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Malformations of the Spinal Cord: From Genetics to Diagnosis and Rehabilitation 脊髓畸形:从遗传到诊断与康复
IF 0.2 Q4 PEDIATRICS Pub Date : 2024-08-09 DOI: 10.1055/s-0044-1788648
Giovanni Cacciaguerra, Federica Dierna, Antonio Zanghì, Michele Vecchio, E. Praticò, Giuliana La Rosa, Stefano Palmucci, Giuseppe Belfiore, Antonio Basile, Martino Ruggieri, A. Polizzi
Spinal cord malformations, known as “spinal dysraphisms” encompass a diverse range of spinal abnormalities characterized by incomplete median closure of mesenchymal, bone, and nervous tissues. They are classified as “open,” involving both the spinal cord and overlying tissues, or “occult,” affecting only nervous system structures. Neurulation abnormalities along the neural tube, from the rostral to the caudal portions, primarily cause these malformations. Clinical presentations vary, including cutaneous manifestations like hemangiomas, dimples, hair tufts, and scoliosis. “Tethered cord syndrome,” often associated with these malformations, manifests as a clinical syndrome rather than a primary anomaly. Newborns are typically asymptomatic, with malformations often identified by associated skin abnormalities. Older children may experience pain, sensory/motor disturbances, urinary/anal sphincter abnormalities, and muscle weakness affecting mobility. Neuroimaging, crucial for diagnosis and treatment planning, includes ultrasound, CT, and MRI. Surgical intervention, tailored to specific malformation subtypes, may involve the repair of myelomeningocele soon after birth or conservative management for asymptomatic occult dysraphism. Rehabilitation encompasses physical, occupational, recreational, and speech therapies. Prevention is paramount, emphasizing the role of health care professionals in prenatal care and education. This review aims to provide a systematic classification of spinal cord malformations to aid clinicians in diagnosis and management.
脊髓畸形被称为 "脊柱发育不良",包括各种脊柱畸形,其特点是间质、骨骼和神经组织的中线闭合不全。脊柱畸形分为 "开放性 "和 "隐匿性 "两种,前者涉及脊髓和上覆组织,后者仅影响神经系统结构。从喙部到尾部的神经管神经发育异常是导致这些畸形的主要原因。临床表现各不相同,包括血管瘤、酒窝、毛发丛和脊柱侧弯等皮肤表现。"脐带拴系综合征 "通常与这些畸形有关,表现为一种临床综合征,而非原发性异常。新生儿通常没有症状,畸形通常通过相关的皮肤异常来识别。年龄较大的儿童可能会出现疼痛、感觉/运动障碍、泌尿/肛门括约肌异常以及影响活动的肌肉无力。神经影像学检查对诊断和治疗计划至关重要,包括超声波、CT 和核磁共振成像。手术治疗针对特定的畸形亚型,可能包括在婴儿出生后不久对脊髓空洞症进行修复,或对无症状的隐性脊柱发育不良进行保守治疗。康复治疗包括物理、职业、娱乐和语言疗法。预防是最重要的,强调医护人员在产前护理和教育中的作用。本综述旨在提供脊髓畸形的系统分类,以帮助临床医生进行诊断和管理。
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引用次数: 0
Anterior Cutaneous Neurectomy—Child's Play? 前皮肤神经切除术--儿戏?
IF 0.2 Q4 PEDIATRICS Pub Date : 2024-08-09 DOI: 10.1055/s-0044-1788341
Srivatsan Thirumalai Vasu, Sudish Karunakaran, Gangadharan V. P., Arun Oommen, Ajay Kumar Ajanvi, Anil Chiluka, Govind Gangadharan, Renu Paul
Chronic abdominal pain (CAP) is a common entity in the pediatric population and has an extensive differential diagnosis. Anterior cutaneous nerve entrapment syndrome (ACNES) is an etiology that is not often diagnosed and requires an individualized approach. Treatment options for ACNES include nonsurgical and surgical, often a graded approach is used. A 12-year-old boy presented with CAP, and was extensively evaluated as well as underwent multiple abdominal surgeries. He was eventually diagnosed with ACNES and underwent a trial conservative management. Although he initially showed improvement, his pain returned. He later underwent a neurectomy procedure with significant postoperative relief. The patient experienced significant relief postprocedure. He experienced up to 70% relief in pain in the immediate postoperative period and at the end of 3 months, pain was completely absent. The patient was able to return to all his activities including active sports. The diagnosis and management of ACNES is a challenging condition, but this report seeks to highlight its importance as an unusual cause. Literature on the management of this condition is scarce, making it difficult to make informed decisions. Surgical neurectomy is seen as a favored procedure for children with moderate-good pain relief, especially for those who do not respond satisfactorily to local blocks.
慢性腹痛(CAP)是儿科常见病,其鉴别诊断范围很广。前皮神经卡压综合征(ACNES)的病因并不常见,需要个体化治疗。ACNES 的治疗方法包括非手术和手术,通常采用分级治疗。一名 12 岁男孩出现了 CAP,并接受了广泛的评估和多次腹部手术。他最终被诊断为 ACNES,并接受了保守治疗试验。虽然他的病情起初有所好转,但疼痛再次复发。后来,他接受了神经切除术,术后疼痛明显缓解。患者术后疼痛明显缓解。术后初期疼痛缓解达 70%,3 个月后疼痛完全消失。患者能够恢复所有活动,包括积极参加体育运动。ACNES 的诊断和治疗是一种具有挑战性的疾病,但本报告旨在强调其作为一种非正常病因的重要性。有关该病症治疗的文献很少,因此很难做出明智的决定。对于中度疼痛缓解的患儿,尤其是那些对局部阻滞反应不佳的患儿,手术神经切除术是首选的治疗方法。
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引用次数: 0
Comparison Efficacy of Phenobarbital versus Levetiracetam in Acute Neonatal Seizures: A Randomized Control Trial 苯巴比妥与左乙拉西坦对新生儿急性癫痫发作的疗效比较:随机对照试验
IF 0.2 Q4 PEDIATRICS Pub Date : 2024-07-10 DOI: 10.1055/s-0044-1788054
Alireza Saadati, Narges Kalhor, Sara Afshari, Masoud Hassanvand Amouzadeh, Mansoreh Saffari, Mohsen Mollamohamadi
Seizures in infancy are one of the main manifestations of disorders in the central nervous system that can have important etiologies. The development of anticonvulsant drugs and the importance of drug selection in infants, due to more complex underlying etiologies, compared with older ages, explicate the essentiality of executing clinical investigations to appraise the optimal therapeutic approach. The objective of the current investigation is to juxtapose two therapeutic approaches involving intravenous levetiracetam and intravenous phenobarbital in the management of neonatal seizures. This is a randomized controlled clinical trial study on 100 infants who were referred to the Hazrat Masoumeh (S) Hospital in Qom owing to convulsions. Infants with seizure who fulfilled the inclusion criteria were arbitrarily allocated to one of the two intervention cohorts: intravenous levetiracetam or intravenous phenobarbital, and therapeutic responses were compared. There was a substantial relationship between seizure time, seizure etiology, anticonvulsant therapy type, and treatment responsiveness. As a result, the risks of not responding to therapy and increasing the dose were approximately 6 and 5 times higher, respectively, in the group that experienced seizures in the fourth week than in the other groups. Infants with cerebrovascular anomalies were more prone to not responding to treatment. Furthermore, children administered phenobarbital had a 2.5-fold higher chance of not responding to treatment than those given levetiracetam (p = 0.043).
婴儿期癫痫发作是中枢神经系统紊乱的主要表现之一,其病因可能十分复杂。随着抗惊厥药物的发展,以及与年龄较大的患者相比,由于潜在病因更为复杂,婴儿药物选择的重要性日益凸显,因此,开展临床研究以评估最佳治疗方法至关重要。本次研究的目的是将静脉注射左乙拉西坦和静脉注射苯巴比妥两种治疗方法并列用于新生儿癫痫发作的治疗。这是一项随机对照临床试验研究,研究对象是因抽搐而转诊到库姆 Hazrat Masoumeh (S) 医院的 100 名婴儿。符合纳入标准的癫痫发作婴儿被任意分配到两个干预组中的一个:静脉注射左乙拉西坦或静脉注射苯巴比妥,并对治疗反应进行比较。癫痫发作时间、癫痫发作病因、抗惊厥治疗类型和治疗反应之间存在密切关系。因此,在第四周出现癫痫发作的组别中,对治疗无反应和增加剂量的风险分别比其他组别高出约 6 倍和 5 倍。脑血管异常的婴儿更容易对治疗无反应。此外,与服用左乙拉西坦的婴儿相比,服用苯巴比妥的婴儿对治疗无反应的几率要高出2.5倍(p = 0.043)。
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引用次数: 0
A Middle-Aged Patient Living with HIV (PLHIV), Presented with Persistent Hiccups, Imbalance, and Multifocal Myoclonus Secondary to Disseminated Tuberculosis 一名中年艾滋病病毒感染者(PLHIV)因继发于播散性肺结核而出现持续性呃逆、失衡和多灶性肌阵挛
IF 0.2 Q4 PEDIATRICS Pub Date : 2024-07-10 DOI: 10.1055/s-0044-1782542
T. Vidhale, Rohan Prafulla Jaya, Minal Pande, Mohammad Arfat Ganiyani
A middle aged male presented with chronic diarrhoea, persistent hiccups and unsteadiness while walking. His illness had subacute onset and progressive course. Clinically patient had cachexia, pallor, oral thrush and hepatosplenomegaly. On neurological examination, he had fine tremors, gait ataxia, and multifocal myoclonus. Investigations revealed normochromic normocytic anemia, transaminitis, hyponatremia and cerebrospinal fluid pleocytosis(lymphocytic predominance). Brain MRI revealed diffuse patchy meningeal enhancement; CECT abdomen showed circumferential bowel wall thickening, hepatosplenomegaly and necrotic lymphadenopathy. CECT chest exhibited mediastinal lymphadenopathy alongwith centrilobular nodular opacities. Sputum GeneXpert® was positive for mycobacterium tuberculosis with sensitivity to rifampicin. His serology for human immunodeficiency virus was positive. He was diagnosed as disseminated tuberculosis with tuberculer meningitis which caused persistent hiccups, gait abnormaliy and multifocal myoclonus. His symptom resolved with anti tubercular therapy. We aim to highlight here that myoclonus is a rare occurrence with tubercular meningitis.
一名中年男性因慢性腹泻、持续打嗝和走路不稳前来就诊。患者亚急性起病,病程呈进行性发展。临床表现为恶病质、面色苍白、口腔鹅口疮和肝脾肿大。在神经系统检查中,他有细震颤、步态共济失调和多灶性肌阵挛。检查结果显示正常色素性正红细胞性贫血、转氨酶升高、低钠血症和脑脊液多细胞增多(淋巴细胞占优势)。脑部磁共振成像显示弥漫性斑片状脑膜强化;腹部CECT显示肠壁周缘增厚、肝脾肿大和坏死性淋巴结病。胸部CECT显示纵隔淋巴结病变和中心叶结节性不透明。痰基因Xpert®呈结核分枝杆菌阳性,对利福平敏感。他的人类免疫缺陷病毒血清学检测呈阳性。他被诊断为播散性结核并发结核性脑膜炎,导致持续性打嗝、步态异常和多灶性肌阵挛。经过抗结核治疗后,他的症状得到缓解。我们在此强调,肌阵挛是结核性脑膜炎的一种罕见症状。
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引用次数: 0
Spontaneous Simultaneous Bilateral Intraparenchymal Hemorrhage in a Child with Sickle Cell Disease 镰状细胞病患儿自发性同时双侧胸膜内出血
IF 0.2 Q4 PEDIATRICS Pub Date : 2024-07-04 DOI: 10.1055/s-0044-1787854
Adelaide Valluzzi, Julian S. Rechberger, Elena Millesi, Corrado Iaccarino, Lucio Lucchesi, Giovanni Palazzi, Francesca Cavalleri, Giacomo Pavesi
Sicklecelldisease(SCD)isthemostcommontypeofhereditary anemia with a particularly high prevalence in sub-Saharan Africa. More than 230,000 children are affected in this geo-graphicalregioneveryyear,makingup80%oftheglobaltotal. 1 SCD is characterized by the abnormal polymerization of the β - globinprotein, resulting in obstructiontothemicrocirculation and tissue hypoxia. Cerebral hemorrhage is quite uncommon, with an incidence ranging from 0.5 to 2%. Cerebrovascular complications contribute signi fi cantly to the morbidity and mortality of the disease. 2 – 4 Variable risk factors include acute hypertension, blood transfusion, use of steroids
镰状细胞性贫血(SCD)是一种最常见的遗传性贫血,在撒哈拉以南非洲地区发病率特别高。在这一地理区域,每年有超过 230,000 名儿童患病,占全球患病儿童总数的 80%。1 SCD 的特点是 β - 球蛋白异常聚合,导致微循环受阻和组织缺氧。脑出血并不常见,发生率为 0.5%至 2%。脑血管并发症大大增加了该病的发病率和死亡率。2 - 4 可变的风险因素包括急性高血压、输血、使用类固醇类药物等。
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引用次数: 0
Paroxysmal Kinesigenic Dyskinesia Secondary to Novel Variant in PRRT2: A Case Report 继发于 PRRT2 新型变异的阵发性运动障碍:病例报告
IF 0.2 Q4 Medicine Pub Date : 2024-06-03 DOI: 10.1055/s-0044-1787193
J. M. Altamirano, Eduardo López-Ortiz, Armando Armas-Salazar, Karla Salinas-Barboza
Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by frequent, brief episodes of choreiform or dystonic movements, often triggered by voluntary movement or a startle sensation. Here, we report a case of PKD associated with a novel variant in PRRT2 gene. A 19-year-old male with no medical history presented with hyperkinetic movement disorder symptoms consistent with PKD. Clinical evaluation, laboratory studies, and genetic testing were performed to confirm the diagnosis. Treatment with carbamazepine was initiated, and the patient's response was monitored over a 9-month period. The patient exhibited classic clinical criteria for PKD, including brief episode duration, an identified kinesigenic trigger, and responsiveness to pharmacological treatment. Genetic testing revealed a pathogenic variant in PRRT2 gene not previously reported in association with PKD. Treatment with carbamazepine led to complete resolution of symptoms, with sustained improvement observed during follow-up. This case highlights the importance of considering PKD in the differential diagnosis of hyperkinetic movement disorders and emphasizes the role of genetic testing in confirming the diagnosis. Furthermore, it underscores the efficacy of carbamazepine in managing PKD symptoms associated with PRRT2 gene. Further research is warranted to elucidate the underlying pathophysiological mechanisms and optimize treatment strategies for PKD.
阵发性运动障碍(PKD)是一种运动障碍疾病,其特征是频繁、短暂地发作舞蹈样或肌张力障碍性运动,通常由自主运动或惊吓感引发。在此,我们报告了一例与 PRRT2 基因新型变异相关的 PKD 病例。一名无病史的 19 岁男性出现了与 PKD 一致的过度运动障碍症状。经过临床评估、实验室研究和基因检测后确诊。患者开始接受卡马西平治疗,并在9个月的时间里观察其反应。患者表现出了典型的 PKD 临床标准,包括短暂的发作持续时间、确定的运动诱因以及对药物治疗的反应。基因检测发现了 PRRT2 基因中的一个致病变体,而这一变体以前从未报道过与 PKD 有关。接受卡马西平治疗后,患者症状完全缓解,随访期间病情持续好转。该病例强调了在运动功能亢进症的鉴别诊断中考虑 PKD 的重要性,并强调了基因检测在确诊中的作用。此外,该病例还强调了卡马西平在控制与 PRRT2 基因相关的 PKD 症状方面的疗效。为阐明PKD的潜在病理生理机制并优化治疗策略,我们有必要开展进一步的研究。
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引用次数: 0
Clinical Response of Levodopa in CTNNB1-Related Dystonia 左旋多巴对 CTNNB1 相关肌张力障碍的临床反应
IF 0.2 Q4 Medicine Pub Date : 2024-06-03 DOI: 10.1055/s-0044-1787194
A. Revert Barberà, Loreto Martorell, Cristina Boix, Judith Armstrong, Laura Carrera, Andrés Nascimento, J. Ortigoza-Escobar
β-catenin, which is encoded by the CTNNB1 gene, is essential for the development and functioning of the brain. There are a few documented cases of dystonia related to CTNNB1. Here, we report the case of an 11-year-old Spanish boy referred for movement disorders and gait disturbance. He had motor developmental delay and achieved unassisted walking at 3 years, with a tiptoe gait and valgus foot posture requiring ankle-foot orthoses. Blood tests showed elevated creatine kinase levels (1684 U/L, normal range 62–235). Molecular analysis revealed a deletion in exons 3-9 of the DMD gene, leading to the diagnosis of Becker muscular dystrophy. By age 8, he presents frequent falls due to a dystonic posture of the feet and abnormal movements in the upper and lower limbs. Whole-exome sequencing revealed a novel heterozygous, de novo pathogenic frameshift variant in the CTNNB1 gene (NM_001098209.1):p.Thr297fs/ c.889dupA. Treatment with levodopa/carbidopa (5.3 mg/kg/day) led to a partial clinical improvement, including a decrease in dystonia, measured by the Burke-Fahn-Marsden Dystonia Rating Scale, and choreic movements in all four limbs. We suggest that levodopa contributes to motor improvement in patients with CTNNB1-related dystonia, supporting its inclusion in the differential diagnosis of childhood dopa-responsive dystonia.
由 CTNNB1 基因编码的β-catenin 对大脑的发育和功能至关重要。与 CTNNB1 相关的肌张力障碍病例为数不多。在此,我们报告了一例因运动障碍和步态障碍而转诊的 11 岁西班牙男孩的病例。他运动发育迟缓,3 岁时就能独立行走,但步态踮脚,足外翻,需要踝足矫形器。血液检查显示肌酸激酶水平升高(1684 U/L,正常范围为62-235)。分子分析显示,他的DMD基因第3-9外显子缺失,因此被诊断为贝克型肌营养不良症。8 岁时,他因双脚肌张力障碍和上下肢运动异常而频繁跌倒。全外显子组测序发现,CTNNB1基因(NM_001098209.1)中存在一个新的杂合、从头开始的致病性框架转换变异:p.Thr297fs/ c.889dupA。使用左旋多巴/卡比多巴(5.3 毫克/千克/天)治疗后,患者的临床症状得到了部分改善,包括肌张力障碍(根据伯克-法恩-马斯登肌张力障碍评分量表进行测量)和四肢肢体惰性运动的减少。我们认为,左旋多巴有助于CTNNB1相关肌张力障碍患者的运动改善,支持将其纳入儿童多巴反应性肌张力障碍的鉴别诊断中。
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引用次数: 0
At the Origin of Brain Malformations: Embryology of the Central and Peripheral Nervous System 脑畸形的起源:中枢神经和周围神经系统胚胎学
IF 0.2 Q4 Medicine Pub Date : 2024-05-13 DOI: 10.1055/s-0044-1786777
Paola Cavallaro, Michela Leotta, Daria La Cognata, Federica Dierna, Valeria Fichera, Michele Vecchio, Agata Polizzi, A. Praticò, P. Castrogiovanni, Giuseppe Musumeci, Michelino Di Rosa, Rossella Imbesi
Development of the central nervous system is a time-ordered and multistepped process that begins in the third week of development and continues after birth. Understanding of its normal embryologic development is fundamental to understand how specific malformations develop. This article provides a summary of human brain development and serves as a base to introduce the various malformations presented in this issue.
中枢神经系统的发育是一个有时间顺序和多步骤的过程,从发育的第三周开始,一直持续到出生后。了解中枢神经系统的正常胚胎发育是了解特定畸形如何发生的基础。本文概述了人类大脑的发育过程,并以此为基础介绍了本期介绍的各种畸形。
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引用次数: 0
Cerebral Malformations Related to Coronavirus Disease 2019 during Pregnancy 与妊娠期冠状病毒疾病有关的脑畸形 2019 年
IF 0.2 Q4 Medicine Pub Date : 2024-05-13 DOI: 10.1055/s-0044-1786785
S. Presti, Federica Dierna, Antonio Zanghì, Michele Vecchio, Salvatore Lavalle, E. Praticò, Martino Ruggieri, A. Polizzi
The pandemic of severe-acute-respiratory-syndrome-related coronavirus (SARS-Cov-2) has shown a wide spectrum of possible consequences in children, ranging from asymptomatic patients to the development of severe conditions, such as multisystem inflammatory syndrome in children and encephalopathies related to cytokine storm. Specifically, neurological and neuroimaging abnormalities, ranging from mild-to-the severe ones, have been documented in children as well, such as postinfectious immune-mediated acute disseminated encephalomyelitis, myelitis, neural enhancement, cranial nerve enhancement, and cortical injury, also without neurological symptoms. Considering the neurotropism of coronaviruses and SARS-Cov-2, which has been well described in the literature, we reviewed the literature reporting possible cerebral malformation in neonates due to the infection of SARS-Cov-2 in pregnancy. Coronavirus disease 2019 (COVID-19) during pregnancy might develop cerebral disorders in several ways. Articles in English in the literature were screened using the following search terms: (1) “brain malformations” AND “COVID-19”; (2) “cerebral malformations” AND “COVID-19”; (3) brain malformations AND “Sars-Cov-2”; (4) “cerebral malformations “AND “Sars-Cov-2.” Considering the congenital brain malformation found in newborns exposed to infection of SARS-Cov-2 pre- or neonatally, we identified one paper which reported three neonates with cerebral malformation. Although sporadic, cerebral malformations like atypical signals in white matter with delayed myelination, brain dysplasia/hypoplasia with delayed myelination, and unusual signals in the periventricular regions have been documented.
严重急性呼吸系统综合征相关冠状病毒(SARS-Cov-2)的大流行对儿童可能造成的后果范围很广,从无症状的患者到发展成严重病症,如儿童多系统炎症综合征和与细胞因子风暴相关的脑病。具体来说,儿童也有神经系统和神经影像学异常(从轻微到严重)的记录,如感染后免疫介导的急性播散性脑脊髓炎、脊髓炎、神经强化、颅神经强化和皮质损伤,但也没有神经系统症状。考虑到冠状病毒和SARS-Cov-2的神经侵袭性(文献中已有详细描述),我们回顾了报道妊娠期感染SARS-Cov-2可能导致新生儿脑畸形的文献。妊娠期冠状病毒病2019(COVID-19)可能以多种方式导致脑部疾病。使用以下检索词筛选文献中的英文文章:(1)"脑畸形 "和 "COVID-19";(2)"脑畸形 "和 "COVID-19";(3)脑畸形和 "Sars-Cov-2";(4)"脑畸形 "和 "Sars-Cov-2"。考虑到在感染 SARS-Cov-2 前或新生儿中发现的先天性脑畸形,我们发现一篇论文报道了三名患有脑畸形的新生儿。虽然这些脑畸形是散发性的,但也有记录显示,白质中的非典型信号伴有髓鞘化延迟、脑发育不良/发育不全伴有髓鞘化延迟,以及脑室周围区域的异常信号。
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引用次数: 0
Schizencephaly: Etiopathogenesis, Classification, Therapeutic, and Rehabilitative Approach 精神分裂症:发病机制、分类、治疗和康复方法
IF 0.2 Q4 Medicine Pub Date : 2024-05-11 DOI: 10.1055/s-0044-1786793
Monica Tosto, Valeria Fichera, Antonio Zanghì, A. Praticò, Michele Vecchio, Stefano Palmucci, Giuseppe Belfiore, Pietro Foti, Claudia Di Napoli, A. Polizzi
Schizencephaly is an uncommon anomaly in neuronal migration characterized by complete clefts that extend from the pia mater to the ependymal surface of the ventricular system. These clefts are encompassed by displaced gray matter and filled with cerebrospinal fluid. Typically, they are found most often in the frontal lobe or the area around the lateral sulcus and can occur on one or both sides. The size, location, and type of these clefts carry significant clinical and prognostic implications. Moreover, they are frequently associated with other central nervous system malformations, including the absence of the septum pellucidum, septo-optic dysplasia, optic nerve hypoplasia, pachygyria, polymicrogyria, cortical dysplasia, heterotopia, and dysplasia of the corpus callosum. Occurrence of schizencephaly is almost always sporadic but its etiopathogenesis is yet to be fully understood. Most likely environmental factors, including exposure to teratogens, viral infections, and maternal factors, operate jointly with genetic defects. To date COL4A1, EMX2, SHH, and SIX3 are the genes identified as possible pathogenetic target. It is interesting to notice that schizencephaly is commonly seen in abandoned or adopted children, as proof of causative effect of intrautero insults. Clinical presentations widely vary and symptoms include a spectrum of cognitive impairment, limb paresis/tetraparesis, and epileptic seizures either with early or late onset; anyway, none of these symptoms is ever-present and patients with schizencephaly can also have normal neurocognitive and motor development. Diagnostic gold standard for schizencephaly is magnetic resonance imaging, which allows to identify and characterize typical clefts. Treatment of schizencephaly is symptomatic and supportive and depends on the severity of morbidity resulting from the malformation. Therapy includes antiepileptic drugs, psychomotor rehabilitation, and in selected cases surgical approach.
分裂畸形是一种不常见的神经元迁移异常,其特征是从桥脑延伸到脑室系统外膜表面的完全裂隙。这些裂隙被移位的灰质包裹,并充满脑脊液。通常,它们多见于额叶或外侧沟周围区域,可发生在一侧或两侧。这些裂隙的大小、位置和类型对临床和预后有重要影响。此外,这些裂隙还经常与其他中枢神经系统畸形有关,包括透明隔缺失、透明隔发育不良、视神经发育不良、糙皮症、多小脑症、皮质发育不良、异位症和胼胝体发育不良。精神分裂症几乎总是偶发的,但其发病机制尚未完全明了。环境因素(包括接触致畸剂、病毒感染和母体因素)很可能与遗传缺陷共同起作用。迄今为止,COL4A1、EMX2、SHH 和 SIX3 已被确定为可能的致病靶基因。值得注意的是,精神分裂症常见于被遗弃或被收养的儿童,这也证明了宫内损伤的致病作用。临床表现千差万别,症状包括一系列认知障碍、肢体瘫痪/四肢瘫痪、癫痫发作,有的发病较早,有的发病较晚;但无论如何,这些症状都不是始终存在的,精神分裂症患者也可能有正常的神经认知和运动发育。诊断精神分裂症的金标准是磁共振成像,它可以识别和描述典型的裂隙。精神分裂症的治疗是对症和支持性的,取决于畸形导致的发病率的严重程度。治疗方法包括抗癫痫药物、精神运动康复治疗,在某些情况下还可采取手术治疗。
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引用次数: 0
期刊
Journal of pediatric neurology
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