Abstract:
OBJECTIVE:The aim of this study was to evaluate the spectrum of muscle involvement on MRI in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) due to mutations in the lamin A/C gene and to compare it to the pattern found in other conditions with similar phenotype. PATIENTS AND METHODS:Nine patients with a diagnosis of EDMD2 had MRI scanning of their leg muscles. Seven other patients, four with the X-linked form of Emery-Dreifuss muscular dystrophy (EDMD) and three with an Emery-Dreifuss-like phenotype but no detectable mutations in either the emerin or the lamin A/C gene were also scanned as disease controls. RESULTS:All patients with EDMD2 showed a characteristic involvement of the posterior calf muscles. The medial head of the gastrocnemius was always predominantly involved while the lateral head was relatively spared. This pattern was more obvious in mildly affected patients in whom the other calf muscles were spared or only mildly involved but was also recognisable in the patients with more advanced disease. In contrast, none of the patients with the X-linked EDMD or with Emery-Dreifuss-like phenotype but no mutation in either genes showed this pattern of muscle involvement. CONCLUSIONS:Our results suggest that patients with EDMD2 have a specific pattern of muscle involvement and that muscle MRI can be used, in combination with other techniques, to distinguish various genetic forms of Emery-Dreifuss muscular dystrophy.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Mercuri E,Counsell S,Allsop J,Jungbluth H,Kinali M,Bonne G,Schwartz K,Bydder G,Dubowitz V,Muntoni Fdoi
10.1055/s-2002-23593subject
Has Abstractpub_date
2002-02-01 00:00:00pages
10-4issue
1eissn
0174-304Xissn
1439-1899journal_volume
33pub_type
杂志文章相关文献
NEUROPEDIATRICS文献大全abstract::This study aimed to investigate whether antenatal taurine can reduce neuronal apoptosis in fetal rat brains with intrauterine growth restriction (IUGR) and its possible mechanisms. A total of 15 pregnant rats were randomly divided into the following three groups: control, IUGR, and IUGR+ antenatal taurine supplements....
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0032-1324730
更新日期:2012-10-01 00:00:00
abstract::We describe a rare case of diffuse leptomeningeal oligodendrogliomatosis associated with the human herpes virus 6 variant A (HHV-6 A). A 2-year-old boy presented with progressive neurological symptoms and hydrocephalus. The patient had a VP shunt placement but did not fully recover. HHV-6 A was detected in both CSF an...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2002-36739
更新日期:2002-10-01 00:00:00
abstract::We are reporting the unique coexistence of two distinct neuromuscular diseases, myotonic dystrophy and the juvenile form of myasthenia gravis, occurring in one family. A 16-month-old previously healthy female presented with a two month history of bilateral varying drooping of both eyelids and bilateral external ophtha...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052426
更新日期:1987-02-01 00:00:00
abstract::The aim of this study was to evaluate the incidence of functional and neuroradiological abnormalities of the corpus callosum in a group of 21 prematurely born children (GA < 34 weeks) who were found to be "clumsy" on the Movement Assessment Battery for Children at 6 years of age. All children underwent functional and ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973801
更新日期:1996-12-01 00:00:00
abstract::Tuberculous meningitis is uncommon in western countries and its outcome is poor when it is not diagnosed and treated in good time. Here, we present a case of febrile brain stroke revealing a tuberculous arachnoiditis in a 13-month-old infant living in a non-endemic country. Thanks to prompt specific antibiotherapy, th...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0031-1273706
更新日期:2010-12-01 00:00:00
abstract::Immunohistochemical study of catecholamine synthesizing enzymes tyrosine hydroxylase (TH) and phenylethanolamine-N-methyl transferase (PNMT) was performed in lower brain stem of 5 controls and 9 sudden infant death "syndrome" (SIDS) cases. No difference was noticed in TH immunoreactive neuronal groups. With anti-PNMT ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071508
更新日期:1993-02-01 00:00:00
abstract::Rett syndrome affects young girls. The molecular basis is mysterious. One tenable hypothesis can be that the programmed early infantile death of neuronal cells is reprogrammed. The bcl-2 gene on chromosome 22 has been shown to play a role in the apoptosis process. No sequence abnormalities were detected in the bcl-2 g...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1073047
更新日期:1994-12-01 00:00:00
abstract::We report a 7-year-old boy with serologic evidence of active Epstein-Barr virus (EBV) infection who developed transient unilateral hypoglossal nerve palsy, with complete recovery within 21 days. This is, to our knowledge, the youngest reported patient with isolated hypoglossal nerve palsy in the context of EBV infecti...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973534
更新日期:1998-02-01 00:00:00
abstract::A human neuroblastoma cell line, LA-N-1 was used as a target cell in a I131 radiolabeled staphylococcal protein-A (I131-SpA) binding assay, to characterize the pattern of antineuronal activity of human sera in fifty-four cases of systemic lupus erythematosus (SLE) including twenty-six patients with neuropsychiatric ma...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052494
更新日期:1986-02-01 00:00:00
abstract::We investigated two brothers with Scheie syndrome whose only complaint was exercise intolerance. In the quadriceps muscle biopsy of both patients, between the normal muscle fibres an increased number of markedly swollen periodic acid-Schiff-positive fibroblasts were seen. Ultrastructurally, these cells showed an accum...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2001-13873
更新日期:2001-04-01 00:00:00
abstract::Lacosamide (LCM) due to no known drug interaction and the absence of metabolic enzyme induction is a good candidate for an add-on medication, especially in combination with lamotrigine, levetiracetam (LEV), oxcarbazepine, topiramate, and valproic acid (VPA). Here we report for the first time, to our knowledge, that LC...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0037-1600112
更新日期:2017-06-01 00:00:00
abstract::The phenotypic expression of X-linked adrenoleukodystrophy (X-ALD) ranges from the rapidly progressive childhood cerebral form to the milder adrenomyeloneuropathy (AMN) in adults. It is not possible to predict phenotype by mutation analysis or biochemical assays. This study reports on 372 patients ranging in age from ...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-2000-9236
更新日期:2000-10-01 00:00:00
abstract:OBJECTIVE:This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. METHODS AND RESULTS:In a cohort of 22 patients with the magnetic resonance imaging (MRI) diagnosis of unclassified hypomyelination a...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0035-1550148
更新日期:2015-06-01 00:00:00
abstract::We report on 12 children with neuronal ceroid lipofuscinosis (NCL) diagnosed between 1974-1995 in the West of Scotland. Diagnosis was made on the basis of clinical, electrophysiological, radiological and pathological examination including electron microscopy (EM) in all cases. Incidence was calculated on the basis of ...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-2007-973690
更新日期:1997-06-01 00:00:00
abstract::Although Joubert syndrome (JS) was first reported in 1969 by Joubert et al (21), the long-term outcome is not yet documented. We report 19 children (4 pairs of siblings) from a single institution diagnosed with JS. Nine children were last seen between ages 10 and 18 years, seven between ages 1 and 4 years. Three child...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973701
更新日期:1997-08-01 00:00:00
abstract::Observations of extreme unilateral widening of Virchow-Robin spaces (VRS) are rare and hitherto confined to adult, mainly old-aged patients. Magnetic resonance imaging (MRI) was performed in two unrelated boys aged 3 years with developmental coordination disorders. In one of these patients, follow-up MRI and diffusion...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0029-1246158
更新日期:2009-10-01 00:00:00
abstract::Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an incidence of ∼1 in 4,000 live births. Neurofibromin, the gene product, is ubiquitously expressed at high levels in the nervous system and functions as a tumor suppressor. Haploinsufficiency of neurofibromin through mutation leads to an incr...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0037-1620239
更新日期:2018-06-01 00:00:00
abstract::Juvenile myasthenia gravis (JMG) is an autoimmune disorder of neuromuscular transmission caused by production of antibodies against components of the postsynaptic membrane of the neuromuscular junction. Ethnicity has influence on incidence, clinical presentation, and the course of the disease. The patients present wit...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0033-1364181
更新日期:2014-04-01 00:00:00
abstract::In order to determine the relationship between visual functions and neonatal cerebral ultrasound, neurological examinations and cognitive development, a prospective longitudinal study was conducted in 69 high-risk very-low-birthweight children. Visual development was studied at 1 and 2.6 years of corrected age by asse...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071533
更新日期:1993-06-01 00:00:00
abstract::Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1. Autosomal recessive ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0040-1701671
更新日期:2020-08-01 00:00:00
abstract::Mucolipidosis IV, a severe neurologic and ophthalmologic progressive disorder has a clinical range of onset between early childhood and adolescence entailing clinically severe, moderate, and mild forms, all of them majorly affecting Ashkenazi Jewish patients in an autosomal-recessive fashion owing to mutations in the ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2002-34496
更新日期:2002-08-01 00:00:00
abstract:BACKGROUND:Glutaryl-CoA dehydrogenase deficiency (GDD) is a recessively inherited neurometabolic disorder associated with encephalopathic crises and severe extrapyramidal symptoms. Treatment regimens including glucose and electrolyte infusions during acute illnesses, oral carnitine supplementation and/or a low-protein ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973761
更新日期:1996-06-01 00:00:00
abstract::We report a nine-year-old boy with the features of Leigh syndrome (LS) and a severe cytochrome-c oxidase (COX) deficiency with a single thymidine insertion at nucleotide position 5537 (T 5537i) in the tRNA Trp gene of mitochondrial DNA. During infancy the boy was irritable and hypotonus was noticed. Early motor develo...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2003-39607
更新日期:2003-04-01 00:00:00
abstract::Epidermal nevus syndrome (ENS) is a congenital neurocutaneous disorder characterized by linear nevus with a significant involvement of the nervous, ophthalmological and skeletal systems. Clinical manifestations of ENS include neurological features such as mental retardation, seizures, and movement disorders which are ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2000-7457
更新日期:2000-08-01 00:00:00
abstract::Barbiturate anaesthesia is used in the treatment of status epilepticus and severe epilepsy of children. EEG is then used as a measure of the depth of anaesthesia, burst suppression being an easily identified EEG pattern. In this case report we describe epileptiform discharges during EEG suppression in two children und...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1073036
更新日期:1994-10-01 00:00:00
abstract::Congenital or acquired disorders of hemostasis can cause thrombotic events in adults as well as in children. Recently, acute neurologic complications such as hemiparesis or transitory ischemic attacks (TIA) have been reported in patients with different disorders of hemostasis. In addition, the interaction between anio...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1071573
更新日期:1994-02-01 00:00:00
abstract::A forme fruste Rett variant female with partially preserved speech remnants is described. She was first seen by the author at an age of 4 years. She then presented with an unspecific syndrome of moderate mental retardation. At follow-up when aged 32 she had successively through the years developed a number of Rett cha...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-979730
更新日期:1995-04-01 00:00:00
abstract::Five patients with the clinical diagnosis of fetal alcohol syndrome (FAS) died at the ages of 8 and 4 months and 17, 4 and 2 days. Neuropathological examination revealed microencephalic brains in all cases, without morphological evidence of maturation delay. One of them showed agenesis of the corpus callosum and hypop...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1059578
更新日期:1983-11-01 00:00:00
abstract::The response of kidney and bone to parathyroid extract (PTE) was investigated in 8 epileptic children on long-term treatment with primidone in combination with phenytoin or other anticonvulsant drugs. The results indicate a dissociation between normal and cyclic AMP excretion and disturbed renal handling of phosphate ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1059588
更新日期:1982-02-01 00:00:00
abstract:OBJECTIVES:This study aims to evaluate the drawings effectiveness in childhood headache assessment. BACKGROUND:Headache is a common cause of pain in children. Although drawings have been used in childhood to recognize psychological insights and pain perception, they were rarely used for headache characterization. MET...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0035-1550147
更新日期:2015-08-01 00:00:00