Riela A R, Thomas I T, Gonzalez A R, Ifft R D
Department of Neurology, University of Texas, Southwestern Medical Center, Dallas 75235-9036, USA.
J Child Neurol. 1995 Mar;10(2):110-3. doi: 10.1177/088307389501000208.
Fryns syndrome, a multiple congenital anomaly syndrome associated with diaphragmatic defects, craniofacial dysmorphism, distal digital hypoplasia, and neurologic abnormalities, was first described in 1979. This autosomal recessive disorder is usually associated with stillbirth or death immediately after birth. Detailed neurologic findings in the third survivor beyond the neonatal period are reported, and neurologic abnormalities in other cases are reviewed. Initially, hypotonia, areflexia, and weakness were seen. Myoclonus developed immediately after birth and was well controlled with high-dose valproate. Electroencephalography revealed slowing and irregular paroxysmal discharges with spikes and sharp waves that disappeared with time and treatment. Magnetic resonance imaging demonstrated partial agenesis of the corpus callosum, a Dandy-Walker malformation, and progressive cerebral and brainstem atrophy. This syndrome should be considered in patients with unusual facial features and digital abnormalities associated with frequent early myoclonus.
弗林斯综合征是一种与膈缺陷、颅面畸形、远端指发育不全和神经异常相关的多发性先天性异常综合征，于1979年首次被描述。这种常染色体隐性疾病通常与死产或出生后立即死亡有关。本文报告了第三例存活至新生儿期后的详细神经学检查结果，并回顾了其他病例的神经异常情况。最初表现为肌张力减退、反射消失和肌无力。出生后立即出现肌阵挛，高剂量丙戊酸盐可有效控制。脑电图显示有慢波和不规则的阵发性放电，并伴有棘波和尖波，随着时间推移和治疗而消失。磁共振成像显示胼胝体部分发育不全、丹迪-沃克畸形以及进行性大脑和脑干萎缩。对于具有异常面部特征和手指异常并伴有频繁早期肌阵挛的患者，应考虑这种综合征。
