Case report: Lingering post-concussive symptoms in a pediatric patient with presumed Ehlers-Danlos syndrome.
Case report: Lingering post-concussive symptoms in a pediatric patient with presumed Ehlers-Danlos syndrome.
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DOI：
10.3389/fped.2022.937223
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发表时间：
2022
影响因子：
2.6
通讯作者：
Rastogi, Reena Gogia
中科院分区：
文献类型：
--
作者：
Curry, Tala Maris;Esfandiarei, Mitra;Thomas, Theresa Currier;Rastogi, Reena Gogia
埃勒斯-当洛斯综合征 (EDS) 等结缔组织疾病会影响胶原蛋白和弹性蛋白的含量和结构，包括组织和脉管系统的削弱，从而导致多种全身表现。先前的研究已成功地集中于威胁生命的外周表现，从而延长了预期寿命，但临床观察表明有必要对神经系统脆弱性进行调查，而对此知之甚少。脑组织和脑血管系统受损可能使这些患者容易遭受轻度创伤性脑损伤 (TBI)，脑震荡后症状的严重程度和持续时间会增加，并且恢复会延迟。成人临床报告表明，轻度 TBI 后出现的更严重的症状（例如脑震荡）可以揭示结缔组织疾病，从而导致诊断。本临床病例报告是一名疑似患有 Ehlers-Danlos 综合征的儿科患者的一个例子，该患者表现出更容易患轻度 TBI/脑震荡。一名儿科女性患者在轻度脑震荡后 6 个多月内出现无法解释的挥之不去的脑震荡后症状，包括睡眠困难、恶心、额头头痛、头晕、视力变化、疲劳和左侧无力。患者过度活动、关节紊乱、软组织活动和瘀伤的病史提示埃勒斯-当洛斯综合征的潜在诊断，这可以解释症状的严重程度和恢复时间。该病例是第一个有记录的疑似埃勒斯-当洛斯综合征儿科患者更容易遭受创伤性脑损伤的病例。它强调了对这一脆弱患者群体的伤害认识和预防的必要性，建议更有针对性的康复治疗干预，并表明需要进行临床前研究来评估与结缔组织疾病相关的基因突变对中枢神经系统的影响。
Connective tissue disorders such as Ehlers-Danlos Syndrome (EDS) can affect collagen and elastin content and structure, including weakening of tissues and vasculature, thus contributing to multiple systemic manifestations. Prior research has successfully focused on peripheral life-threatening manifestations resulting in increased life expectancy, yet clinical observations have warranted investigation of neurological vulnerability, where little is known. Compromised brain tissues and cerebrovasculature could leave these patients vulnerable to mild traumatic brain injury (TBI), with increased severity and duration of post-concussive symptoms and delayed recovery. Clinical reports in adults indicate that higher severity of symptoms after a mild TBI, such as a concussion, can unmask connective tissues disorders leading toward diagnosis. This clinical case report is an example of a pediatric patient with presumed Ehlers-Danlos syndrome who demonstrates increased vulnerability to mild TBI/concussion. A pediatric female patient presents with unexplained lingering post-concussive symptoms, including trouble sleeping, nausea, frontal headaches, dizziness, visual changes, fatigue, and left-sided weakness more than 6 months post-mild concussion. Patient history of hypermobility, joint derangement, soft tissue mobility, and bruising suggests a potential diagnosis of Ehlers-Danlos syndrome, which may explain symptom severity and length of recovery. This case is the first documented instance of increased vulnerability to TBI in a pediatric patient with presumed Ehlers-Danlos syndrome. It highlights the need for awareness and prevention of injury in this vulnerable patient population, suggests more targeted therapeutic intervention for recovery, and demonstrates the need for preclinical research evaluating the influence of genetic mutations associated with connective tissue disorders on the central nervous system.
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DOI：
10.1097/htr.0000000000000190
发表时间：
2016-09
期刊：
The Journal of head trauma rehabilitation
影响因子：
--
作者：
Albrecht JS;Hirshon JM;McCunn M;Bechtold KT;Rao V;Simoni-Wastila L;Smith GS
通讯作者：
Smith GS
影响因子：
3.7
作者：
Hamonet C;Frédy D;Lefèvre JH;Bourgeois-Gironde S;Zeitoun JD
通讯作者：
Zeitoun JD
影响因子：
3.9
作者：
Singman E
通讯作者：
Singman E
影响因子：
4.2
作者：
Stocchetti, Nino;Paterno, Rosalia;Colombo, Angelo
通讯作者：
Colombo, Angelo
影响因子：
1.6
作者：
Lefevre-Dognin, C.;Cogne, M.;Azouvi, P.
通讯作者：
Azouvi, P.