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Neurology; child neurology

Muralidhar Pai K, R Chandrasekhar Naidu, A Raja, Y S Rai, Niranjan Kumar, Anand Kini, Santhosh Joseph, Vinod Hegde, H S Ballal, Ramoorthi Rao, Saroja V Sharma, Vinay Kumar Valakatte
Craniopagus twins are conjoined twins fused at the cranium. This is the rarest anomaly seen in conjoined twins and craniopagus twins account for 2- 6% of conjoined twins. Conjoined twins are also extremely rare, with the anomaly seen in about 10-20 subjects per billion births. A female preponderance has been noted. Craniopagus twins can be classified into complete or partial, depending on whether or not they have shared dural venous sinuses. They can be further classified into angular or total depending on the alignment of the inter-twin longitudinal axis...
March 2018: Neurology India
Brian C Goh, Amit Jain, Paul D Sponseller
CASE: A 12-year-old girl with osteogenesis imperfecta (OI) underwent posterior spinal arthrodesis (from T2 to the sacrum) for double major-curve scoliosis. She developed complete paralysis of all of the extremities 24 hours after surgery, without evidence of ischemia or infarction. The rods were removed, and the neurologic status improved; there was full restoration of strength within 1 week. She then underwent in situ fixation. At the 2-year follow-up, there had been no lapse in neurologic function...
March 14, 2018: JBJS Case Connector
Alexander Grahofer, Jeanette Bannoehr, Heiko Nathues, Petra Roosje
BACKGROUND: Scabies is a contagious skin disease rarely described in miniature pigs. To the best of the authors' knowledge, a zoonotic transfer from infected pet pigs to humans has not been reported previously. CASE PRESENTATION: This case report describes the infestation with Sarcoptes scabiei mites in two miniature pigs presenting with unusual clinical signs, and disease transmission to a child. Two 7-month-old male castrated miniature pig siblings were examined...
March 13, 2018: BMC Veterinary Research
Rainer U Pliquett, Arno Noll, Richard Ibe, Alexandra Katz, Charlotte Ackmann, Alexandra Schreiber, Matthias Girndt
BACKGROUND: Here, we report a case of central pontine demyelinization in a type-2 diabetes patient with hyperglycemia after a binge-eating attack in the absence of a relevant hyponatremia. CASE PRESENTATION: A 55-year-old, male type-2 diabetic patient with liver cirrhosis stage Child-Pugh B was admitted due to dysmetria of his right arm, gait disturbance, dizziness, vertigo, and polyuria, polydipsia after a binge-eating attack of sweets (a whole fruit cake and 2 Liters of soft drinks)...
March 12, 2018: BMC Endocrine Disorders
Ann H Tilton
PURPOSE OF THE REVIEW: The goal of the article is to describe a systematic approach through core principles and steps for the transition of the patient with a neurological disorder to the adult model of care, to provide steps and principles to help receiving providers successfully integrate the patient into their practice, and to discuss cultural, systemic, and discipline-based barriers to transition. RECENT FINDING: The literature has expanded rapidly. The recent publications help define the barriers to the process and are currently exploring the best methods to evaluate readiness, needs, barriers, and develop solutions for best practices...
March 10, 2018: Current Neurology and Neuroscience Reports
Christopher M Bonfield, Rachel Pellegrino, Jillian Berkman, Robert P Naftel, Chevis N Shannon, John C Wellons
OBJECTIVE Both the American Association of Neurological Surgeons/Congress of Neurological Surgeons Joint Section on Pediatric Neurological Surgery (AANS/CNS Pediatric Section) and the International Society for Pediatric Neurosurgery (ISPN) annual meetings provide a platform for pediatric neurosurgeons to present, discuss, and disseminate current academic research. An ultimate goal of these meetings is to publish presented results in peer-reviewed journals. The purpose of the present study was to investigate the publication rates of oral presentations from the 2009, 2010, and 2011 AANS/CNS Pediatric Section and ISPN annual meetings in peer-reviewed journals...
March 9, 2018: Journal of Neurosurgery. Pediatrics
Federico Bianchi, Gianpiero Tamburrini, Marco Gessi, Paolo Frassanito, Luca Massimi, Massimo Caldarelli
BACKGROUND: Primary central nervous system (CNS) neuroblastoma is a rare intracranial tumor affecting children mainly in the first years of life. It is usually a supratentorial tumor with a wide spectrum of clinical presentation, seizures, and focal neurological deficits being the most common presenting signs. CASE DESCRIPTION: A 2-year-old child was admitted to our ward after a generalized seizure. Neurological examination was normal. Radiological studies showed a small DWI hyperintense lesion of the right rectus gyrus...
March 8, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Debora M Moore, Denise Rizzolo
Sandifer syndrome is a rare complication of gastroesophageal reflux disease that may be more common than reported. This syndrome was first mentioned more than 50 years ago with minimal documentation in the medical literature. Because of the presentation, the patient may be referred for lengthy, expensive, and unnecessary neurologic testing. This may lead to a missed or delayed diagnosis, mismanagement, and the use of inappropriate medication. Providers should be aware of Sandifer syndrome when evaluating a child with torticollis or unusual posturing that is not associated with neuromuscular disease or injury...
March 6, 2018: JAAPA: Official Journal of the American Academy of Physician Assistants
A Klin, W Jones
The future of neurodevelopmental medicine has the potential of situating child neurology at the forefront of a broad-based public health effort to optimize neurodevelopmental outcomes of children born with high-prevalence and diverse genetic, pre- and peri-natal, and environmental burdens compromising early brain development and leading to lifetime disabilities. Building on advancements in developmental social neuroscience and in implementation science, this shift is already occurring in the case of emblematic neurodevelopmental disorders such as autism...
March 1, 2018: Revista de Neurologia
Marcio Leyser
No abstract text is available yet for this article.
January 1, 2018: Journal of Child Neurology
Charles G Kulwin, Troy D Payner, Rick F Nelson, Laurie L Ackerman, Daniel H Fulkerson
BACKGROUND: Brainstem cavernous malformations (cavernomas) in children have a high risk of hemorrhage and neurological deterioration. This risk is magnified if the child has a genetic predisposition for cavernoma formation. The surgical management is challenging and carries a significant risk of morbidity. OBJECTIVE: To describe the feasibility of a posterior petrosal approach to brainstem cavernomas in a pediatric population. METHODS: A single institution operative experience with this technique was reviewed; 2 cases were identified and are technically described here with supportive figures and illustrations, as well as a focused literature review...
March 3, 2018: Operative Neurosurgery (Hagerstown, Md.)
Gohar Nikoghosyan-Bossen
In the absence of any known neurological condition, dyspraxia is the inability to plan and execute movement. This case report describes a girl with swallowing difficulties, who was diagnosed with oral dyspraxia, as all other possible explanations had been ruled out. A percutaneous endoscopic gastrostomy was performed at the age of 6.5 months, and as a five-year-old she was still dependent on supplementary nutrition through the tube, even though she had gradually learned to swallow. Her difficulties to correctly pronounce syllables and words were later diagnosed as childhood apraxia of speech, another subtype of dyspraxia...
February 26, 2018: Ugeskrift for Laeger
Syeda Sara Batool Hamdani, Huma Arshad Cheema, Anjum Saeed, Hassan Suleman Malik, Tayaba Sehar
BACKGROUND: Wilson disease (WD) is one of the most common metabolic liver diseases in older children. It has a strong genetic background with autosomal recessive inheritance. WD is a multisystem disorder with predominant hepatic and neurological manifestations and variable age of presentation. The data on cardiac manifestations in children is very limited and only few adult studies are available in the literature. This study was planned to determine the frequency and spectrum of Electrocardiographic (ECG) changes in pediatric WD...
January 2018: Journal of Ayub Medical College, Abbottabad: JAMC
Rahul Badheka, Narendra Kumar Barad, Charulata Savant Sankhla
Pediatric movement disorders are commonly encountered clinical entities in the pediatric outpatient department. These disorders are a heterogenous group of disorders and may represent an underlying genetic disorder, a metabolic disorder or a hypoxic-ischemic insult during the perinatal period. Hyperkinetic movement disorders are more common as compared to hypokinetic disorders. This is unlike the situation in adult movement disorders where hypokinetic disorders are more often seen. A child's nervous system is more prone to hypoxic-ischemic insults due to its higher metabolic demands and the presence of an immature blood-brain barrier...
March 2018: Neurology India
Nesreen K Al-Jezawi, Aisha M Al-Shamsi, Jehan Suleiman, Salma Ben-Salem, Anne John, Ranjit Vijayan, Bassam R Ali, Lihadh Al-Gazali
BACKGROUND: Congenital hydrocephalus (CH) results from the accumulation of excessive amounts of cerebrospinal fluid (CSF) in the brain, often leading to severe neurological impairments. However, the adverse effects of CH can be reduced if the condition is detected and treated early. Earlier reports demonstrated that some CH cases are caused by mutations in L1CAM gene encoding the neural cell adhesion molecule L1. On the other hand, recent studies have implicated the multiple PDZ domain (MPDZ) gene in some severe forms of CH, inherited in an autosomal recessive pattern...
March 2, 2018: BMC Medical Genetics
Monica Juneja, Uzma Shamim, Aditi Joshi, Aradhna, Bharathram Uppili, Smitha Sairam, Sakshi Ambawat, Rashmi Dixit, Mohammed Faruq
INTRODUCTION: Mutations in SLC39A14 have recently been known to cause a recessive disorder of manganese metabolism that manifest as childhood onset progressive neurodegeneration characterized by parkinsonism and dystonia. AIM: To genetically investigate a case of hypermanganesemia. RESULTS: We describe a family where an affected child with history of progressive neurodegeneration showed symptoms of dystonia with increased levels of blood manganese and altered signal intensities in globus pallidus and dentate nucleus...
March 2, 2018: Journal of Gene Medicine
Svetlana O Sharapova, Alena V Valochnik, Irina E Guryanova, Inga S Sakovich, Olga V Aleinikova
Ataxia-telangiectasia (AT) is a rare neurodegenerative disease characterized by an early onset ataxia, oculocutaneous telangiectasia, immunodeficiency, recurrent infections, radio-sensitivity, and a predisposition to malignancy. We present the case of a child with coexistent AT and trisomy X (47,XXX). We used fluorescent in situ hybridization (FISH) to confirm that this person had 47,XXX karyotype in blood cells, bone marrow, fibroblasts, and buccal smear. Standard cytogenetic studies (not banded) were conducted on blood cells...
February 28, 2018: Immunogenetics
David E Lowe, Jennifer R Robbins, Anna I Bakardjiev
Intrauterine infections lead to serious complications for mother and fetus including preterm birth, maternal and fetal death, and neurologic sequelae in the surviving offspring. Improving maternal-child heath is a global priority. Yet, the development of strategies to prevent and treat pregnancy-related diseases has lagged behind progress made in other medical fields. One of the challenges is finding tractable model systems that replicate the human maternal-fetal interface. Animal models offer the ability to study pathogenesis and host defenses in vivo However, the anatomy of the maternal-fetal interface is highly divergent across species...
February 26, 2018: Infection and Immunity
Katie Carpenter, Anja Wittkowski, Dougal J Hare, Emma Medford, Stewart Rust, Simon A Jones, Debbie M Smith
Phenylketonuria (PKU) is a rare inherited metabolic disorder which can cause neurological damage if left untreated. PKU is identified through newborn screening in developed countries, and treatment begins immediately to prevent these severe consequences. When a child is diagnosed, parents must assume immediate responsibility for the management of PKU and prevention of neurological damage. Quantitative studies have identified significant psychosocial stressors for parents, but little is known about how the parents experience this process...
February 21, 2018: Journal of Genetic Counseling
Ciro Esposito, Amulya Saxena, Sabine Irtan, Holger Till, Maria Escolino
INTRODUCTION: Respiratory manifestations of gastroesophageal reflux disease (GERD), particularly chronic cough, are being recognized with increased frequency in children. This survey aimed to investigate the efficacy of laparoscopic Nissen fundoplication for treatment of GERD-related respiratory symptoms not responsive to medical therapy in neurological normal children. MATERIALS AND METHODS: We collected data of children with GERD-related respiratory complaints not responsive to medical therapy who underwent laparoscopic Nissen fundoplication in four European centers of Pediatric Surgery over a 10-year period...
February 21, 2018: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
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