Journal of Pediatric Neurology - Volume 7, issue 3

Authors: Tomoum, Hoda Y. | El-Hadidi, Eman S.

Article Type: Research Article

Abstract: Several mechanisms have been proposed to explain the weight gain associated with Valproic acid (VPA) use but it is still not clear. We aimed to investigate the effect of VPA on the level of two of the peptides involved in the regulation of the energy balance (ghrelin and resistin) in children with epilepsy and their relation to growth parameters, VPA level and characteristics of their epileptic disorder. A cross-sectional study was conducted on 34 children with …epilepsy on VPA monotherapy. Growth parameters (weight, height and body mass index) were evaluated and trough serum VPA, serum ghrelin and resistin levels were measured and results were compared to the matched controls. Ghrelin levels were significantly higher in the patients than the control group (mean 110.2 ± 41.23 pg/mL and 55.73 ± 24.9 pg/mL, respectively), while resistin levels were not different in both groups (mean 1.68 ± 1.82 ng/mL and 1.0 ± 0.22 ng/mL). Levels of resistin were high in patients with idiopathic epilepsy compared to the control group. Ghrelin and resistin levels did not show a significant correlation to growth parameters. The degree of seizure control and the VPA levels did not seem to affect the results of either hormone. In conclusion, ghrelin levels are increased in children with epilepsy in comparison to healthy controls, which may be a part of hormonal dysfunction secondary to seizures. Our results did not demonstrate a role of VPA use in the observed changes. Show more

Keywords: Ghrelin, resistin, epilepsy, valproic acid, children

DOI: 10.3233/JPN-2009-0310

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 223-229, 2009

Authors: Kumar, Sameer | Sosinski, Kiera B.

Article Type: Research Article

Abstract: Delivery of care during diagnosis and on-going treatment of childhood strokes, which impact 1 in 4000 live births, is not standardized and relies on both parents and medical professionals to be aware of stroke and stroke symptoms in order to ensure timely care. This system does break down due to the reliance on individuals. The research study utilizes Six Sigma quality approach to determine current state of service delivery from the perspective of parents or guardians …within the U.S. and propose solutions to minimize errors in diagnosis and treatment of childhood strokes. The authors of this study researched non-pharmacological treatments of childhood strokes. This study surveyed parents or guardians of children who had strokes and found areas of improvement. One major finding of the survey was that only 39% of children received a referral to a specialist when stroke symptoms were initially reported. Proposed solutions were derived from analysis of the survey data from parents or guardians in the U.S., which helped in labeling current gaps in the system and devising poka-yokes for error proofing the system. Show more

Keywords: Childhood stroke, service delivery of care

DOI: 10.3233/JPN-2009-0314

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 231-249, 2009

Authors: Ünalp, Aycan | Bayram, Erhan | Ulusoy, Sadık | Uran, Nedret | Bayram, Meral | Öztürk, Aysel Aydoğgan

Article Type: Research Article

Abstract: There are interesting evidences for the involvement of the neurotrophin brain-derived neurotrophic factor in the mechanism of epileptogenesis. In this study we measured the serum concentrations of brain-derived neurotrophic factor in children with epilepsy and age-matched healthy controls. There was no statistically significant difference between the mean serum concentrations of brain-derived neurotrophic factor in epileptic children (13.8 ± 1.1 ng/mL) and age-matched healthy controls (13.9 ± 0.1 ng/mL). The mean concentration of …serum brain-derived neurotrophic factor was not different between generalized epilepsy and partial epilepsy. We also did not find significant difference regarding the associated clinical features of epilepsy (the presence of history of febrile convulsion, cerebral palsy). However, epileptic children with mental retardation showed lower levels of brain-derived neurotrophic factor (P = 0.015). Here we studied serum brain-derived neurotrophic factor concentration in a group of children without an active epileptogenesis based on the clinical and electroencephalographic state. Brain-derived neurotrophic factor concentrations should be investigated in children with active epileptogenesis who had refractory epilepsy and epileptic encephalopathy. Show more

Keywords: Brain-derived neurotrophic factor, children, epilepsy

DOI: 10.3233/JPN-2009-0301

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 251-255, 2009

Authors: Awaad, Yasser | Michon, Anne Marie | Minarik, Sarah | Rizk, Tamer

Article Type: Research Article

Abstract: Some drugs currently used to treat tics have drawbacks, including the risk of side effects such as tardive dyskinesia. Therapeutic options with better safety profiles are needed. Levetiracetam is an antiepileptic drug with atypical GABAergic effects that might be beneficial for this indication. To evaluate the effect of levetiracetam on motor and focal tics, behavior, and school performance in children and adolescents with tics and Tourette syndrome. Twenty-four patients, age 6–18 years, with tics and Tourette …syndrome were enrolled in this prospective, double-blinded placebo randomized study for 8 weeks. Each group had 12 patients. The initial starting dose of levetiracetam was 250 mg. The dosage was titrated over 3 weeks to 1,000 to 2,000 mg. Clinical outcomes were assessed with the Clinical Global Impression Scale, Yale Global Tic Severity Scale, and Revised Conners' Scale. Ten out of 12 patients in the levetiracetam group showed improvements based on all of the scales used and four patients improved with regard to behavior and school performance. Two patients dropped out. Nine patients out of 12 patients in the placebo group showed no improvement, one patient showed a great placebo effect, and two patients dropped out of the study. Levetiracetam was generally well tolerated. Two patients discontinued because of exaggeration of pre-existing behavioral problems. Levetiracetam may be useful in treating tics in children and adolescents. Given its established safety profile, levetiracetam is a candidate for additional evaluation. Show more

Keywords: Levetiracetam, Tourette syndrome, tics, adolescents, children

DOI: 10.3233/JPN-2009-0300

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 257-263, 2009

Authors: Khedr, Eman H. | Hamed, Sherifa A. | Mohammed, Gaafar A. | El Attar, Amal H.

Article Type: Research Article

Abstract: Prediction of neurological sequelae following hypoxic-ischemic encephalopathy is difficult. In the present study, the prognostic value of multimodal evoked potentials including visual evoked potentials (VEPs), auditory brainstem responses (ABRs) and somatosensory evoked potentials, recorded within the first week after birth, was determined in relation to adverse neurological outcome for 20 asphyxiated term-infants at 1~year of age. Five infants developed severe neurological sequelae (spastic quadriplegia, diplegia, choreoathetosis), two had delayed milestones, one died …while 12 were normal. The combined utilization of VEPs and ABRs were highly predictive for outcome, allowing 100% and 88.9% positive and negative predictive values respectively compared to 71.4% (positive predictive value) and 77% (negative predictive value) for somatosensory evoked potentials. This study confirms that evoked potentials are accurate tools and useful adjuncts to clinical assessment for predicting outcome of hypoxic-ischemic encephalopathy. Their accuracy increased when VEPs and ABRs are used concordantly. Show more

Keywords: Birth asphyxia, hypoxic-ischemic encephalopathy, evoked potential

DOI: 10.3233/JPN-2009-0315

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 265-273, 2009

Authors: Bak, Mustafa | Gökgöz, Sevim Çakar | Ünalp, Aycan

Article Type: Research Article

Abstract: Nutritional vitamin B12 deficiency in infancy is rare, and so far, case reports or few case series declared. Neurological symptoms of vitamin B12 deficiency are heterogeneous and include irritability, apathy, developmental regression, hypotonia, tremor, ataxia, seizures. We report of the clinical findings and neurological abnormalities in fifteen infants with nutritional vitamin B12 deficiency seen during the last 1 year and an attempt made to obtain short-term neurologic follow-up. All of these cases were breastfed and …maternal diet was strict vegan or poor of meat. Clinical findings and laboratory results normalized rapidly after vitamin B12 administration and fifteen children who qualified for short-term neuromotor development had well outcome. We emphasized here the early diagnosis of vitamin B12 deficiency is very important because psychomotor and mental damage could be reversible with appropriate treatment. Show more

Keywords: Vitamin B12 deficiency, neurological disorders, vegan mother

DOI: 10.3233/JPN-2009-0313

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 275-278, 2009

Authors: Shrimpton, Antony E. | Kessler, John A. | Shaffer, Lisa G. | Stack, Cindy | Jalali, Ali | Little, Robert | Goldstein, Joshua | Angle, Brad | Chary, Ajit | Coppinger, Justine | Mathison, David J. | Khan, Sophia | Poznanski, Andrew K. | Dobyns, William B. | Craig, David W. | Hoo, Joe J. | Sarco, Dean | Bassuk, Alexander G.

Article Type: Research Article

Abstract: Chromosomal microdeletion syndromes are frequently associated with neurological disease including epilepsy and behavioral abnormalities. Yet, for most microdeletions, neurological phenotypes are variable and the exact molecular cause of neurological disease is not yet understood. Terminal deletions in the long arm of chromosome 2 (2q37.3) are among the most common microdeletion syndromes diagnosed, and have been associated with epilepsy, autistic-like features, short stature, obesity, and brachydactyly type E (short 4th and 5th metacarpals …and metatarsals). However, neither epilepsy nor any of the other clinical features are invariant in 2q37.3 deletion. To elucidate the genetic mechanisms underlying this clinical variability we report what is, to our knowledge, the first description of inherited 2q37.3 deletion (without other complex chromosomal rearrangements) in three family members and present two sporadic cases and accompanying chromosomal microarray data. The clinical features of the three familial and two sporadic cases combined with the chromosomal microarray results suggest that all of the clinical features seen in 2q37.3 deletion may be variably expressed. Show more

Keywords: 2q37.3, microarray, microdeletion, epilepsy, autism, brachydactyly

DOI: 10.3233/JPN-2009-0312

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 279-283, 2009

Authors: Olischar, Monika | Theda, Christiane | Lavery, Shelly | Coleman, Lee | Hunt, Rod W.

Article Type: Research Article

Abstract: Amplitude-integrated electroencephalography (aEEG) findings in hypoxic-ischemic encephalopathy characterized by secondary energy failure have been described in detail. In contrast, reports of use of aEEG in patients with encephalopathy due to primary energy failure as seen in inherited metabolic disorders are sparse. We report two cases of lethal mitochondrial encephalopathy due to mitochondrial respiratory chain complex I deficiency. We present clinical course, laboratory evaluations, aEEG, conventional electroencephalography, magnetic resonance imaging and magnetic resonance …spectroscopy findings of two cases identified with mitochondrial encephalopathy between 2002 and 2007. Both infants were born at term. Both presented with intractable seizures and mild hypotonia within the first days of life, in the absence of any evidence suggestive of hypoxic-ischemic encephalopathy. Both cases were treated with multiple anticonvulsants and in neither case were seizures fully controlled. Magnetic resonance imaging in both cases revealed a structurally normal brain and case one showed subtle diffuse deep white matter signal abnormality. Magnetic resonance spectroscopy revealed no elevation of lactate. In both cases, aEEG tracings were markedly abnormal, confirmed by electroencephalography. Case one showed status epilepticus on an abnormally high amplitude background and case two presented with a mainly discontinuous background pattern with intermittent burst-suppression pattern activity. Complex I activity in skeletal muscle homogenate was abnormally low in both patients. The use of aEEG as a valuable assessment and monitoring tool in patients with metabolic encephalopathy should be further promoted. Show more

Keywords: Amplitude-integrated EEG, mitochondrial encephalopathy, neonatal seizures

DOI: 10.3233/JPN-2009-0302

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 285-292, 2009

Authors: Cavanna, Andrea E. | Cavanna, Stefano | Bertero, Luca | Monaco, Francesco | Critchley, Hugo D.

Article Type: Research Article

Abstract: Self injurious behavior, i.e. the deliberate, non-accidental, repetitive infliction of self harm, has been reported in a wide range of neuropsychiatric conditions. Clinical and epidemiological studies have shown that self-injurious behavior can occur in up to one third of patients with Gilles de la Tourette syndrome, a neurodevelopmental disorder, characterized by the presence of multiple motor tics and at least one vocal/phonic tic. This paper describes the case of a patient diagnosed with Gilles de la …Tourette syndrome who presented with severe multiple self injurious behaviors since early childhood. On physical examination, we documented a few self-injurious behavior signs including scars in the forehead resulting from repetitive head-banging and bald patches on the scalp due to trichotillomania. Characteristically, self-injurious behaviors were distressing and resistant to treatments (both pharmacotherapy and cognitive behavioral therapy), and were associated with comorbid obsessive-compulsive disorder. This case illustrates the complex nature and difficult management of severe self-injurious behavior in the context of Gilles de la Tourette syndrome and obsessive-compulsive disorder. Show more

Keywords: Gilles de la tourette syndrome, self-injurious behavior, obsessive-compulsive disorder, self-mutilation

DOI: 10.3233/JPN-2009-0304

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 293-296, 2009

Authors: Bernhard, Matthias K. | Hugle, Boris | Merkenschlager, Andreas

Article Type: Research Article

Abstract: The established standard of pharmacotherapy of the attention deficit hyperactivity disorder is methylphenidate, a drug with very few side effects. A 4-year-old boy with T cell acute lymphoblastic leukemia, and severe damage to the white matter induced by chemo- and radiotherapy was treated with methylphenidate in increasing doses due to marked attention deficit hyperactivity disorder. Liver enzymes, i.e. aspartate aminotransferase, alanine aminotransferase and gamma glutamyltranspeptidase, were slightly elevated prior to therapy. Three …weeks into methylphenidate therapy, the patient suffered from recurrent vomiting. Liver enzymes were elevated with alanine aminotransferase at 1260 U/L, aspartate aminotransferase at 499 U/L and gamma glutamyltranspeptidase 284 U/L. Creatine kinase was elevated at 405 U/L, while bilirubin and renal function parameters were within normal levels. Following discontinuation of therapy, liver enzymes returned almost to normal levels within a week. Hepatotoxic reactions to methylphenidate are extremely rare. As methylphenidate inhibits the liver cytochrome P450 system, synergistic toxic effects are possible in theory. An elevated creatine kinase level would be possible within the framework of autoimmune reactions. Patients with increased risk (i.e. age below 6 years, hepatic stress due to prior pharmacotherapy) should be treated with methylphenidate, only under close clinical and laboratory monitoring. Show more

Keywords: Methylphenidate, creatine kinase, liver enzymes, hepatotoxicity

DOI: 10.3233/JPN-2009-0303

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 297-299, 2009

Authors: Sankhyan, Naveen | Kalra, Veena | Aksentijevich, Ivona | Kabra, Madhulika | Gulati, Sheffali | Sharma, Suvasini

Article Type: Research Article

Abstract: The authors report a sporadic case of a rare periodic fever, the neonatal onset multisystem inflammatory disease. A 7-year-old boy presented with symptoms since the age of two. He had recurrent episodes of fever, rash and meningitis, progressive hearing loss, arthralgia and failure of growth. His examination revealed mild dysmorphic features, clubbing, wasting, stunting, and erythema nodosum like rash on the limbs, healed posterior uveitis and chorioretinitis, mild spasticity in lower limbs, deafness and borderline …intelligence quotient. Investigations revealed dextrocardia, situs inversus, absence of autoimmune markers, and elevated erythrocyte sedimentation rate. Neuroimaging showed gliotic areas in bilateral cerebellar hemispheres. Genetic screen for mutations in all nine exons of NLRP3 was negative. The clinical features, variability in severity and possible genetic mechanisms are discussed. Show more

Keywords: CINCA, auto inflammatory, rheumatic, periodic fever, arthropathy

DOI: 10.3233/JPN-2009-0297

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 301-305, 2009

Authors: Rohilla, Seema | Rawal, Manoj | Yadav, Rohtas K. | Ahuja, Amit | Nanda, Sanjiv | Dhaulakhandi, Dhara B.

Article Type: Research Article

Abstract: Neurocysticercosis (NCC) is known to have varied presentations ranging from simple psychosis to stroke and death. While NCC may affect any part of brain or spinal cord, endocrinopathies due to NCC involving hypothalamus and pituitary gland are very rare. A 7-year-old child presented with polyuria and polydipsia for 1 year. After ruling out peripheral diabetes insipidus, a magnetic resonance imaging scan of the brain was done which showed a small cystic lesion in the proximal pituitary …stalk. Similar cystic lesions were also seen in other areas of the brain. Cerebrospinal fluid enzyme linked immunosorbent assay for cysticercosis was positive. Such a case of NCC involving pituitary stalk and presenting as central diabetes insipidus is, to the best of our knowledge, the first report of both the location and clinical presentation of NCC in children. Show more

Keywords: Neurocysticercosis, diabetes insipidus, polyuria, pituitary

DOI: 10.3233/JPN-2009-0295

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 307-310, 2009

Authors: Chambers, Roxanne H. Melbourne | Johnson, Peter B. | Thame, Minerva M.

Article Type: Research Article

Abstract: Two male infants who were both survivors of monochorionic twin pregnancies in which there was intrauterine demise of one twin are described. These infants had features of microcephaly associated with radiologic features of porencephaly, hydranencephaly and microcranium. The diagnosis assigned was severe fetal brain disruption sequence. Both infants had severe developmental delay and one infant died suddenly at age 7 months. A comparison is made with previously reported cases. The diagnosis of fetal brain disruption sequence …should be entertained in infants with severe congenital microcephaly with overlapping sutures associated with scalp rugae and should be anticipated in twin pregnancies in which there has been demise of one co-twin during the second trimester. Show more

Keywords: Fetal brain disruption, twin pregnancy, microcephaly, microhydranencephaly

DOI: 10.3233/JPN-2009-0299

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 311-314, 2009

Authors: Basu, Biswanath

Article Type: Research Article

Abstract: A 4-year-old child with history of accidental ingestion of 13 tablets isoniazid-rifampicin (89 mg/kg isoniazid), 1 hr earlier, presented with generalized tonic-clonic seizure, which was refractory to diazepam, phenytoin and phenobarbitone. Given in gram per gram amounts of the isoniazid ingested, intravenous pyridoxine (vitamin B_{6} ) ultimately terminated the seizure activity. Isoniazid inhibits brain pyridoxal-5-phosphate, the active form of pyridoxine, resulting in decrease in the brain level of gamma aminobutyric acid …causing decrease in seizure threshold. Isoniazid toxicity should be suspected in any patient who presents with refractory seizure and physicians must be prepared to counteract the potentially fatal toxic effects with pyridoxine. Show more

Keywords: Isoniazid, status epilepticus, pyridoxine

DOI: 10.3233/JPN-2009-0305

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 315-316, 2009

Authors: Rennert, Janine | Doelken, Regina | Doelken, Marc | Doerfler, Arnd

Article Type: Research Article

Abstract: Leukoencephalopathy and cerebral atrophy occur as prominent radiological features in early onset neurodegenerative disorders of inherited metabolic origin. Menkes disease is a rare X-linked recessive disorder, characterized by neurodevelopmental delay in early infancy, failure to thrive and seizures. While diagnosis of Menkes disease is usually based upon clinical, genetic and laboratory findings, typical radiolological features such as extensive lesions in the white and grey matter are present. Alterations found in more advanced …stages are generalized atrophy and vascular changes. We present the case of a 10-month-old boy with Menkes disease, showing extensive abnormal signal of cerebral white matter, followed by generalized cerebral atrophy in magnetic resonance imaging. Show more

Keywords: Menkes disease, MRI, neurodegenerative disorder, leukoencephalopahy

DOI: 10.3233/JPN-2009-0296

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 317-320, 2009

Authors: Kumar, Raj | Pande, Shilpi | Srivastava, Arun K. | Mahapatra, Ashok K.

Article Type: Research Article

Abstract: Cervical myelocystocele is a rare form of occult spinal dysraphism in which the central canal of spinal cord and subarachnoid space are herniated through a posterior spina bifida. It is commonly associated with Chiari II malformation, but in the present case it was associated with the Chiari I malformation, the child has no neurological deficit at presentation. The entity of cervical myelocystocele rare but it must be kept in differential diagnosis of cervical spinal dysraphism. The …mechanism of dilatation of central canal into cervical meningocele is also different in relation to terminal myelocystocele of lumbosacral region, which is discussed in this report. Show more

Keywords: Cervical myelocystocele, myelocystocele, spinal dysraphism

DOI: 10.3233/JPN-2009-0294

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 321-324, 2009

Authors: Kalane, Umesh | Kulkarni, Shilpa

Article Type: Research Article

Abstract: PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects and eye abnormalities) is a rare congenital anomaly with a broad spectrum of clinical manifestations. We describe an infant with PHACE syndrome with its classical features. Review of the literature documents a highly significant association between ipsilateral hemangiomas and cerebrovascular and aortic arch anomalies. It is important to differentiate between Sturge-Weber syndrome and PHACE syndrome.

Keywords: PHACE syndrome, facial hemangiomas, arterial anomalies

DOI: 10.3233/JPN-2009-0298

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 325-327, 2009

Authors: Mandal, Subinay | Bid, Debashis

Article Type: Research Article

Abstract: Hereditary spastic paraparesis/familial spastic paraparesis is a group of clinically and genetically diverse disorders characterized by progressive usually severe, lower extremity weakness and spasticity. Vitiligo with spastic paraparesis, a disorder of hereditary spastic paraparesis group, is a rare neurocutaneous syndrome. Herein, we report a case of vitiligo with spastic paraparesis with a family history of similar type of disease in another sib, in a family of non-consanguineous marriage.

Keywords: Vitiligo, hereditary spastic paraparesis, syndrome, heterogeneous

DOI: 10.3233/JPN-2009-0306

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 329-331, 2009

Authors: Arya, Ravindra | Sahu, Jitendra K. | Kabra, Madhulika

Article Type: Research Article

DOI: 10.3233/JPN-2009-0311

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 333-335, 2009