Journal of Pediatric Neurology - Volume 8, issue 4

Authors: Ullrich, Nicole J. | Rey-Casserly, Celiane | Irons, Mallory L. | Allison, Caroline | Irons, Mira B.

Article Type: Research Article

Abstract: Segmental neurofibromatosis type 1 (NF1) describes patients with manifestations of NF1 that are restricted to one region of the body; little has been documented in the way of significant medical or developmental problems in patients with segmental NF1 that are frequently noted in generalized NF1. We performed a retrospective review of patients with segmental NF1 to determine the prevalence of academic and cognitive difficulties in children with segmental NF1 compared to children with generalized NF1. A …total of 62 patients were identified with segmental NF1. Almost all patients had pigmentary changes with caféau lait macules and skin-fold freckling that were limited to one region of the body. Nearly half of children with segmental NF1 had individualized educational plans and received supportive academic services (47%, which was close to the frequency of 57% in generalized NF1). This study provides preliminary evidence that children with segmental NF1 may be at increased risk for academic and cognitive difficulties. We recommend close follow-up and developmental screening of all children with segmental NF1, as is done for children with generalized NF1. Show more

Keywords: Segmental, mosaic, neurofibromatosis, cognitive, learning disabilities

DOI: 10.3233/JPN-2010-0411

Citation: Journal of Pediatric Neurology, vol. 8, no. 4, pp. 343-348, 2010

Authors: Misra, Amar Kumar | Kumar, Sanjay | Biswas, Arup | Das, Shyamal Kumar

Article Type: Research Article

Abstract: Study on use of botulinum toxin A (BTX-A) in subjects with spastic cerebral palsy is rare in Indian literature. So, we planned to observe the role of BTX-A in subjects with spastic cerebral palsy unresponsive to conventional therapy. This open label study was conducted with the approval of Institutional Ethics Committee and parents. A total of 63 cases (age range 1 to 19 years; mean 6.07 years) received the toxin (dose range 50–200 units) after proper …assessment based on modified Ashworth scale, visual analogue scale, passive range of motion with goniometer, physician rating scale and assessment of global functional status. A total of 13 cases were lost in follow up. Out of 50 cases who received the injection, tone and pain reduction was significant in different subgroup of patients. Improvement of functional status was noticed in 10% of cases. Thus, BTX-A is effective in reduction of tone and pain, but significant functional improvement was noted in a limited number of cases. Show more

Keywords: Cerebral palsy, botulinum toxin, spasticity

DOI: 10.3233/JPN-2010-0410

Citation: Journal of Pediatric Neurology, vol. 8, no. 4, pp. 349-357, 2010

Authors: Girija, Ananthanarayanan | RamachandranNair, Rajesh | Rafeequ, Mohemmad | Manoj, Parameswaran

Article Type: Research Article

Abstract: The chief treatment options for acute disseminated encephalomyelitis (ADEM) include methylprednisolone (MP), plasma exchange (PE), intravenous immunoglobulin (IVIG). However, there is no evidence-based recommendations for management of ADEM. To identify the prognosis in ADEM after use of different modalities of treatment, a 3-year prospective study of cases presenting with neurological features with a temporal relation to an infection or vaccination or with a presumed etiology as demyelination was undertaken. Investigations to identify …the causative agent, magnetic resonance imaging of brain and spinal cord, cerebrospinal fluid studies, electrophysiological studies, blood tests to exclude metabolic and collagen vascular disorders were done. A standard protocol of steroids, failing which (Modified Rankin scale score of four or 5 at end of 3 weeks) IVIG or PE was given. One patient underwent hemicraniectomy. Cases were followed up for 1 year. Telephonic interview was done at 3rd and 5th year. Of the 32 cases (< 18 years), 84% had early complete recovery with MP. One who was on dexamethasone recovered by 1 year. With subsequent PE or IVIG, four cases (13%) had complete recovery. Relapses were restricted to a maximum of three between 6 and 18 months. Prognosis in ADEM can be improved remarkably by early diagnosis and treatment with intravenous MP followed at times by plasmapheresis or IVIG. Hemicraniectomy may be life saving. Show more

Keywords: Plasma exchange, methylprednisolone, immunoglobulin, acute disseminated encephalomyelitis, hemicraniectomy

DOI: 10.3233/JPN-2010-0412

Citation: Journal of Pediatric Neurology, vol. 8, no. 4, pp. 359-365, 2010

Authors: Bandaru, V.C.S. Srinivasarao | Boddu, Demudu Babu | Singh, Vineeta | Akhila, Boddu | Laxmi, Vemu | Neeraja, Mamedi | Kumar, Bana Ashok | Reddy, Gunnamreddy Ramana | Jyotsna, Yarlagadda | Kaul, Subhash

Article Type: Research Article

Abstract: Several studies have shown that Chlamydia pneumoniae accelerates atherothrombosis by cytokine-mediated process with increased risk of cerebral ischemia in adults. Such a relationship has not been established in children. We sought to study the role of C. pneumoniae infection in children under the age of 18~years presenting with first ever-ischemic stroke. This study was carried out at a tertiary care hospital, between January 2006 and December 2008. Using a prospective registry, we enrolled all consecutive …childhood stroke patients presenting within 72 h of stroke onset. All patients underwent neuroimaging tests as a part of their stroke work up. In addition to routine blood investigations, hypercoagulable panel and fasting lipid profile were estimated for all participants. We measured C. pneumoniae IgG and IgA antibodies, by microimmunofluorescence technique, for all participants. A total of 42 children under the age of 18 years who presented with acute ischemic stroke were studied. The mean age of presentation was 15.2 years and males outnumbered females by 5:2. Stroke risk factors were identified in 33 of 42 (80%) cases. C. pneumoniae seropositivity (IgG) was found in 14 of the 42 stroke patients. After adjustment in C. pneumoniae seropositive strokes, abnormal intima media thickness (odds ratio [OR]: 7.0; 95% confidence interval [CI]: 1.2–37.9), elevated total cholesterol (OR: 9.3; 95% CI: 1.6–53.2) and low-density lipoprotein cholesterol (OR: 27.0; 95% CI: 2.5–291.1) were significantly associated with ischemic stroke in children. C. pneumoniae infection is associated with atherogenic lipid profile in children presenting with acute ischemic stroke. Show more

Keywords: Pediatric stroke, C. pneumoniae, intima media thickness, low-density lipoprotein cholesterol, total cholesterol

DOI: 10.3233/JPN-2010-0413

Citation: Journal of Pediatric Neurology, vol. 8, no. 4, pp. 367-373, 2010

Authors: Castro-Gago, Manuel | Gómez-Lado, Carmen | Novo-Rodríguez, María Inés | Eirís-Puñal, Jesús | Rodríguez-García, Javier | Rodríguez-Segade, Santiago

Article Type: Research Article

Abstract: There is evidence that muscle forms part of endocrine networks, secreting/or responding to circulating agents such as leptin and interleukin-6 as well as the classical hormone insulin. To gain further insight into the possible role of these hormones and cytokines in muscle degenerative diseases, we investigate their concentrations in sera from patients with muscular dystrophy and mitochondrial encephalomyopathy. In 13 patients with muscular dystrophy, in eight patients with mitochondrial encephalomyopathy, and in 8 …age-matched healthy control subjects, the concentrations of leptin, insulin, insulin-like growth factor I, insulin-like growth factor binding protein-3 (IGFBP-3), interleukin 6 and interleukin 8 in sera were determined. The only statistically significant difference between patient groups and controls was lower IGFBP-3 levels in patients with mitochondrial encephalomyopathy. Save the IGFBP-3, the other hormones and cytokines measured do not appear to be involved in the pathophysiology of these myopathies, at least in an endocrine, as opposed to a para-or autocrine, role. Show more

Keywords: Insulin, insulin-like growth factor I, IGF binding protein-3, interleukins, leptin, mitochondrial encephalomyopathy, muscular dystrophy

DOI: 10.3233/JPN-2010-0414

Citation: Journal of Pediatric Neurology, vol. 8, no. 4, pp. 375-379, 2010

Authors: Ferber, Sari Goldstein | Makhoul, Imad R.

Article Type: Research Article

Abstract: Melatonin production is known to be delayed in preterm infants up to 6~months of age. We aimed to test the profile of melatonin production in these infants at 9–12 months of age. Twenty-three term and 23 preterm infants (gestational age: 29–34 weeks) were randomly assigned. We tested nocturnal urinary melatonin excretion, within a repeated measures design, both at 9 and 12 months of age. Nocturnal urine was extracted from diapers and urinary melatonin derivate (6-sulphatoxymelatonin) excretion …was analyzed by enzyme-linked immunosorbent assay assays. Preterm infants had significantly lower urinary melatonin excretion both at 9 and 12 months of age as compared to term infants. At 9 months: 8502 ± 6215 vs. 12,735 ± 10,284 ng, and at 12 months: 8623 ± 5095 vs. 14,985 ± 10,890 ng respectively, (F [1,42]=4.276), (P< 0.05). At 9 and 12 months of age, the delayed maturation of melatonin production is still persistent in preterm infants as compared to term mates. The impact of persistent decreased melatonin production in preterm infants up to 12~months of age on their psychomotor and lung development is to be elucidated. Show more

Keywords: 6-sulphatoxymelatonin, developmental delay, melatonin treatment, oxygenation, preterm infants

DOI: 10.3233/JPN-2010-0418

Citation: Journal of Pediatric Neurology, vol. 8, no. 4, pp. 381-384, 2010

Authors: Lagunju, Ikeoluwa A. | Okereke, James | Adebayo, Abosede | Eni-Olorunda, Tolulope

Article Type: Research Article

Abstract: Although cerebral palsy (CP) is primarily a motor disorder, a significant proportion of individuals with CP have associated neurocognitive and sensory impairments that adversely affect the prognosis of the disease. This study was undertaken to determine the pattern and burden of associated neurocognitive and sensory deficits in Nigerian children with CP. All consecutive cases of CP seen at the Pediatric Neurology clinic of the University College Hospital, Ibadan, Nigeria over a period of 3 years were …evaluated for severity of motor impairment and any accompanying neurocognitive and sensory deficits. A total of 303 children, 187 males and 116 females were studied. Severe perinatal asphyxia (42.2%), bilirubin encephalopathy (23.4%) and intracranial infections (15.8%) were the leading risk factors for CP. Associated neurocognitive/sensory impairments were present in 269 (88.8%) of the cases. The most frequent deficits, which are associated with day to day functioning, were epilepsy (40.3%), hearing impairment (33.0%), visual impairment (32.0%), growth impairment (29.0%) and speech disorders (24.8%). Cognitive impairment was present in 30 (83.3%) of the 36 children aged 6 years and above. Deficits were multiple in 51.5% of the cases. The study showed a statistically increased risk of multiple neurocognitive and sensory deficits with presence of spastic quadriparesis (P< 0.001, odds ratio 2.553, 95% confidence interval 1.55–4.25) and microcephaly (P< 0.001, odds ratio 3.83, 95% confidence interval 2.38–6.18). Neurocognitive and sensory impairments are common in Nigerian children with CP. These can further compromise the quality of life and increase the burden of care on affected children and their families. Show more

Keywords: Neurocognitive, sensory, impairment, cerebral palsy

DOI: 10.3233/JPN-2010-0419

Citation: Journal of Pediatric Neurology, vol. 8, no. 4, pp. 385-390, 2010

Authors: Ruiter, Mariken | Pfundt, Rolph | Koolen, David A. | Sistermans, Erik A. | Nillesen, Willy M. | van Ravenswaaij, Conny M. | de Vries, Bert B.A. | Willemsen, Michèl A.A.P.

Article Type: Research Article

Abstract: The infantile epileptic encephalopathies are a heterogeneous group of disorders where in about 30% of cases the cause remains unknown. Chromosomal aberrations, identified by karyotype analysis, constitute one of the major causes for these disorders. The new molecular cytogenetic techniques such as fluorescence in situ hybridization, multiplex ligation-dependent probe amplification (MLPA) and single nucleotide polymorphism array analyses may allow us to discover additional submicroscopic chromosomal rearrangements in this group of patients. Herein, …we describe a girl with infantile epileptic encephalopathy. Fluorescence in situ hybridization, MLPA and single nucleotide polymorphism array analyses revealed a microdeletion and microduplication at the 1p36 region. Because of that, we further screened a cohort of 38 patients with infantile epileptic encephalopathy by using MLPA analysis to exclude the presence of subtelomeric microdeletions or microduplications. One patient was shown to harbor a microduplication at 11q25, which is however most likely a benign copy number variant derived from the healthy mother. No disease-causing dose changes were identified, indicating that unbalanced rearrangements at the subtelomeric regions may not be a common cause for infantile epileptic encephalopathy. However, when the patient has infantile epileptic encephalopathy and other features such as dysmorphic facies or major congenital anomalies, molecular cytogenetic analysis is warranted. Show more

Keywords: Infantile epilepsy, microdeletion, microduplication, 1p36, multiplex ligation-dependent probe amplification

DOI: 10.3233/JPN-2010-0415

Citation: Journal of Pediatric Neurology, vol. 8, no. 4, pp. 391-396, 2010

Authors: Parke, Simon C.

Article Type: Research Article

Abstract: Sneezing is a very common symptom. Intractable sneezing is usually due to a nasal problem or of a psychogenic nature. We present a case of a 7-year-old boy who presented with intractable morning sneezing as the main presenting symptom of a posterior fossa tumor.

Keywords: Sneezing, posterior fossa tumor, pilocytic astrocytoma, neuroanatomy

DOI: 10.3233/JPN-2010-0416

Citation: Journal of Pediatric Neurology, vol. 8, no. 4, pp. 397-398, 2010

Authors: Barzegar, Mohammad | Toopchizadeh, Vahideh | Shiva, Shadi

Article Type: Research Article

Abstract: Guillain-Barré syndrome (GBS) is generally considered to be monophasic, but it may recur after interval of many years in 2–6% of patients. Patients with GBS usually experience the same pattern in a recurrence, despite the severity of the symptoms and the nature of the preceding infections varied. However, we present a patient who developed first episode of GBS as acute generalized weakness and areflexia in the four limbs and pharyngeal-cervical-brachial variant of GBS on second episode.

Keywords: Guillain-Barré syndrome, recurrence, pharyngeal-cervical-brachial variant

DOI: 10.3233/JPN-2010-0417

Citation: Journal of Pediatric Neurology, vol. 8, no. 4, pp. 399-401, 2010