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Child Neurology Open

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https://www.readbyqxmd.com/read/30202771/a-retrospective-analysis-of-the-long-term-outcome-of-drug-resistant-epilepsy-in-children-treated-in-urban-india
#1
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
https://www.readbyqxmd.com/read/30182033/a-case-of-delayed-onset-posthypoxic-leukoencephalopathy-in-a-pediatric-patient
#2
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
https://www.readbyqxmd.com/read/30151416/atypical-rett-syndrome-and-intractable-epilepsy-with-novel-grin2b-mutation
#3
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
https://www.readbyqxmd.com/read/30090841/worster-drought-syndrome-associated-with-lins-mutations
#4
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
https://www.readbyqxmd.com/read/30046645/novel-plp1-mutations-identified-with-next-generation-sequencing-expand-the-spectrum-of-plp1-associated-leukodystrophy-clinical-phenotypes
#5
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
https://www.readbyqxmd.com/read/30038932/2017-reviewer-acknowledgment
#6
(no author information available yet)
No abstract text is available yet for this article.
2018: Child Neurology Open
https://www.readbyqxmd.com/read/30023407/a-gut-feeling-a-hypothesis-of-the-role-of-the-microbiome-in-attention-deficit-hyperactivity-disorders
#7
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
https://www.readbyqxmd.com/read/29977975/vibration-assisted-home-training-program-for-children-with-spinal-muscular-atrophy
#8
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
https://www.readbyqxmd.com/read/29881767/afebrile-benign-convulsion-associated-with-mild-gastroenteritis-a-cohort-study-in-a-tertiary-children-hospital
#9
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
https://www.readbyqxmd.com/read/29872664/ketogenic-diet-in-refractory-childhood-epilepsy-starting-with-a-liquid-formulation-in-an-outpatient-setting
#10
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
https://www.readbyqxmd.com/read/29770345/biotin-thiamine-responsive-basal-ganglia-disease-case-report-and-follow-up-of-a-patient-with-poor-compliance
#11
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
https://www.readbyqxmd.com/read/29761130/spinal-muscular-atrophy-with-respiratory-distress-type-1-a-child-with-atypical-presentation
#12
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
https://www.readbyqxmd.com/read/29687030/therapeutic-effect-of-steroids-in-osmotic-demyelination-of-infancy
#13
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
https://www.readbyqxmd.com/read/29687029/de-novo-kcnq2-mutation-in-one-case-of-epilepsy-of-infancy-with-migrating-focal-seizures-that-evolved-to-infantile-spasms
#14
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
https://www.readbyqxmd.com/read/29662916/intracranial-hemorrhage-and-autoimmune-thrombocytopenia-in-a-neonate-a-rare-unpredictable-event
#15
Andrea Becocci, Cristina Felice-Civitillo, Méryle Laurent, Françoise Boehlen, Roberta De Luca, Joel Fluss
Neonatal thrombocytopenia is a rare complication of maternal autoimmune thrombocytopenia, and no maternal predictors of its gravity and potential complications have been identified. Neonatal cerebral hemorrhage, a feared event in the setting of autoimmune thrombocytopenia, is fortunately uncommon, but it can occur in utero or in the perinatal period, with potentially serious consequences. The authors report the case of a boy born to a mother affected by autoimmune thrombocytopenia, who presented with severe thrombocytopenia at birth and developed intracranial hemorrhage despite mild maternal thrombocytopenia at delivery and a prompt preventive treatment of the newborn...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29560383/use-of-cyclophosphamide-in-a-child-with-fulminant-acute-disseminated-encephalomyelitis
#16
Hana Ayed, Mohammed W Chaudhary, Raidah AlBaradie, Ali Mir
Acute disseminated encephalomyelitis is an immune-mediated inflammatory demyelinating disorder of the central nervous system. The first-line treatment is usually high-dose intravenous methylprednisolone. Intravenous immunoglobulin and plasmapheresis have also shown to be beneficial. Immunosuppressive agents like cyclophosphamide have been used in adults with fulminant acute disseminated encephalomyelitis. We report a case of a 3-year-old boy with fulminant acute disseminated encephalomyelitis. Minimal improvement was seen with high-dose intravenous methylprednisolone, intravenous immunoglobulin, and plasmapheresis...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29372174/prune-syndrome-is-a-new-neurodevelopmental-disorder-report-and-review
#17
Majid Alfadhel, Marwan Nashabat, Khalid Hundallah, Amal Al Hashem, Ahmed Alrumayyan, Brahim Tabarki
PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in PRUNE1 on chromosome 1q21. Here, We report on 12-month-old and 30-month-old girls from 2 unrelated Saudi families with typical presentations of PRUNE syndrome. Both patients had severe developmental delay, progressive microcephaly, and dysmorphic features. Brain magnetic resonance imaging showed slight thinning in the corpus callosum, mild frontal brain atrophy, and delayed myelination in one of the patients...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29372173/acute-transverse-myelitis-caused-by-echovirus-11-in-a-pediatric-patient-case-report-and-review-of-the-current-literature
#18
Heidi L Moline, Peter I Karachunski, Anna Strain, Jayne Griffith, Cynthia Kenyon, Mark R Schleiss
A 12-year-old boy presented with acute flaccid weakness of the right upper extremity and was found to have acute flaccid myelitis with transverse myelitis involving the cervical cord (C1-T1). An interdisciplinary team-based approach was undertaken, including input from a generalist, an infectious diseases physician, and a pediatric neurologist. Consultation was sought from the Minnesota Department of Health to investigate for a potential etiology and source of the responsible infection. Evaluation for an infectious etiology demonstrated infection with human echovirus 11...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29152528/x-linked-lissencephaly-with-absent-corpus-callosum-and-abnormal-genitalia-an-evolving-multisystem-syndrome-with-severe-congenital-intestinal-diarrhea-disease
#19
David Coman, Tom Fullston, Cheryl Shoubridge, Richard Leventer, Flora Wong, Simon Nazaretian, Ian Simpson, Josef Gecz, George McGillivray
X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a multisystem phenotype where the intestinal manifestations were as life limiting as the central nervous system features. Severe chronic diarrhea resulted in failure to thrive, dehydration, electrolyte derangements, long-term hospitalization, and prompted transition to palliative care. Other multisystem manifestations included megacolon, colitis, pancreatic insufficiency hypothalamic dysfunction, hypothyroidism, and hypophosphatasia...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/29152527/novel-lrpprc-mutation-in-a-boy-with-mild-leigh-syndrome-french-canadian-type-outside-of-qu%C3%A3-bec
#20
Velda Xinying Han, Teresa S Tan, Furene S Wang, Stacey Kiat-Hong Tay
Background: Leigh syndrome, French-Canadian type is unique to patients from a genetic isolate in the Saguenay-Lac-Saint-Jean region of Québec. It has also been recently described in 10 patients with LRPPRC mutation outside of Québec. It is an autosomal recessive genetic disorder with fatal metabolic crisis and severe neurological morbidity in infancy caused by LRPPRC mutation. Methods and Results: The authors report a boy with a novel LRPPRC compound heterozygous missense mutations c...
January 2017: Child Neurology Open
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