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Child Neurology Open

Julie Voeller, Chrysanthy Ikonomidou, Justin Brucker, Carol Diamond, Sharon Frierdich, Neha Patel
Neurologic dysfunction during acute lymphoblastic leukemia treatment is commonly associated with chemotherapy. Nonchemotherapy contributions should be considered for persistent atypical symptoms. We describe a boy with acute lymphoblastic leukemia who developed recurrent fevers, diarrhea, progressive ataxia, and neuropsychiatric impairment during maintenance chemotherapy. He was found to have cytomegalovirus in his serum and colon, but not in his cerebrospinal fluid. Instead, his cerebrospinal fluid revealed oligoclonal bands not present in the serum, suggesting an autoimmune process...
2018: Child Neurology Open
Eli Saleh, Noémi Dahan-Oliel, Kathleen Montpetit, Thierry Benaroch, Rita Yap, Nadia Barakat, M J Mulcahey
Purpose: This pilot study evaluated the outcomes of tendon Achilles lengthening in 12 children (mean age: 11.2 years) with spastic hemiplegia. Methods: Cerebral Palsy Computer Adaptive Tests, the timed up-and-go, the Gross Motor Function Measure, the Gillette Functional Assessment Questionnaire, and the Pediatric Outcomes Data Collection Instrument were administered at baseline and at 6, 12, and 24 months postsurgery. Results: Significant improvement at the latest follow-up (12-24 months following surgery) was seen in all domains of the Cerebral Palsy Computer Adaptive Test: activity ( P = ...
2018: Child Neurology Open
Débora Medeiros Rios, Mino Correia Rios, Igor Dórea Bandeira, Fernanda Queiros Campbell, Daniel de Carvalho Vaz, Rita Lucena
Introduction: Rehabilitation techniques have been used to facilitate reading acquisition in dyslexia. However, many individuals continue to present academic impairment throughout life. New intervention strategies are necessary to further help this population. Objectives: Assess the impact of transcranial direct current stimulation on reading skills in children and adolescents with dyslexia. Methods: The study was conducted with one-group pretest-posttest...
2018: Child Neurology Open
Guillermo Philipps, Elizabeth D Tate, Michael R Pranzatelli
Paraneoplastic cerebellar degeneration is rare and noteworthy in children. In this 7-year-old, it was documented to have occurred within a year of ataxia presentation. The instigating cancer was stage III adrenal adenocarcinoma, remitted after surgical resection at age 2. When her severe ataxia progressed, neuroinflammation was characterized by high cerebrospinal fluid Purkinje cell cytoplasmic antibody type 1 titers, oligoclonal bands, and neurofilament light chain. The immunotherapy strategy was to replace IV methylprednisolone, which lowered Purkinje cell cytoplasmic antibody type 1 titers without clinical improvement, with induction of adrenocorticotropic hormone/intravenous immunoglobulin/rituximab (ACTH/IVIG/rituximab) combination immunotherapy, ACTH/dexamethasone transition, and intravenous immunoglobulin maintenance...
2018: Child Neurology Open
Miriam Kessi, Jing Peng, Lifen Yang, Haolin Duan, Yulin Tang, Fei Yin
1q43q44 microdeletion syndrome is characterized by intellectual disability/global developmental delay, epilepsy, dysmorphic facies, stereotypic movement, language delay, recurrent infections, dental anomalies, and hand and foot anomalies. Microcephaly and corpus callosum dysplasia are present in some cases depending on gene content. 3q29 microduplication syndrome is characterized by intellectual disability, language delay, microcephaly, and dental anomalies. We report the first case with 4 de novo copy number variations with clinical features which overlap 1q43q44 microdeletion and 3q29 microduplication syndromes...
2018: Child Neurology Open
Amanda V Bakian, Deborah A Bilder, E Kent Korgenski, Joshua L Bonkowsky
Premature birth is associated with increased risk of autism spectrum disorder. Antenatal maternal magnesium administration is known to reduce subsequent risk of cerebral palsy including among premature infants, suggesting a potentially broader neuroprotective role for magnesium. Our objective was to determine whether magnesium could be protective against autism spectrum disorders in premature infants. A cohort of 4855 preterm children was identified, magnesium levels from 24 to 48 hours of life recorded, and subsequent autism spectrum disorder status determined...
2018: Child Neurology Open
Toranj Raimalwalla, Vrajesh Udani, Dimpi Mhatre
Objective: To study the outcome of childhood-onset drug-resistant epilepsy. Methods: Fifty-five patients with drug-resistant epilepsy, meeting inclusion criteria, were identified from the Pediatric Neurology Clinic database with seizure onset less than age 13 years and a minimum follow-up of 5 years. Seizure remission was defined as no more than 1 seizure/year. Kaplan-Meier analysis was used to calculate the annual probability of seizure remission. Chi-square/Kruskal-Wallis tests were used to detect differences in predictors between those with seizure remission, ≥75% improvement and <75% improvement based on caregiver reports...
2018: Child Neurology Open
Kristen Smolinsky, Ivona Sediva
We present a 16-year-old female status post traumatic brain injury from severe motor vehicle crash with prolonged extrication. Initially with a Glasgow Coma Scale of 4 and blood pressure of 80/40, she required emergent intubation. Head computed tomography was notable for skull fracture with hematoma, diffuse axonal injury, and 6-mm midline shift with right uncal herniation. On hospital day 1, she underwent decompressive R hemicraniectomy. She received neuroprotective treatment including a hypocarbic, hypernatremic state with close blood pressure monitoring for appropriate cerebral perfusion...
2018: Child Neurology Open
Paulina Kyriakopoulos, Vanda McNiven, Melissa T Carter, Peter Humphreys, David Dyment, Tadeu A Fantaneanu
No abstract text is available yet for this article.
2018: Child Neurology Open
Hugh J McMillan, Anne-Lise Holahan, Julie Richer
Worster-Drought syndrome is a congenital, pseudobulbar paresis. There is no identified molecular etiology despite familial cases reported. The authors report a boy who was diagnosed with Worster-Drought syndrome due to longstanding drooling, dysphagia, and impaired tongue movement. Magnetic resonance imaging of the brain was unrevealing. At 14 years old, he remains aphonic with normal facial and extraocular movements. Nonsense mutations in the LINS gene, p.Glu366X and p.Lys393X, were found. Results from neuropsychological testing at 14 years old were consistent with a diagnosis of intellectual disability and revealed nonverbal reasoning skills at a 5-year-old level with relative sparing of his receptive vocabulary and visual attention...
2018: Child Neurology Open
Rebecca L Margraf, Jacob Durtschi, Bryan Krock, Tara M Newcomb, Joshua L Bonkowsky, Karl V Voelkerding, Pinar Bayrak-Toydemir, Richard E Lutz, Kathryn J Swoboda
Next-generation sequencing was performed for 2 families with an undiagnosed neurologic disease. Analysis revealed X-linked mutations in the proteolipid protein 1 ( PLP1 ) gene, which is associated with X-linked Pelizaeus-Merzbacher disease and Spastic Paraplegia type 2. In family A, the novel PLP1 missense mutation c.617T>A (p.M206K) was hemizygous in the 2 affected male children and heterozygous in the mother. In family B, the novel de novo PLP1 frameshift mutation c.359_369del (p.G120fs) was hemizygous in the affected male child...
2018: Child Neurology Open
(no author information available yet)
No abstract text is available yet for this article.
2018: Child Neurology Open
Xue Ming, Neil Chen, Carly Ray, Gretchen Brewer, Jeffrey Kornitzer, Robert A Steer
Attention-deficit/hyperactivity disorder (ADHD) is a neurologic disorder characterized by hyperactivity/impulsivity and/or inattentiveness, with genetic and environmental factors contributing to the disorder. With the growing recognition of the microbiome's role in many neurological disorders, the authors propose that it may also be implicated in ADHD. Here, we describe several evolving areas of research to support this hypothesis. First, a unique composition of gut bacteria has been identified and linked to behaviors in ADHD...
2018: Child neurology open
Christina Stark, Ibrahim Duran, Sebahattin Cirak, Stefanie Hamacher, Heike-Katharina Hoyer-Kuhn, Oliver Semler, Eckhard Schoenau
The aim of this study was to determine the effect of a new method of vibration-assisted neuromuscular rehabilitation in patients with spinal muscular atrophy types II and III. In this retrospective observational study, 38 children (mean age: 4.64 ± 1.95 years) were analyzed. The physiotherapy program, Auf die Beine , combines 6 months of home-based side-alternating whole-body vibration with interval blocks of intensive, goal-directed rehabilitation: 13 days at the start and 6 days after 3 months. Assessments were applied at the beginning (M0), after 6 months of home-based training (M6), and after 6 months of follow-up (M12)...
2018: Child Neurology Open
Nahid Khosroshahi, Aliakbar Rahbarimanesh, Farhad Asadi Boroujeni, Zahra Eskandarizadeh, Mojdeh Habibi Zoham
Background: Benign convulsion with mild gastroenteritis is a new clinical entity that occurs in children who are otherwise healthy. Method: This cohort study held among patients with afebrile convulsion and accompanying gastroenteritis in a tertiary children hospital during a 2-year period. Demographic and clinical data were analyzed. Neurodevelopmental milestones were observed during a follow-up period of 12 to 24 months. Results: Twenty-five patients aged 3 to 48 months with female predominance were enrolled...
2018: Child Neurology Open
Amerins Weijenberg, Margreet van Rijn, Petra M C Callenbach, Tom J de Koning, Oebele F Brouwer
Background: Ketogenic diet in children with epilepsy has a considerable impact on daily life and is usually adopted for at least 3 months. Our aim was to evaluate whether the introduction of an all-liquid ketogenic diet in an outpatient setting is feasible, and if an earlier assessment of its efficacy can be achieved. Methods: The authors conducted a prospective, observational study in a consecutive group of children with refractory epilepsy aged 2 to 14 years indicated for ketogenic diet...
2018: Child Neurology Open
Muneera A Alabdulqader, Sumayah Al Hajjaj
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. Objectives: We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. Method: Case report. Results: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia...
2018: Child Neurology Open
Annie Ting Gee Chiu, Sophelia Hoi Shan Chan, Shun Ping Wu, Shun Hin Ting, Brian Hon Yin Chung, Angel On Kei Chan, Virginia Chun Nei Wong
The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1. Sanger sequencing confirmed a compound heterozygous mutation in the Immunoglobulin Mu Binding Protein 2 (IGHMBP2) gene, with a known mutation c...
2018: Child Neurology Open
Lalit R Bansal
An 11-month-old male presented with acute gastroenteritis, seizures, and altered mental status. Laboratory workup revealed serum sodium of 177 mmol/L. Magnetic resonance imaging of the brain showed reduced diffusion in the supratentorial white matter, T2 hyperintensities in the left central pons and midbrain, subacute stroke in the right occipital lobe, and bilateral cerebellar hemorrhagic infarcts. The child was presumed to have hypernatremia-induced central pontine and extrapontine myelinolysis. He received 5 days of high-dose methylprednisolone for persistent encephalopathy and spastic quadriparesis with rapid recovery of his cognitive function and neurological examination...
2018: Child Neurology Open
Haolin Duan, Jing Peng, Miriam Kessi, Fei Yin
Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare type of early-onset epileptic encephalopathy that is characterized by refractory migratory multifocal seizures that migrate between hemispheres. Its etiology is not well known although it is postulated to occur due to channelopathy. The authors report the first case of EIMFS due to a de novo heterozygous mutation in exon 4(c.881C>T missense mutation, p.Ala294Val, NM_172107.2) in KCNQ2 gene which later evolved into infantile spasms. However, it is the second case of EIMFS with KCNQ2 mutation...
2018: Child Neurology Open
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