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Child neurology

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https://www.readbyqxmd.com/read/28340286/bringing-the-world-of-child-neurology-together
#1
EDITORIAL
Jean-Pierre Lin
No abstract text is available yet for this article.
January 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28337648/diagnosis-and-treatment-of-alternating-hemiplegia-of-childhood
#2
REVIEW
Melanie Masoud, Lyndsey Prange, Jeffrey Wuchich, Arsen Hunanyan, Mohamad A Mikati
The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its complex and fluctuating manifestations, and with cutting edge advances occurring in the field. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important...
February 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28328806/craniosynostosis-scheuermann-s-disease-and-intellectual-disability-resembling-shprintzen-goldberg-syndrome-a-report-on-a-family-over-4-generations-case-report
#3
Ali Al Kaissi, Zahra Marrakchi, Nabil M Nassib, Jochen Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
RATIONALE: Craniosynostosis is a disorder characterized by premature fusion of cranial sutures with subsequent development of abnormal craniofacial contour associated with variable skeletal and extra-skeletal abnormalities. In this family syndromic type of craniosynostosis was recognized and the etiology behind diverse forms of deformities have been diagnosed. PATIENT CONCERNS: The negative impact of the disorder on the child and his family is enormous. Particularly when the diagnosis is late and little can be done...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28326208/a-child-as-a-donor-for-hematopoietic-stem-cell-transplantation-bioethical-justification-a-case-study-on-sickle-cell-disease
#4
Andrea Z Pereira, Ricardo Hellman, Nelson Hamerschlak, Andrea Kondo, Polianna Mara Rodrigues de Souza, Wilson Leite Pedreira, Luiz Fernando Alves Lima Mantovani, Eduardo Juan Troster, Henrique Grunspun, Marco Aurélio Scarpinella Bueno
Hematopoietic stem cell transplantation (HSCT) is an important treatment option for children with severe and refractory sickle cell disease (SCD) with debilitating clinical complications. HSCT with cells from the bone marrow of a HLA-identical sibling used in SCD has a low mortality risk, high cure rate, and high event-free survival rate after a median follow-up of 5-6 years. However, matched donors are found in only about 20% of the patients. A boy aged 8 years with SCD had a sister, <2 years old, a fully compatible donor...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28325379/-diagnosis-and-emergency-treatment-of-stroke-in-children
#5
Gaëlle Gousse, Stéphane Chabrier, Manoëlle Kossorotoff
The sudden occurrence of a focal neurological deficit, sometimes transitory and fluctuating, must lead to a suspicion of a stroke, including in a child. The preferred examination is magnetic resonance imaging with magnetic resonance angiography in an emergency. The sequelae of stroke are common and severe. Urgent diagnosis and adapted care can help to improve morbidity-mortality. Rehabilitation starts early and must systematically screen for cognitive or language impairment. The management of a stroke in a child must be planned for in multi-disciplinary protocols established before the patient's arrival at hospital...
March 2017: Soins. Pédiatrie, Puériculture
https://www.readbyqxmd.com/read/28322177/prevalence-estimate-of-cerebral-palsy-in-northern-alberta-births-2008-2010
#6
Charlene M T Robertson, M Florencia Ricci, Kathleen O'Grady, Maryam Oskoui, Helly Goez, Jerome Y Yager, John C Andersen
OBJECTIVES: The objectives of this study were to determine prevalence estimates of cerebral palsy (CP) among 5-year-old children in northern Alberta; to provide congenital, gestational age- and birth weight-specific, and postneonatal CP rates; and to describe motor subtypes and function. METHODS: This population-based prevalence estimate study, part of the Canadian Cerebral Palsy Registry, reports confirmed CP diagnoses at age 5 years made by pediatric rehabilitation and child neurology specialists...
March 21, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28321515/isolated-optic-neuritis-associated-with-mycoplasma-pneumoniae-infection-report-of-two-cases-and-literature-review
#7
Seo-Young Choi, You-Jin Choi, Jae-Hwan Choi, Kwang-Dong Choi
Mycoplasma pneumonia is a major pathogen of primary atypical pneumonia and has been known to cause various kinds of extrapulmonary manifestations involving almost all organs of the human body. Optic neuritis associated with M. pneumoniae infection has rarely been described and mostly, it combined other neurological complications including meningitis, meningoencephalitis, myelitis, and peripheral neuropathy. We report two patients who presented with isolated optic neuritis due to M. pneumoniae infection, and reviewed the literatures on five additional patients...
March 20, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28318192/-abdominal-pain-as-a-presentation-by-lead-poisoning-case-report
#8
Daniel M Mottiera, Elda Cargnel
Acute lead poisoning is not a common pathology seen in the pediatrician's office. Lead poisoning symptoms can be digestive or neurological, and they can be confused with other pathologies. That is the reason why it should be considered and, in case of doubt, complementary studies to confirm lead poisoning should be requested. This is the case of a nine-year-old child that comes to the office with a strong abdominal pain and vomiting, and after a close physical examination and a detailed anamnesis, a suspicious diagnosis of "acute" lead poisoning is obtained...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28318055/menkes-disease-mimicking-child-abuse
#9
Rebecca J Droms, Jillian F Rork, Riley McLean, Madelena Martin, Leah Belazarian, Karen Wiss
Althouygh Menkes disease has well-recognized neurologic, developmental, and cutaneous features, the initial presentation may resemble child abuse. We describe a 5-month-old boy with multiple fractures indicative of nonaccidental trauma who was ultimately diagnosed with Menkes disease. Copper deficiency leads to connective tissue abnormalities and may result in subdural hematomas, wormian bones, cervical spine defects, rib fractures, and spurring of the long bone metaphyses. Several of these findings, including fractures and subdural hematomas, may be misinterpreted as child abuse...
March 20, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28304316/perspectives-and-attitudes-of-pediatricians-concerning-post-discharge-care-practice-of-premature-infants
#10
A Gad, E Parkinson, N Khawar, A Elmeki, P Narula, D Hoang
OBJECTIVE: Survival rates of premature infants are at a historical high and increasingly more pediatricians are caring for former premature infants. The goal of this study was to describe the perspectives and attitudes of pediatricians, as well as, the challenges of rendering post-neonatal intensive care unit (NICU) discharge care for premature infants. METHODS: An anonymous 22-question web-based survey was emailed to pediatricians who are current members of the American Academy of Pediatrics (AAP) and practicing in Kings County, New York...
March 16, 2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/28302280/blunt-cerebrovascular-injury-in-children
#11
Stephen J Fenton, Robert J Bollo
Blunt cerebrovascular injury in children is an uncommon occurrence that if missed and left untreated can result in devastating long-term neurologic consequences. Diagnosis can be readily obtained by a computed tomographic angiogram of the head and neck. If confirmed, treatment with antithrombotic therapy dramatically reduces the risk of a cerebrovascular accident. The difficulty lies in determining which child should be screened for such an injury. Several institutions have come up with criteria for screening...
February 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28301882/infantile-hemangioma-of-the-posterior-fossa-in-a-newborn-early-management-and-long-term-follow-up
#12
Elsa Haine, Annick Sevely, Sergio Boetto, Marie-Bernadette Delisle, Claude Cances
A 21-day-old male infant was admitted with signs of intracranial hypertension. Brain magnetic resonance imaging (MRI) revealed a voluminous mass in the posterior fossa with an intense peripheral enhancement on T1 images with gadolinium. The child was treated secondarily by surgical decompression of the posterior fossa and the lesion was biopsied. The pathological findings indicated infantile hemangioma. Treatment with oral prednisolone was initiated at 3 months, given the lack of tumor involution. Six months after corticotherapy was stopped, repeated MRIs indicated a significant reduction in tumor size and then complete disappearance...
March 16, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28300031/epileptic-spasms-in-congenital-disorders-of-glycosylation
#13
Andreia G Pereira, Nadia Bahi-Buisson, Christine Barnerias, Nathalie Boddaert, Rima Nabbout, Pascale de Lonlay, Anna Kaminska, Monika Eisermann
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation of proteins and lipids. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare. We describe, retrospectively, the electroclinical features in five children with CDG syndrome and epileptic spasms. Epileptic spasms were observed in patients with CDG Ik, Ic, Ix, and Ip subtypes, and occurred at an early age, before 6 months in all cases, except one who had spasms that started at 18 months...
March 14, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28298846/menkes-disease-and-response-to-copper-histidine-an-indian-case-series
#14
Sangeetha Yoganathan, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Annadurai Subramanian, Renu George, Sumita Danda
BACKGROUND: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers. However, on rare occasions, females may manifest with classical clinical phenotype due to skewed X-chromosome inactivation, X-autosome translocation, and XO genotype. Here, we describe a small series of probands with MD and their response to copper histidine therapy...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28291420/de-novo-formation-of-a-large-cavernoma-associated-with-a-congenital-torcular-dural-arteriovenous-fistula-case-report
#15
Waleed Brinjikji, Kelly D Flemming, Giuseppe Lanzino
The authors report a case of a developmentally normal child with a congenital complex torcular dural arteriovenous fistula (DAVF) who later, in his teenage years, developed several vermian cavernomas within a large cerebellar developmental venous anomaly (DVA). The patient had initially presented with an abnormally large head circumference but no neurological deficits. He underwent several partial embolization procedures in an attempt to decrease the blood supply of the fistula over the course of 8 years. Nine years following initial presentation, he presented with a fourth ventricular hemorrhage, due to development of a new vermian cavernoma adjacent to a previously known vermian DVA and suffered subsequent mild left-sided hemiataxia from which he later recovered...
February 17, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28289173/child-neurology-rocky-mountain-spotted-fever-encephalitis
#16
Michael J Bradshaw, Kathryn B Lalor, NgocHanh Vu, Sumit Pruthi, Karen C Bloch
No abstract text is available yet for this article.
March 14, 2017: Neurology
https://www.readbyqxmd.com/read/28287497/role-of-genetics-in-the-etiology-of-autistic-spectrum-disorder-towards-a-hierarchical-diagnostic-strategy
#17
REVIEW
Cyrille Robert, Laurent Pasquier, David Cohen, Mélanie Fradin, Roberto Canitano, Léna Damaj, Sylvie Odent, Sylvie Tordjman
Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with autism spectrum disorder (ASD). The objective of this article is to show the diversity of genetic disorders associated with ASD (based on an extensive review of single-gene disorders, copy number variants, and other chromosomal disorders), and consequently to propose a hierarchical diagnostic strategy with a stepwise evaluation, helping general practitioners/pediatricians and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disorders associated with ASD...
March 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28286253/chiari-i-malformation-in-a-child-with-pten-hamartoma-tumor-syndrome-association-or-coincidence
#18
Veronica Saletti, Silvia Esposito, Angelo Maccaro, Sabrina Giglio, Laura Grazia Valentini, Luisa Chiapparini
PTEN hamartoma tumor syndrome (PHTS) refers to a group of clinical conditions caused by germline mutations in the PTEN tumor suppressor gene. Increasing evidence has documented that PHTS may be associated with a broader spectrum of structural brain abnormalities, including dysplastic gangliocytoma of the cerebellum, brain tumors, vascular malformations, white matter abnormalities, dilated perivascular spaces and cortical dysplasia. We report a PTEN-mutated child showing macrocephaly, mild intellectual disability and epilepsy symptomatic of right occipital polymicrogyria, who also developed Chiari I Malformation (CIM) that repeatedly required surgical correction...
March 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28283964/recurrent-gastrointestinal-disturbance-abdominal-migraine-and-cyclic-vomiting-syndrome
#19
REVIEW
Samantha Irwin, Rebecca Barmherzig, Amy Gelfand
Primary headache disorders, including migraine, are some of the most common neurological disorders presenting to hospital. Episodic syndromes that may be associated with migraine, including recurrent gastrointestinal disturbances such as abdominal migraine and cyclic vomiting, often pre-date or co-occur with the onset of migraine in a child who is at risk of developing the headache condition. The purpose of this review is to evaluate the two most common episodic syndromes, abdominal migraine and cyclic vomiting syndrome, including their pathophysiology, common presentations, and diagnostic criteria...
March 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28282665/honorary-award-of-the-german-speaking-society-of-child-neurology-for-the-year-2016-gesellschaft-f%C3%A3-r-neurop%C3%A3-diatrie-for-ingeborg-sophie-kr%C3%A3-geloh-mann
#20
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