A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment.
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment.
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DOI：
10.1097/md.0000000000006814
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发表时间：
2017-06
期刊：
影响因子：
1.6
通讯作者：
Falsaperla R
中科院分区：
文献类型：
--
作者：
Pavone P;Praticò AD;Rizzo R;Corsello G;Ruggieri M;Parano E;Falsaperla R
巨脑畸形和大头畸形的头围测量值比年龄相关平均值高2个标准差。然而，即使导致巨脑畸形和大头畸形的病理事件可能共存，这两种实体之间的区别是适当的，因为它们代表了不同疾病的临床表现，在临床检查，总体预后和治疗中采用了不同的方法。巨脑畸形定义了在神经元增殖和/或迁移阶段的脑发育的各个步骤期间或作为出生后异常事件的结果，与功能障碍异常相关的脑结构的生长增加。与巨脑畸形相关的疾病通常分为3组：特发性或良性，代谢性和解剖性。在这篇文章中，我们试图强调巨脑畸形的临床方面，强调主要的障碍，表现出这种异常，试图正确分类这些疾病内的巨脑畸形组。
Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these two entities is appropriate, as they represent clinical expression of different disorders with a different approach in clinical work-up, overall prognosis, and treatment. Megalencephaly defines an increased growth of cerebral structures related to dysfunctional anomalies during the various steps of brain development in the neuronal proliferation and/or migration phases or as a consequence of postnatal abnormal events. The disorders associated with megalencephaly are classically defined into 3 groups: idiopathic or benign, metabolic, and anatomic. In this article, we seek to underline the clinical aspect of megalencephaly, emphasizing the main disorders that manifest with this anomaly in an attempt to properly categorize these disorders within the megalencephaly group.