Pavone Piero, Praticò Andrea Domenico, Rizzo Renata, Corsello Giovanni, Ruggieri Martino, Parano Enrico, Falsaperla Raffaele
University-Hospital "Policlinico-Vittorio Emanuele" Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK Department of Maternal and Child Health, University of Palermo, Palermo National Research Council, Section of Catania, Catania, Italy.
Medicine (Baltimore). 2017 Jun;96(26):e6814. doi: 10.1097/MD.0000000000006814.
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.
巨脑症和巨头症表现为头围测量值高于年龄相关均值2个标准差。然而，即使导致巨脑症和巨头症的病理事件可能同时存在，但区分这两种情况是合适的，因为它们代表了不同疾病的临床表现，在临床检查、总体预后和治疗方面有着不同的处理方法。巨脑症定义为在神经元增殖和/或迁移阶段的脑发育各个步骤中，由于功能异常异常导致的脑结构生长增加，或者是出生后异常事件的结果。与巨脑症相关的疾病经典地分为3组：特发性或良性、代谢性和解剖性。在本文中，我们试图强调巨脑症的临床方面，着重介绍以这种异常表现的主要疾病，以便在巨脑症组内对这些疾病进行恰当分类。
