Hacohen Y.,Childrens Neurosciences Center |
Joseph S.,Royal Hospital for Sick Children |
Kneen R.,Alder Hey Childrens NHS Foundation Trust |
Eunson P.,Paediatric Neurology |
And 3 more authors.
Journal of Child Neurology | Year: 2014
Immune-mediated limbic encephalitis affects both adults and children. Patients typically present with seizures, memory problems, and imaging changes in the medial temporal lobes. Both paraneoplastic and nonparaneoplastic forms have been described in which the antibody to the voltage-gated potassium channel-complex associated protein, leucine-rich glioma-inactivated 1, is most commonly reported. Elevated antithyroid antibodies have also been reported in a range of neurological syndromes with encephalopathy, such as limbic encephalitis, often collectively termed Hashimoto encephalopathy, a condition whereby corticosteroids responsiveness with a complete recovery is commonly observed. Here we describe 3 children presenting with limbic encephalitis with elevated thyroid antibodies that did not respond to corticosteroids alone and required more aggressive immunotherapy, mirroring the slower treatment response that is more frequently seen in other immune-mediated forms of limbic encephalitis. © The Author(s) 2013.
Ahmed M.A.S.,Queens University |
Martinez A.,Paediatric Neurology |
Cahill D.,Queens University |
Chong K.,Great Ormond Street Hospital |
Whitehouse W.P.,University of Nottingham
Acta Paediatrica, International Journal of Paediatrics | Year: 2010
Aims: The aim of this study was to develop and refine a decision rule on when to undertake brain imaging (BI) in neurologically normal children with headaches. Methods: From the literature and a questionnaire study, a list of red flags (RFs) was drawn-up. During the prospective 4-year period, consecutive children with headache were classified according to RFs and the headache diagnosis. Result: Three of 709 (0.4%) neurologically normal children had significant brain abnormalities. BI was carried out in 389 of 498 (78%) children with RFs. Significant abnormalities were found in three of 389 children (0.8%), all had unclassified headache (UH). BI was not arranged for the 211 children with no RFs. None of these developed RFs or abnormal signs on follow-up for a mean of 13 months. Conclusion: In addition to BI for those with neurological signs, we think BI should be considered for neurologically normal patients with UH and RFs. This would have saved imaging children needlessly: only 101 of 709 (14%) would have had scans arranged, instead of 389 of 709. © 2010 Foundation Acta Pædiatrica.
Rodrigues M.,Auckland Mail Center |
Hammond-Tooke G.,University of Otago |
Kidd A.,Canterbury Health Laboratories |
Love D.,Diagnostic Genetics |
And 5 more authors.
Journal of Clinical Neuroscience | Year: 2012
The development of effective treatments for neuromuscular diseases is a significant challenge due to difficulties in identifying adequate numbers of patients for clinical trials. Low patient numbers in these rare diseases also has an effect when establishing sound clinical practices based on experience gained from patients with similar diagnosis. The Muscular Dystrophy Association of New Zealand (MDA), working in consort with interested clinicians has established the New Zealand Neuromuscular Disease (NZ NMD) Registry in order to help address these problems. The NZ NMD Registry is exceptional in that it comprises one registry for all neuromuscular conditions and will significantly benefit both patients with neuromuscular disease and their clinicians. © 2012 Elsevier Ltd. All rights reserved.
Alston C.L.,Northumbria University |
He L.,Northumbria University |
Morris A.A.,University of Manchester |
Hughes I.,University of Manchester |
And 4 more authors.
European Journal of Human Genetics | Year: 2011
Mitochondrial respiratory chain disease represents one of the most common inborn errors of metabolism and is genetically heterogeneous, with biochemical defects arising from mutations in the mitochondrial genome (mtDNA) or the nuclear genome. As such, inheritance of mitochondrial respiratory chain disease can either follow dominant or recessive autosomal (Mendelian) inheritance patterns, the strictly matrilineal inheritance observed with mtDNA point mutations or X-linked inheritance. Parental consanguinity in respiratory chain disease is often assumed to infer an autosomal recessive inheritance pattern, and the analysis of mtDNA may be overlooked in the pursuit of a presumed nuclear genetic defect. We report the histochemical, biochemical and molecular genetic investigations of two patients with suspected mitochondrial disease who, despite being born to consanguineous first-cousin parents, were found to harbour well-characterised pathogenic mtDNA mutations, both of which were maternally transmitted. Our findings highlight that any diagnostic algorithm for the investigation of mitochondrial respiratory chain disease must include a full and complete analysis of the entire coding sequence of the mitochondrial genome in a clinically relevant tissue. An autosomal basis for respiratory chain disease should not be assumed in consanguineous families and that maternally inherited consanguineous mitochondrial disease may thus be going undiagnosed. © 2011 Macmillan Publishers Limited All rights reserved.
Rao S.,Frenchay Hospital |
Lux A.L.,Paediatric Neurology
Paediatrics and Child Health (United Kingdom) | Year: 2012
Child maltreatment is a significant worldwide problem, with consequences that can include impaired physical and mental health throughout life, and adverse social and occupational effects that carry a heavy economic and social burden. One estimate of cost to the US economy in 2007, for example, was over US$100bn. In middle- and low-income countries, there have been fewer studies of incidence and prevalence, and the economic and social costs are harder to estimate. It is very difficult to obtain full case ascertainment even in the most severe forms of child maltreatment, and even for fatal cases. In general, self-reporting and surveys identify higher rates of child maltreatment than data from sources relating to official notification. This paper reviews the epidemiology of child maltreatment from a practical perspective, with a focus on factors in the social environment, and the clinical history and examination, that predict an increased risk of child maltreatment. © 2012.