The aicardi syndrome: Report of 4 cases and review of the literature

Abstract

The findings i n 4 cases of A i c a r d i s y n d r o m e (female infants w i t h mental retardation, seizures, characteristic e y e lesions, agenesis o f the c o r p u s callosum, vertebral anomalies. and a b n o r m a l b u t nondiagnostic electroencephalog r a p h i c patterns) are c o m p a r e d to 39 previously reported cases. Available information suggests that t h e s y n d r o m e results f r o m an u n k n o w n i n t r a u t e r i n e insult o c c u r r i n g no later t h a n the first trimester. No familial cases have been reported, and the cause remains u n k n o w n . Case Reports Patierit 1An infant girl was the product of an unremarkable gestation (except for transient skin rash and albuminuria) and delivery. At birth, severe right microphthalmia and dysplasia o f the left retina were noted. At 2 weeks of age the baby developed spells of eye rolling, eyelid twitching, extension of the extremities. and mild cyanosis. Roentgenograms demonstrated normal skull and forearms but multiple thoracic vertebral anomalies. T h e head progressively enlarged, and a ventriculogram showed agenesis of the corpus callosum and multiple cortical heterotopias. An electroencephalogram was moderately abnormal with a paroxysmal epileptogenic focus in the left hemisphere. At 3 months of age a ventriculoatrial shunt was inserted due to increasing head size.At the age of 29 months, a follow-up examination revealed an unresponsive child in decerebrate posture with torticollis and poor handling of oral secretions. There was generalized chorioretinitis o n the left. T h e electroencephalogram was profoundly abnormal, with a burst-suppression pattern. Patient 2An infant girl was the product of a term pregnancy marked by "stomach cramps," headaches, and vaginal discharge. Labor was induced 48 hours after rupture of the membranes. At 10 weeks, the patient began to have headbobbing spells up to 100 times per day, with tonic-clonic movements and eye deviation to the left. Right microphthalmia and extensive bilateral chorioretinitis f Fig l I were seen. Roentgenograms showed brachycephaly and variations in size of the lumbar vertebrae. A pneumoencephalogram revealed agenesis of the corpus callosum and heterotopias adjacent to dilated lateral ventricles. The EEG was markedly and diffusely abnormal, with frequent spike-wave and polyspike-wave bursts consistent with hypsarrhythmia and a burst-suppression pattern. T h e seizures persisted despite a regimen of phenobarbital, 3 0 mg daily, phenytoin, 15 mg daily, and prednisone, 1 5 mg daily. Putierit 3A term female infant required forceps delivery after 32 hours of labor. At 1 1 weeks she developed daily convulsions consisting o f cyclic flexion o f the extremities for several seconds; these convulsions were not controlled with phenobarbital, 40 mg per day. At 14 weeks, examination revealed normocephaly, bilateral chorioretinitis. right exorropia, and hypotonia. Roentgenograms showed a normal skull but multiple thoracic spinal anomalies. A

Aicardi’s Syndrome: a Result of Overdistention of the Neural Tube

“…These vertebral anomalies may be accompanied by anom alies of ribs arising from the same anlagen. The constant occurrence of these skeletal anomalies in the syndrome described by Aicanli supports the concept that his entire syndrome results from overdistention of the neural tube [1][2][3][4].…”

Síndrome de Aicardi: relato de dois casos

“…A lesão, segundo estudos angiofluoresceinográficos, é restrita à camada da coróide, com aparente manutenção da retina 5 .…”

Epidemiology of Seizure Disorders in Children; pp. 62–83

“…First, it resembles some congenital infections [152], Serum antibodies to the viruses most commonly associated with congenital infections, however, have not been elevated. Second, the types of anomalies, especially the corpus callosum agenesis, favor the occurrence of a developmental insult sometime between the 4th and 8th weeks of gestation [151], To date, only 1 child has had a chromosomal abnormality [153]. Third, the syndrome has been seen in girls only.…”

“…The Aicardi syndrome was first described in 1969 in a series of 15 girls with agenesis of the corpus callosum, infantile spasms, a characteristic cho rioretinopathy, mental subnormality, and costovertebral anomalies [150], More than 45 cases have now been reported [151,152]. The syndrome has received a good deal of attention for several reasons.…”