WordNet

arising in or stimulated by nerve tissues
an abnormal lateral curve to the vertebral column

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1. 思春期特発性側弯症：臨床的特徴、評価および診断 adolescent idiopathic scoliosis clinical features evaluation and diagnosis
2. 思春期特発性側弯症：マネージメントおよび予後 adolescent idiopathic scoliosis management and prognosis
3. 小児および思春期における腰痛：原因の概要 back pain in children and adolescents overview of causes
4. 潜在性脊椎閉鎖不全症：臨床症状、診断、およびマネージメント closed spinal dysraphism clinical manifestations diagnosis and management
5. 成人における腰痛の評価 evaluation of low back pain in adults

English Journal

Early infantile sensory-motor neuropathy with late onset respiratory distress.

Blaschek A1, Gläser D2, Kuhn M2, Schroeder AS3, Wimmer C4, Heimkes B5, Schön C6, Müller-Felber W7.Author information 1Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany. Electronic address: astrid.blaschek@med.uni-muenchen.de.2Genetikum, Neu-Ulm, Germany.3Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany; German Center for Vertigo and Balance Disorders, Munich University Hospital, Germany.4Schön Klinik Vogtareuth, Spinal Surgery with Scoliosis Centre, Vogtareuth, Germany.5Department of Orthopedic Surgery, Pediatric Orthopedic Unit, University Hospital Munich, Campus Grosshadern, Ludwig-Maximilians-University Munich, Germany.6Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany.7Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany.AbstractChildren with spinal muscular atrophy with respiratory distress (SMARD1) usually present within their first year of life, with respiratory failure due to diaphragmatic paralysis and progressive distal limb weakness. We present a child with a confirmed compound heterozygous IGHMBP2 mutation c.[676G>T];[2083A>T] in whom severe sensory-motor neuropathy preceded diaphragmatic paralysis by almost 3years. Autonomic system involvement with neurogenic bladder and urine retention were found at 3years. In summary, our patient highlights the broad spectrum of phenotypes observed in SMARD1. Currently, no prediction of phenotype according to genotype is possible, suggesting that yet unknown factors cause the observed phenotypic variation. Even in the absence of obvious diaphragmatic weakness, SMARD1 should be considered in severe infantile onset neuropathies. High throughput techniques, such as next generation sequencing, will possibly offer a useful approach in the heterogeneous group of inherited neuropathies.
Neuromuscular disorders : NMD.Neuromuscul Disord.2014 Mar;24(3):269-71. doi: 10.1016/j.nmd.2013.11.013. Epub 2013 Dec 1.
Children with spinal muscular atrophy with respiratory distress (SMARD1) usually present within their first year of life, with respiratory failure due to diaphragmatic paralysis and progressive distal limb weakness. We present a child with a confirmed compound heterozygous IGHMBP2 mutation c.[676G&g
PMID 24342282

Ganglioneuroma: to operate or not to operate.

Sánchez-Galán A1, Barrena S1, Vilanova-Sánchez A1, Martín SH1, Lopez-Fernandez S1, García P2, Lopez-Santamaria M1, Martínez L1, Tovar JA1.Author information 1Department of Pediatric Surgery, Hospital Universitario La Paz, Madrid, Spain.2Department of Pediatric Oncology, Hospital Universitario La Paz, Madrid, Spain.AbstractINTRODUCTION: Ganglioneuroma (GN) is a benign, differentiated variety of neurogenic tumor. It is often asymptomatic and may be diagnosed by serendipity. Surgical removal is the treatment of choice. However, it has been suggested that postoperative complications and sequelae might outweigh the benefits of this approach. The purpose of the present study was to examine these issues in a large experience of neural tumors.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift für Kinderchirurgie.Eur J Pediatr Surg.2014 Feb;24(1):25-30. doi: 10.1055/s-0033-1358790. Epub 2013 Dec 10.
INTRODUCTION: Ganglioneuroma (GN) is a benign, differentiated variety of neurogenic tumor. It is often asymptomatic and may be diagnosed by serendipity. Surgical removal is the treatment of choice. However, it has been suggested that postoperative complications and sequelae might outweigh the benefi
PMID 24327216

A Portuguese case of Hirayama disease.

Correia de Sá M1, Costa H, Castro S, Vila Real M.Author information 1Departemnt of Pediatrics, Centro Hospitalar Vila Nova de Gaia/Espinho, Porto, Portugal.AbstractHirayama disease, also known as monomelic amyotrophy or juvenile spinal muscular atrophy of the distal upper extremity features the impairment of the anterior horn cells of the distal cervical spinal cord secondary to dural sac anterior displacement during cervical flexion. We describe a case of a 17-year-old boy with a history of scoliosis, evaluated in the emergency department for decreased muscle strength and atrophy of the left upper limb with progressive worsening for about 6 months. We performed electrophysiological studies that showed severe neurogenic atrophy involving the C7-T1 left myotomes. Brain and spine MRI performed showed flattening of the lower cervical cord and dura mater anterior displacement during cervical flexion. These findings were consistent with the diagnosis of Hirayama disease.
BMJ case reports.BMJ Case Rep.2013 Oct 28;2013. pii: bcr2013200645. doi: 10.1136/bcr-2013-200645.
Hirayama disease, also known as monomelic amyotrophy or juvenile spinal muscular atrophy of the distal upper extremity features the impairment of the anterior horn cells of the distal cervical spinal cord secondary to dural sac anterior displacement during cervical flexion. We describe a case of a 1
PMID 24165502