Constad W H, Wagner R S, Caputo A R
Pediatrics. 1985 Sep;76(3):450-3.
The Aicardi syndrome consists of infantile spasms, defects of the corpus callosum, dorsal vertebral anomalies, and chorioretinal lacunar defects. The etiology is, as yet, unknown. The most likely cause, however, is an X-linked mutational event that is lethal in males. The first case of the Aicardi syndrome known to occur in one twin is reported. The patient was female and her unaffected sibling was male. This provides strong evidence to support the theory of an X-linked mutational event as the cause of this condition. The typical chorioretinal defects, often difficult to document because these children die at an early age, are clearly illustrated in this report.
艾卡迪综合征包括婴儿痉挛、胼胝体发育不全、脊椎背侧异常以及脉络膜视网膜腔隙性缺损。其病因至今尚不明确。然而，最可能的病因是一种X连锁突变事件，该事件对男性具有致死性。本文报告了首例已知发生在双胞胎中的艾卡迪综合征病例。患者为女性，其未受影响的同胞为男性。这为支持X连锁突变事件是该病病因的理论提供了有力证据。典型的脉络膜视网膜缺损在本报告中得到了清晰展示，由于这些患儿早夭，此类缺损往往难以记录。
