Medical Research Unit in Reproductive Medicine, Unidad Médica de Alta Especialidad, Hospital de Gineco Obstetricia No. 4, "Luis Castelazo Ayala", Instituto Mexicano del Seguro Social, Río Magdalena 289, Level 6, Laboratory K, Colonia Tizapan San Ángel, Alcaldía Álvaro Obregón, C.P. 01090, Mexico City, Mexico.
Neonatal Intensive Care Unit, Unidad Médica de Alta Especialidad, Hospital de Gineco Obstetricia No. 4, "Luis Castelazo Ayala", Instituto Mexicano del Seguro Social, Río Magdalena 289, Mezzanine, Colonia Tizapan San Ángel, Alcaldía Álvaro Obregón, C.P. 01090, Mexico City, Mexico.
Pediatr Neonatol. 2021 Jul;62(4):354-360. doi: 10.1016/j.pedneo.2021.05.008. Epub 2021 May 25.
Microcephaly is defined by an occipital-frontal head circumference (OFD) 2 standard deviations (SD) smaller than the average expected for age, gender and population. Its incidence has been reported between 1.3 and 150 cases per 100,000 births. Currently, new clinical characteristics, causes and pathophysiological mechanisms related to microcephaly continue to be identified. Its etiology is varied and heterogeneous, with genetic and non-genetic factors that produce alterations in differentiation, proliferation, migration, repair of damage to deoxyribonucleic acid and neuronal apoptosis. It requires a multidisciplinary diagnostic approach that includes a medical history, detailed prenatal and postnatal clinical evaluation, cerebral magnetic resonance imaging, neuropsychological evaluation, and in some cases complementary tests such as metabolic screening, tests to rule out infectious processes and genetic testing. There is no specific treatment or intervention to increase cerebral growth; however, timely intervention strategies and programs can be established to improve motor and neurocognitive development, as well as to provide genetic counseling. The objective of this work is to review the available information and reinforce the proposal to carry out an etiopathogenic approach for microcephaly diagnosis and management.
小头症的定义是头围(OFD)小于平均预期年龄、性别和人群的 2 个标准差。其发病率报告为每 10 万例活产中有 1.3 至 150 例。目前,与小头症相关的新临床特征、病因和病理生理机制仍在不断被发现。其病因多种多样,具有遗传和非遗传因素,可导致脱氧核糖核酸分化、增殖、迁移、损伤修复和神经元凋亡的改变。这需要一种多学科的诊断方法,包括病史、详细的产前和产后临床评估、脑磁共振成像、神经心理学评估,在某些情况下还需要进行补充测试,如代谢筛查、排除感染过程的测试和基因测试。目前尚无增加大脑生长的特定治疗或干预措施;然而,可以制定及时的干预策略和方案,以改善运动和神经认知发育,并提供遗传咨询。这项工作的目的是回顾现有的信息,并加强提出对小头症进行病因学诊断和管理的建议。