Nodding syndrome in Ugandan children--clinical features, brain imaging and complications: a case series.
Nodding syndrome in Ugandan children--clinical features, brain imaging and complications: a case series.
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DOI：
10.1136/bmjopen-2012-002540
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发表时间：
2013-05-03
期刊：
影响因子：
2.9
通讯作者：
Tumwine JK
中科院分区：
文献类型：
--
作者：
Idro R;Opoka RO;Aanyu HT;Kakooza-Mwesige A;Piloya-Were T;Namusoke H;Musoke SB;Nalugya J;Bangirana P;Mwaka AD;White S;Chong K;Atai-Omoruto AD;Mworozi E;Nankunda J;Kiguli S;Aceng JR;Tumwine JK
点头综合症是一种影响非洲儿童的病因不明的毁灭性神经系统疾病。目前还没有诊断测试，早期诊断的风险因素和症状记录也很差。本研究旨在描述乌干达儿童点头综合征的临床、电生理和脑成像（MRI）特征和并发症。系列。22名患有点头综合症的儿童被送往穆拉戈国家转诊医院进行评估。临床特征、身体和功能障碍、脑电图和脑MRI结果以及症状和并发症进展的分期系统。症状发作的中位年龄为6岁（范围4-10岁），症状的中位持续时间为8.5年（范围2-11年）。22个家庭中有16个报告了多名患病儿童。身体表现和并发症包括发育迟缓、消瘦、嘴唇变化和严重的身体畸形。骨龄延迟2年（1-6年）。周围肌肉萎缩和进行性全身萎缩。只有4个孩子的癫痫发作类型是点头；另外，18例患者在发病后1-3年出现肌阵挛、缺乏症和/或全身性强直-阵挛性癫痫发作。精神表现包括徘徊、攻击、抑郁和感知障碍。三名儿童的认知评估表现出严重的损害。脑电图均异常，提示多数为全身性癫痫。脑MRI表现为不同程度的皮质和小脑萎缩，海马未见改变。身体、脑电图和脑成像特征恶化的五个阶段被确定为：前驱症状、出现点头和认知能力下降、其他癫痫类型、多种并发症和严重残疾。点头综合征是一种神经系统疾病，可能表现为全身性癫痫的症状。临床表现和并发症是分阶段发展的，这可能有助于确定治疗和康复。迫切需要对危险因素、发病机制、管理和结果进行研究。
Nodding syndrome is a devastating neurological disorder of uncertain aetiology affecting children in Africa. There is no diagnostic test, and risk factors and symptoms that would allow early diagnosis are poorly documented. This study aimed to describe the clinical, electrophysiological and brain imaging (MRI) features and complications of nodding syndrome in Ugandan children. Case series. 22 children with nodding syndrome brought to Mulago National Referral Hospital for assessment. Clinical features, physical and functional disabilities, EEG and brain MRI findings and a staging system with a progressive development of symptoms and complications. The median age of symptom onset was 6 (range 4–10) years and median duration of symptoms was 8.5 (range 2–11) years. 16 of 22 families reported multiple affected children. Physical manifestations and complications included stunting, wasting, lip changes and gross physical deformities. The bone age was delayed by 2 (range 1–6) years. There was peripheral muscle wasting and progressive generalised wasting. Four children had nodding as the only seizure type; 18 in addition had myoclonic, absence and/or generalised tonic–clonic seizures developing 1–3 years after the onset of illness. Psychiatric manifestations included wandering, aggression, depression and disordered perception. Cognitive assessment in three children demonstrated profound impairment. The EEG was abnormal in all, suggesting symptomatic generalised epilepsy in the majority. There were different degrees of cortical and cerebellar atrophy on brain MRI, but no hippocampal changes. Five stages with worsening physical, EEG and brain imaging features were identified: a prodrome, the development of head nodding and cognitive decline, other seizure types, multiple complications and severe disability. Nodding syndrome is a neurological disorder that may be characterised as probably symptomatic generalised epilepsy. Clinical manifestations and complications develop in stages which might be useful in defining treatment and rehabilitation. Studies of risk factors, pathogenesis, management and outcome are urgently needed.
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DOI：
10.1016/0035-9203(61)90024-4
发表时间：
1961-01-01
期刊：
TRANS ROY SOC TROP MED AND HYG
影响因子：
--
作者：
MARSHALL, A. J.;CHERRY, J. K. T.
通讯作者：
CHERRY, J. K. T.
DOI：
10.4269/ajtmh.1996.54.80
发表时间：
1996-01-01
影响因子：
3.3
作者：
Kipp, W;Burnham, G;Leichsenring, M
通讯作者：
Leichsenring, M
影响因子：
5.6
作者：
Winkler, Andrea S.;Friedrich, Katrin;Schmutzhard, Erich
通讯作者：
Schmutzhard, Erich
影响因子：
0.6
作者：
Winkler, Andrea S.;Friedrich, Katrin;Schmutzhard, Erich
通讯作者：
Schmutzhard, Erich
影响因子：
2.4
作者：
Koenig, Rebekka;Nassri, Amir;Winkler, Andrea Sylvia
通讯作者：
Winkler, Andrea Sylvia