Aicardi Syndrome Choroid Plexus Cysts

TE Herman1, BCP Lee2 and MJ Siegel1 1Department of Radiology, St Louis Children’s Hospital Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA and 2Mallinckrodt Institute of Radiology, Washington University School of Medicine, Department of Neuroradiology, St Louis Children’s Hospital, St Louis, MO, USA

Journal of Perinatology (2007) 27, 323–324. doi:10.1038/sj.jp.7211692 Denouement and discussion The patient has the triad of ﬁndings that deﬁnes Aicardi syndrome: Case presentation infantile spasms, agenesis of the corpus callosum and chorioretinal A 3600 g infant girl was born at term to a 36-year-old mother. lacunae. This syndrome is an x-linked dominant male lethal The pregnancy and immediate neonatal period were unremarkable condition, similar to Rett syndrome, incontinentia pigmenti and and the infant was discharged home. At 2 months of age, the child Goltz focal dermal hypoplasia syndrome, and occurs only in began to have infantile spasms with sudden jerking of the body females and in XXY males. Goltz syndrome and Aicardi syndrome and the eyes rolling back. These occurred approximately 8–10 are believed to be contiguous gene syndromes, with patients times per day. The infant was referred to a neurologist who started occasionally having both conditions. Tentatively the syndrome has the child on 20 mg phenobarbital p.o. b.i.d and 100 mg Keppra p.o. been mapped to Xp22.3.1 b.i.d. There was, however, no change in the seizures or their Aicardi syndrome is often associated with costovertebral frequency. The child was then referred for neurological anomalies, cleft palate or lip, intraorbital, pineal cysts, hypoplasia examination to St Louis Children’s Hospital. An MRI scan (Figures of optic nerve, optic nerve cysts, cortical heterotopia, microgyria 1 and 2) was obtained. An ophthalmologic examination and porencepaly. The pathognomonic chorioretinal lacunae are demonstrated bilateral chorioretinal lacunae. A skeletal survey was areas of hypopigmented or apigmented retinal epithelium and normal. constitute a unique form of chorioretinal atrophy.

Figure 1 (a) Axial MRI T2-weighted image at level thalami, and (b) coronal MRI T2-weighted image at level of the occipital lobes. The left choroid plexus is large and contains large high signal round lesions (arrows). There is absence of the corpus callosum.

Correspondence: Dr TE Herman, Department of Radiology, St Louis Children’s Hospital, Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 South Kingshighway Blvd, St Louis, Missouri, USA. E-mail: [email protected] Received 26 January 2007; accepted 5 February 2007 Aicardi syndrome choroid plexus cysts TE Herman et al 324

Figure 2 (a) Coronal T1-weighted and (b) sagittal T2-weighted images. These show that the round lesions in the left choroid plexus are low signal, and therefore large choroid plexus cysts.

In addition, this patient had a lesion in the choroid plexus, However, there are occasional longer-surviving patients who racemose choroid plexus cysts. Lesions of the choroid plexus are are able to walk and speak some words by 5 years of age. common in Aicardi syndrome. Choroid plexus papiloomas, choroid The variability in clinical symptomotology is probably related plexus neuroepithelial cysts and choroid plexus cysts have been to variable X-chromosome inactivation.7 described in Aicardi syndrome and are probably characteristic.1–3 It is believed that choroid plexus papilloma may be a tumor specific to Aicardi syndrome.4 However, some of the resected choroid plexus lesions have been neuroepithelial cysts1 or at References 3 autopsy choroid plexus cysts. Choroid plexus cysts have been 1 Mehta RC, Marks MP, Levin PS. Aicardi syndrome: MR appearance of unusual 5 described in Aicardi syndrome as a sonographic manifestation orbital and ventricular cystic lesions. AJR 1993; 160: 601–603. since 1989, but pathology has not always been available. However, 2 Buchino JJ, Nicol KK, Parker KC. Aicardi syndrome: a morphologic description in several autopsy cases2 the cysts were seen to be lined by choroid with particular reference to intracytoplasmic inclusions in cortical astrocytes. plexus epithelium and to therefore represent choroid plexus Pediatr Pathol Lab Med 1996; 16: 285–291. inclusion cysts. 3 Ferrer I, Cusi MV, Liarte A, Campistol J. A golgi study of the polymicrogyric The postnatal or fetal sonographic finding of agenesis of the cortex in Aicardi syndrome. Brain Dev 1986; 8: 518–525. corpus callosum and choroid plexus cysts has been described in 4 Robinow M, Johnson F, Minella PA. Aicardi syndrome, papilloma of the both Trisomy 18 and Aicardi syndrome.6 Differentiation should be choroid plexus, cleft lip and cleft of the posterior palate. J Pediatr 1984; 104: aided by the different abnormalities outside the central in the two 404–406. 5 Roland EH, Flodmark O, Hill A. Neurosonographic features of Aicardi’s conditions, and be confirmed by chromosomal analysis. syndrome. J Child Neurol 1989; 84: 307–310. All patients with Aicardi syndrome have mental retardation and, 6 Swan TJ, Rouse GA. Sonographic findings in Trisomy 18. J Diagnostic Med seizure disorder beginning initially as infantile spasms. However, Sono 1991; 5: 255–263. there is variability in the degree of retardation and seizure control 7 Neidich JA, Nussbaum RL, Packer RJ, Emanuel BS, Puck JM. Heterogeneity of in these patients. Many patients have intractable seizures, are clinical severity and molecular lesions in Aicardi syndrome. J Pediatr 1990; profoundly developmentally delayed, and frequently die in infancy. 116: 911–917.

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