized group. Also, serum tPA was significantly increased in patients on antiepileptic drugs polytherapy compared to patients on monotherapy. Increased serum tPA level was positively correlated with the epilepsy severity (r=0.612; P< 0.001). Hence, tPA could be one of the pathogenic endogenously produced chemical substances linked to childhood epilepsy and potential marker of epilepsy intractability. Show more

Keywords: Childhood epilepsy, tissue plasminogen activator

DOI: 10.3233/JPN-2010-0383

Citation: Journal of Pediatric Neurology, vol. 8, no. 2, pp. 193-197, 2010

Authors: Kraoua, Ichraf | Youssef-Turki, Ilhem Ben | Rhouma, Hanen Ben | Fraj, Narjes | Nagi, Sonia | Rouissi, Aida | Chelly, Ines | Haouat, Slim | Hamouda, Mohamed Ben | Gouider-Khouja, Neziha

Article Type: Research Article

Abstract: Joubert syndrome and Joubert syndrome related disorders are rare autosomal recessive disorders, clinically and genetically heterogeneous characterized by cerebellar vermis hypoplasia and a peculiar midbrain-hindbrain malformation the "molar tooth sign". Clinical picture is characterized by hypotonia, ataxia, developmental delay, abnormal eye movements and occasionally by abnormal respiratory pattern in the neonatal period. Combination of additional features, such as polydactyly, ocular coloboma, retinal dystrophy, renal disease, hepatic fibrosis, encephalocele, and other brain malformations …define various clinical subtypes. We report five cases (belonging to four families) with associated elastopathy in one family. We discuss clinical heterogeneity in particular the unusual association to elastopathy in one family and absence of abnormal neonatal respiratory pattern in all five cases. Show more

Keywords: Joubert syndrome, ataxia, ocular apraxia, molar tooth sign

DOI: 10.3233/JPN-2010-0382

Citation: Journal of Pediatric Neurology, vol. 8, no. 2, pp. 199-204, 2010

Authors: Drakaki, Alexandra | Vassiliou, Georgia | Sekerli, Eleni | Dimopoulou, Despina | Topalidis, Augerinos | Koutra, Aikaterini | Iliopoulos, Dimitrios | Voyiatzis, Nikolaos

Article Type: Research Article

Abstract: The family of extra structurally abnormal chromosomes includes supernumerary small chromosomes, which are related to developmental abnormalities. The most common supernumerary index chromosome is inverted duplicated chromosome 15. Two cytogenetic types of inv dup(15) marker chromosomes have been described, each one having different phenotype. Specifically, neurological disorders have been correlated with cytogenetic description of dic(15)(q12 or q13) which contains the Prader-Willi syndrome and Angelman syndrome critical euchromatin regions. On the other hand, …cytogenetic description of dic(15)q11 heterocromatin area does not contain the Prader-Willi syndrome/Angelman syndrome critical region and children with this aberration show a normal phenotype. Here, we present the first case of 22-month-boy with cytogenetic description of dic(15)q11 and neurological problems. Specifically the patient was admitted in our department for chromosomal evaluation due to neurological problems. Diagnosis was confirmed by standard cytogenetic techniques and fluorescent in situ hybridization analysis. In addition, we did not identify any abnormal methylation pattern of the small nuclear ribonucleoprotein polypeptide N (SNRPN) locus. The presence of neurological problems in a case of dic(15)q11, suggests that probably imprinted or other genes located in this area are deregulated and it will be interesting future studies to analyze these regions for the presence of imprinted genes. Show more

Keywords: Heterochromatin, inverted duplication, chromosome 15, imprinting, neurological disorders

DOI: 10.3233/JPN-2010-0390

Citation: Journal of Pediatric Neurology, vol. 8, no. 2, pp. 205-209, 2010