Kho Nathaniel, Czarnecki Laurence, Kerrigan John F, Coons Stephen
Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix, Arizona, USA.
J Child Neurol. 2002 May;17(5):397-9. doi: 10.1177/088307380201700519.
Pena-Shokier phenotype is an early lethal disorder involving multiple joint contractures, facial anomalies, and pulmonary hypoplasia. Alternative terms for this syndrome used in the literature include fetal hypokinesia syndrome, lethal congenital contracture syndrome, and Pena-Shokier syndrome type I. The etiology for the early cases was attributed to neuromuscular disease, with deformations owing to weakness or paralysis of the motor unit. An abnormality of spinal cord motoneurons has been postulated in some cases. Pena-Shokier phenotype can also result from blockade of the neuromuscular junction, as shown by recent observations with women expressing antibodies against the fetal acetylcholine receptor. It has been shown that the Pena-Shokier phenotype may result from intrauterine cerebral dysfunction as well, including acquired brain insults and congenital brain malformations. The ultimate prognosis for children with this disorder is dependent on the underlying etiology and the severity of pulmonary disease. The authors report a fatal case of Pena-Shokier phenotype with congenital polymicrogyria. To our knowledge, the case presented is the first reported Pena-Shokier phenotype associated with this type of brain malformation.
佩纳-肖基尔表型是一种早期致死性疾病，涉及多个关节挛缩、面部畸形和肺发育不全。文献中用于该综合征的其他术语包括胎儿运动减少综合征、致死性先天性挛缩综合征和I型佩纳-肖基尔综合征。早期病例的病因归因于神经肌肉疾病，畸形是由于运动单位的无力或麻痹所致。在某些病例中推测存在脊髓运动神经元异常。佩纳-肖基尔表型也可能由神经肌肉接头阻滞引起，如近期对表达抗胎儿乙酰胆碱受体抗体的女性的观察所示。研究表明，佩纳-肖基尔表型也可能由宫内脑功能障碍导致，包括获得性脑损伤和先天性脑畸形。患有这种疾病的儿童的最终预后取决于潜在病因和肺部疾病的严重程度。作者报告了一例伴有先天性多小脑回的佩纳-肖基尔表型致死病例。据我们所知，所呈现的病例是首例报道的与这种类型脑畸形相关的佩纳-肖基尔表型。
