Cao A, Cianchetti C, Signorini E, Loi M, Sanna G, De Virgiliis S
Clin Genet. 1977 Nov;12(5):290-6. doi: 10.1111/j.1399-0004.1977.tb00943.x.
A sibship consisting of three siblings, one male and two females with unrelated parents, showed a clinical syndrome including: infantile spasms with hypsarrhythmia, microcephaly, severe mental retardation and spastic quadriplegia. The pneumoencephalogram performed in two sibs showed agenesis of the corpus callosum and aqueductal stenosis with tri-ventricular dilatation. The disorder did not show a progressive course with deterioration of mental and neurologic functions. No biochemical or cytogenetic defect could be identified. Complement fixation for cytomegalovirus was negative. This syndrome complex is probably inherited as an autosomal recessive trait. The clinical and the genetic aspects of the syndrome are discussed.
一个由三个兄弟姐妹组成的家庭，其中一个男性和两个女性，父母无血缘关系，表现出一种临床综合征，包括：伴有高峰节律紊乱的婴儿痉挛症、小头畸形、严重智力发育迟缓及痉挛性四肢瘫。对两个兄弟姐妹进行的气脑造影显示胼胝体发育不全和导水管狭窄伴三脑室扩张。该疾病未表现出精神和神经功能恶化的进行性病程。未发现生化或细胞遗传学缺陷。巨细胞病毒补体结合试验为阴性。这种综合征复合体可能作为常染色体隐性性状遗传。讨论了该综合征的临床和遗传方面。
