Aicardi's syndrome in a female infant with a family history of miscarried male siblings.

ABSTRACT

Aicardi's syndrome is thought to be an X-linked genetic disease, although the mechanism for transmission remains uncertain. We report on a four-month-old female patient with Aicardi's syndrome. She was born prematurely at 28 weeks' gestation, weighing 1,500 g. Asymmetric myoclonic jerks developed at one month of age. Her left eye showed chorioretinal lacunae and a coloboma on the optic disc, while the right eye was microphthalmic with total retinal detachment. A CT scan disclosed heterotopia and dysgenesis of the corpus callosum. Abnormal development of the thoracic vertebrae was also evident. The most remarkable aspect of this case was that the patient's mother had suffered three miscarriages. Two are known to have been male, but the other gender is unknown. This family history may support the theory that there is a factor, lethal for males, involved in the genetic transmission of Aicardi's syndrome.