Jiménez Erika, García-Cazorla Àngels, Colomer Jaume, Nascimento Andrés, Iriondo Martín, Campistol Jaume
Servicio de Neurología Pediátrica, Hospital Sant Joan de Deu, 08950 Esplugues de Llobregat, Espana.
Rev Neurol. 2013 Jan 16;56(2):72-8.
Hypotonia is one of the most frequent signs of neurological pathology in newborn infants.
To determine, in a 12-year retrospective study, the relative frequency of neurological pathologies that can be accompanied by hypotonia during the neonatal period and to describe the neurological development after two years' follow-up.
We conducted a systematic review of the newborn infants with hypotonia due to an identifiable cause who were admitted to the neonatal unit of the Hospital Sant Joan de Deu between January 1996 and December 2008. Information collected referred to family history, data related with the pregnancy and childbirth, clinical features and complementary tests. RESULTS. A total of 73 hypotonic newborn infants were identified, 21 (28.7%) of whom met eligibility criteria. The majority, 81% (n = 17), were classified as central hypotonias and the remaining 19% (n = 4) were graded as peripheral hypotonias. In the first group, 47% (n = 8) presented chromosomal disorders, 29.4% (n = 5) had metabolic diseases and 23.5% (n = 4) displayed malformations of the central nervous system.
The central causes of hypotonia continue to be the most prevalent in the neonatal period and, within these, chromosomal disorders are the most frequent. Peripheral causes are less common and have a more severe prognosis. Advances in molecular genetics have allowed many neuromuscular diseases to be diagnosed both genetically and at the molecular level. The diversity and complexity of the pathologies justifies a multidisciplinary approach being taken to treat these newborn infants.
肌张力减退是新生儿神经病理学最常见的体征之一。
在一项为期12年的回顾性研究中,确定新生儿期可能伴有肌张力减退的神经病理学的相对频率,并描述两年随访后的神经发育情况。
我们对1996年1月至2008年12月期间因可识别病因入住圣琼德迪乌医院新生儿科的肌张力减退新生儿进行了系统评价。收集的信息涉及家族史、与妊娠和分娩相关的数据、临床特征及辅助检查。结果:共识别出73例肌张力减退新生儿,其中21例(28.7%)符合纳入标准。大多数(81%,n = 17)被归类为中枢性肌张力减退,其余19%(n = 4)为周围性肌张力减退。在第一组中,47%(n = 8)患有染色体疾病,29.4%(n = 5)患有代谢性疾病,23.5%(n = 4)表现为中枢神经系统畸形。
新生儿期肌张力减退的中枢性病因仍然最为普遍,其中染色体疾病最为常见。周围性病因较少见,预后更差。分子遗传学的进展使得许多神经肌肉疾病能够在基因和分子水平上得到诊断。这些疾病的多样性和复杂性证明需要采取多学科方法来治疗这些新生儿。