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Child Neurology Open

Tarishi Nemani, Anaita Udwadia-Hegde, Purva Keni Karnavat, Ritu Kashikar, Shridhar Epari
CLIPPERS (chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids) is a recently described, rare neuroinflammatory disorder diagnosed by clinical symptoms involving the brain stem with a distinct pattern on neuroimaging and a perivascular T-lymphocyte infiltrate on brain biopsy. It is a condition usually described in adults in the fourth to fifth decade. We report a case of 13-year-old Indian boy who presented with recurrent episodes of ataxia and diplopia with onset at 7 years of age...
2019: Child Neurology Open
Aneal Khan, Jennifer Bennett, Morris H Scantlebury, Xing-Chang Wei, Marina Kerr
Aminoacyl transfer RNA (tRNA) synthetase complex-interacting multifunctional protein I is a noncatalytic component of tRNA multi-synthetase complexes. Although important in joining tRNAs to their cognate amino acids, AIMP1 has several other functions including axonal growth, cytokine activity, and interactions with N -acetylaspartic acid in ribosomal tRNA synthetase complexes. Further, N -acetylaspartic acid donates an aspartate during myelination and is therefore important to axonal integrity. Mutations in AIMP1 can disrupt these functions, as demonstrated in this clinical case study of 2 monozygotic twins, who display congenital opisthotonus, microcephaly, severe developmental delay, and seizures...
2019: Child Neurology Open
Rayan Alfallaj, Majid Alfadhel
Glycine transporter 1 encephalopathy (OMIM# 617301; glycine encephalopathy with normal serum glycine, GLYT1 transporter dysfunction, and nonketotic hyperglycinemia) is caused by mutations in the SLC6A9 gene. To date, 6 cases have been reported in the literature, characterized as having neonatal onset, respiratory failure that required mechanical ventilation, severe hypotonia at birth that progressed to limb hypertonicity, and startle-like responses provoked by sudden loud noises and tactile stimulation. Additional characteristics included dysmorphic features, musculoskeletal abnormalities, and abnormal antenatal findings...
2019: Child Neurology Open
Carlos A Pérez, Stephanie Garcia-Tarodo, Regina Troxell
Myelin oligodendrocyte glycoprotein is expressed in the central nervous system on the surface of oligodendrocytes and is associated with a broad range of adult and pediatric demyelinating phenotypes. The entire spectrum of clinical and radiologic features of myelin oligodendrocyte glycoprotein antibody spectrum disorder remains to be fully elucidated. We describe the case of a 9-year-old boy with immune-mediated myelitis undetectable by conventional magnetic resonance imaging in the context of relapsing anti-myelin oligodendrocyte glycoprotein spectrum disorder...
2019: Child Neurology Open
Edward B Clark, Russell J Butterfield, Francis M Filloux, Joshua L Bonkowsky
Innovative therapeutics are transforming care of children with previously untreatable neurological disorders. However, there are challenges in the use of new therapies: the medicine may not be effective in all patients, administration may not be tolerated, and matching therapy choice to patient is complex. Finally, costs are high, which imposes financial burdens on insurance companies, families, and the health-care system. Our objective was to address challenges for clinical implementation of the new therapeutics...
2019: Child Neurology Open
Roberta Milone, Riccardo Masson, Caterina Di Cosmo, Massimo Tonacchera, Veronica Bertini, Andrea Guzzetta, Roberta Battini
NKX2-1 mutations have been usually associated with a non-progressive neurological disease. Recent reports revealed a vast variability regarding its clinical expressivity. Aim of this work was widening the Benign Hereditary Chorea neurological, cognitive and behavioral phenotype through the description of a child and her family pedigree. Molecular analysis focused on NKX2-1 gene revealed a novel frameshift mutation in the three-generation members described. Cognitive scales detected a relevant developmental delay, and the clinical observation and Autism Diagnostic Observation Schedule -2 administration allowed the diagnosis of autism spectrum disorder in the proband...
2019: Child Neurology Open
Keun Soo Lee, Bo Lyun Lee, Young Jin Heo
Acute encephalopathy with biphasic seizures and late reduced diffusion is a subtype of acute encephalopathy described in a cohort of Japanese children. Few cases have been reported in countries other than Japan. It is characterized clinically by biphasic seizures and late reduced subcortical diffusion on magnetic resonance imaging (MRI). We report the case of a 3-year-old Korean girl with acute encephalopathy with biphasic seizures and late reduced diffusion who presented with status epilepticus associated with fever and pneumonia...
2019: Child Neurology Open
Laura Rosas, Kavya Rao, Christine McGough, Ashley Becker
The authors describe a 12-year-old girl with an atypical presentation of Bartonella encephalitis. She presented with fever and altered mental status and developed flaccid paralysis of her left upper extremity a day later. An electroencephalogram showed slowing over her right hemisphere. She had mild leukocytosis and bandemia, but her imaging and cerebrospinal studies were unrevealing. After five days, her symptoms resolved and she was discharged home on doxycycline due to suspicion for Bartonella encephalitis...
2019: 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
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No abstract text is available yet for this article.
2018: Child Neurology Open
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