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Purpose To describe ocular features and long-term follow-up in a patient with microcephaly, chorioretinopathy, and KIF11 mutation. Methods Multimodal imaging including fundus color photography, autofluorescence, spectral-domain optical coherence tomography, visual fields, electrophysiologic assessment, and neuroimaging. Results A 44-year-old man with microcephaly and long-standing poor vision in his right eye presented for general ophthalmic review. Fundus examination revealed bilateral, symmetrical, inferior, atrophic chorioretinal lacunae, outer retinal and retinal pigment epithelial atrophy, curvilinear streaks, and retinal arteriolar sheathing. These findings were documented over a 3-year period by multimodal imaging and showed slow progressive deterioration in visual acuity, visual field testing, and fundus autofluorescence appearance. Genetic testing confirmed a KIF11 gene mutation. Conclusion Curvilinear streaks and retinal arteriolar sheathing in this patient expand on the more typical fundus findings of KIF11 mutations. The outer retina is preferentially involved, and there is anatomical sparing of the macula until later in the disease state when multifocal electroretinography indicates functional impairment. Lacunae represent scleral depressions with the loss of overlying choroid and outer retina. Slow atrophic progression with loss of vision may occur over time.

Aicardi syndrome is a rare X-linked cerebro-retinal disorder characterized by agenesis or dysgenesis of the corpus callosum, seizures, and chorioretinal lacunae; microphthalmia or optic nerve coloboma may also be observed. We report the case of an infant born with severe ocular malformations, including an anterior chamber cyst in one eye, which was surgically removed.

Aicardi syndrome, first described by French neurologist Jean François Marie Aicardi in 1965, is a constellation of features characterized mainly by the triad of early infantile spasms, chorioretinal lacunae, and agenesis of the corpus callosum. The authors describe a 1-year-old child with Aicardi syndrome with previously unreported ophthalmic features of aplasia of the right optic nerve and bilateral iris colobomas.

We report a 6-year-old girl with corpus callosum agenesis and other cerebral malformations, scoliosis and hypopigmented chorioretinal lacunae in both fundi typical of Aicardi syndrome. She has never had epilepsy and the EEG has always been normal, observations not reported previously in Aicardi syndrome. She was mildly mentally retarded with a full scale IQ of 61. The patient exhibited an unusually mild Aicardi syndrome phenotype.

Aicardi syndrome (AS) is an X-linked inherited disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. The syndrome is more frequently seen in females but is observed in XXY male patients. Central nervous system, ocular, and costovertebral malformations may also seen in AS. Eye findings are of a considerable diagnostic importance; the chorioretinal lacunae are pathognomonic for AS and are generally bilateral. The outcome of the disease is generally severe, with a high mortality rate and poor developmental outcome. It is not clear which characteristics of the syndrome are related to a good prognosis in terms of psychomotor development, epileptic seizures, and survival. The purpose of this report was to demonstrate the spectrum of the clinical findings and the course of AS in two Turkish patients with different ocular and cranial MRI findings.

Aicardi syndrome is a rare congenital disorder with a classic triad of infantile spasms, chorioretinal lacunae, and agenesis of the corpus callosum. We report the use of fluorescein angiography and spectral domain optical coherence tomography to examine the posterior segment structures in an 8-month-old girl with Aicardi syndrome. Most of the observed features correlated with previously published histopathological findings, but inner nuclear layer cysts have not been previously described. To our knowledge, this is the first study of the tomographic and angiographic chorioretinal features in vivo.

We present a female with Aicardi syndrome (AS) who had infantile spasms, characteristic chorioretinal lacunae, partial agenesis of the corpus callosum, and neuronal migration abnormalities. Our patient was also diagnosed with a composite lung lesion of intralobar pulmonary sequestration and congenital cystic adenomatoid malformation (CCAM) and developed a hepatoblastoma. This is the second report that describes the association of hepatoblastoma and AS, and the first report of pulmonary sequestration or CCAM and AS...

Aicardi syndrome was originally described as a triad of partial or complete agenesis of the corpus callosum, infantile spasms, and pathognomic chorioretinal lacunae. Of approximately 200 cases reported since it was originally described in 1965, there have been no undisputed reports of Aicardi syndrome in a 46 XY male. Thus a dominant X-linked inheritance, presumed lethal in males, has been proposed. Herein we report a 5 year-old 46 XY male with the classic clinical triad of Aicardi syndrome.

Aicardi syndrome is a triad of abnormalities that includes total or partial agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. This syndrome was first described in 1965. A female infant with Aicardi syndrome associated with a nasoethmoidal cephalocele is described in this report. She presented with a history of unilateral nasal discharge since birth and seizures since age 1 week. She was microcephalic and there was visual impairment. A fleshy mass of the left nostril was noted. Ophthalmological evaluation revealed left exotropia, dysplastic optic discs and retina, 'morning glory' appearance of the left optic disc, and bilateral chorioretinal lacunae. Magnetic resonance imaging of the brain showed absence of the corpus callosum, dysmorphic changes of the lateral ventricles, a superiorly located third ventricle, heterotopic grey matter of the frontal lobes, a left nasoethmoidal cephalocele, and closed lip schizencephaly of the left frontal lobe. This female infant developed asymmetric infantile spasms at age 8 weeks. Surgical correction of the cephalocele was declined. She developed recurrent pneumonias secondary to aspiration of feeds and died at age 8 months during one of these events.

Two female infants with callosal agenesis, infantile spasms, chorioretinal lacunae, optic disc colobomas and cortical heterotopias were diagnosed with Aicardi syndrome. A choroid plexus papilloma was found in one patient, and choroid plexus cysts were found in the other. Choroid plexus lesions are common findings in the Aicardi syndrome and are discussed in this paper.

Background Aicardi syndrome (AS) is a rare neurodevelopmental disorder characterized by the triad of corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. Most patients with AS also have intractable epilepsy, moderate to severe learning disability, and a reduced life expectancy. An X-linked dominant inheritance caused by de novo mutations pattern, lethal in males, is postulated, but the gene has not yet been isolated. There are three case reports of 47 XXY males with classic features of AS who all had severe developmental disability. Case report We report a case of a 3.5-year old 47 XXY male with the classic triad of Aicardi syndrome but with good seizure control and mild learning disability.

BACKGROUND: Aicardi syndrome is a cerebroretinal disorder originally described in 1965. Its salient clinical features are infantile spasms, agenesis of corpus callosum, hypsarrhythmia, and a pathognomonic optic disc appearance consisting of multiple depigmented chorioretinal lacunae clustered around the disc. METHODS: Clinical report with cranial computed tomography and biopsy results. RESULTS: A 3-year-old female patient presented with Aicardi syndrome and progressive proptosis of the left eye since birth. Visual acuity was light perception only in the right eye. Ocular motility examination showed large angle of left exotropia. Direct funduscopy showed a large optic nerve head and chorioretinal lacunae in the right eye; the left eye was not visible. Magnetic resonance imaging detected a large retrobulbar cyst and left microphthalmia. The patient underwent neurosurgery. Intraoperative microscopic dissection of the dural membrane led to exposure of an underlying cyst, which was 80% resected. Biopsies of walls of the orbital cyst showed fragments of neuroglial and meningothelial tissues with some calcification and mild chronic inflammation. Psammoma bodies were identified. The diagnosis was heterotopic brain tissue. CONCLUSIONS: Heterotopia of brain tissue within the orbits is a very rare finding. Two previous reports have described an orbital cyst in association with Aicardi syndrome, both attributed to encephaloceles. We report a very rare case of heterotopia of brain tissue in Aicardi syndrome. The patient did not have an encephalocele.

Three anatomical cases of unlayered polymicrogyria associated with agenesis of the corpus callosum and heterotopias are presented. The cortical dysplasia includes: (1) thin unlayered cortical mantle with radial disposition but no horizontal organisation of the neurons; (2) microgyria with fused molecular layers; and (3) persisting transitory cells in the molecular layer (Cajal-Retzius cells, subpial granular layer). A Golgi study of the cortex in one case shows abnormal orientation of the neuronal dendritic tree in the superficial area along the fused molecular layers. Heterotopias are of two types: scattered neurons in the subcortical region and in layer I; and nodular heterotopias in the paraventricular region and in centrum semi ovale. This type of cortical dysplasia differs from the classical four-layered microgyria and is similar to the cortical anomalies described in Aicardi syndrome. One case presented here has Aicardi syndrome, while the two others, one girl and one boy, do not meet the criteria for Aicardi syndrome; in particular, they do not display chorioretinal lacunae. Nevertheless, this neuropathological association is responsible for severe mental retardation and epilepsy, and incites the search for a genetic origin like that in Aicardi syndrome.

Aicardi syndrome is characterized by agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. The authors describe the case of a girl with chorioretinal lacunae, seizures, and cerebral cyst, but a normal corpus callosum. Incomplete forms of Aicardi syndrome are reported in the literature, but typical choroidal lacunae are always present and are pathognomonic.

Aicardi syndrome ( OMIM 304050) is defined by the clinical triad of early-onset infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. Almost all patients are females showing severe cognitive and physical disabilities, and early onset seizures. Astrocytic inclusions containing filamin have been found, but the molecular defect in Aicardi syndrome is not yet known. We report a male patient with Aicardi syndrome characterised by agenesis of the corpus callosum, infantile spasms, chorioretinal lacunae, severe psychomotor retardation, periventricular heterotopias, and patent ductus arteriosus. As the latter two symptoms are suggestive of a mutation in the FLNA gene encoding filamin A, this gene was sequenced, but the sequence did not reveal a disease-causing mutation.

Case report of a four-year-old girl with Aicardi's syndrome diagnosed from the triad: absence of the corpus callosum, focal seizures, and chorioretinal lacunae. In addition, MR scans and orbital ultrasonography detected retrobulbar cysts behind the right microphthalmic eye not described so far. Analyzing the histological data from two previous reports, it becomes likely that the cysts have formed from abnormal migration of neuroretinal tissue through the border of the optic disc coloboma that was also present. This pathomechanism is also known in isolated colobomatous microphthalmos in which cysts may occur.

Aicardi syndrome is an X-linked dominant disorder characterized by the pathognonomic association of three clinical signs: agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae. This is a severe syndrome with an estimated survival rate of 76% at 6 years and 40% at 14 years and a maximum developmental level like a 12-month-old baby in 91% of cases. We illustrate a case of Aicardi syndrome with bilateral, small chorioretinal lacunae, infantile spasms with a typical hypsarrhythmia, defects of thoracic vertebra and bilateral absence of the 12th rib associated with an arachnoid cyst of the quadrigeminal cistern, and presence of the corpus callosum with a favorable outcome.

Aicardi syndrome is a rare neurodevelopmental disorder characterized by agenesis of the corpus callosum, other developmental brain abnormalities, chorioretinal lacunae, and severe seizures. Current clinical knowledge is derived from small series that focus on these major defects. The authors performed a health survey on a large number of affected children to expand this knowledge and to uncover previously unrecognized features of Aicardi syndrome. Responses received from caregivers of 69 children with Aicardi syndrome met inclusion criteria for data analysis. Ages ranged from 5 months to 32 years (mean, 88 months). All subjects were girls, except for 1 boy with a 47,XXY karyotype. The authors found that the growth rate in Aicardi syndrome slows at age 10 years to below the 5th percentile and that weight gain slows at age 7 years to below the 25th percentile. The median age of survival was estimated at 18.5 (±4) years, more favorable than previously reported. The most common complication aside from seizures was gastrointestinal dysfunction, present in >90%. The results from this survey contribute new information on Aicardi syndrome that will benefit clinical management, and collected data will benefit phenotype-driven research toward its underlying cause.

PURPOSE. Aicardi syndrome (AIC) is a congenital neurodevelopmental disorder characterized by infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. Variation in phenotype and disease severity is well documented, but chorioretinal lacunae represent the most constant pathological feature. Aicardi syndrome is believed to be an X-linked-dominant disorder occurring almost exclusively in females, although 46, XY males with AIC have been described. The purpose of this study is to identify genetic factors and pathways involved in AIC. METHODS. We performed exome/genome sequencing of 10 children diagnosed with AIC and their parents and performed RNA sequencing on blood samples from nine cases, their parents, and unrelated controls. RESULTS. We identified a de novo mutation in autosomal gene TEAD1, expressed in the retina and brain, in a patient with AIC. Mutations in TEAD1 have previously been associated with Sveinsson's chorioretinal atrophy, characterized by chorioretinal degeneration. This demonstrates that TEAD1 mutations can lead to different chorioretinal complications. In addition, we found that altered expression of genes associated with synaptic plasticity, neuronal development, retinal development, and cell cycle control/apoptosis is an important underlying potential pathogenic mechanism shared among cases. Last, we found a case with skewed X inactivation, supporting the idea that nonrandom X inactivation might be important in AIC. CONCLUSIONS. We expand the phenotype of TEAD1 mutations, demonstrate its importance in chorioretinal complications, and propose the first putative pathogenic mechanisms underlying AIC. Our data suggest that AIC is a genetically heterogeneous disease and is not restricted to the X chromosome, and that TEAD1 mutations may be present in male patients.

Aicardi syndrome is a cerebroretinal disorder consisting of a heterogeneous spectrum of clinical findings that includes the triad of infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. This report describes a 6-month-old girl who has all of the essential features suggestive of Aicardi syndrome, as well as a pineal gland cyst and ventricular septal defect. Although the characteristic features of Aicardi syndrome have been described, its association with pineal gland cyst and ventricular septal defect has not been reported in the literature.

Aicardi syndrome is a congenital disorder characterized by severe psychomotor retardation, corpus callosum agenesis, chorioretinal lacunae, and early-onset infantile spasms. The prognosis is generally poor for children with the classical form. We report a peculiar case of Aicardi syndrome characterized by corpus callosum hypoplasia, brain malformations with subependymal heterotopias, extensive chorioretinal lacunae, seizures, and normal cognitive functions. Therefore, the clinical picture of the syndrome is broader than originally described. Cognitive disorders should not be considered inevitable and the prognosis not ineludibly poor.

Aicardi syndrome is a severe congenital disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. A 6 month old female had developed abnormal eye movement and seizures of the complex partial type and myoclonic type. MRI pictures of the patient revealed the presence of genu associated with agenesis of the rest of corpus callosum. A funduscopic examination revealed bilateral small, solitary, pale areas with sharp borders, some of which had minimal surrounding pigmentation (chorioretinal lacunae), especially clustered around the disc, and they were more prominent on the left side. We report here on the unusual findings of a complex partial seizure, myoclonic seizure and the atypical EEG finding in addition to the well-known characteristic clinical and imaging findings of a patient with Aicardi syndrome.

i f f p E p v s I x c F M U s icardi syndrome was first described in 1965 by a rench neurologist as a tetrad of infantile spasms, genesis of the corpus callosum, chorioretinal lacunae, nd mental retardation. This syndrome is believed to e caused by an X-linked dominant gene that is lethal n hemizygous males. Other associated anomalies, ncluding ectopic cerebral gray matter and vertebral nomalies, have been described in patients with icardi syndrome. Cleft lip and palate have also been eported. However, there have been no previous reorts of Robin sequence (cleft palate without cleft lip, icrognathia, and glossoptosis) in association with icardi syndrome. We present a patient with this nique association.

Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are females with severe cognitive and physical disabilities. All of the cases reported in the literature have had early-onset seizures. Most cases of Aicardi syndrome exhibit very slow development, even when seizures are eventually controlled, and the cases with a relatively favourable outcome are associated with low intelligence quotient levels. A relationship between chorioretinal changes or severity of the agenesis of the corpus callosum and prognosis of Aicardi syndrome has been claimed, but few data are available about the clinical features that can predict clinical outcome. We describe a case of Aicardi syndrome in a female aged 24 months. Magnetic resonance imaging showed complete agenesis of the corpus callosum and ophthalmoscopy revealed chorioretinal lacunae in the left eye. She had never had seizures and her psychomotor and language development were normal for age.

AIMS/BACKGROUND: This study was undertaken to document visual function and acuity in patients with Aicardi syndrome, and to determine whether there is any relation between ocular features of the syndrome exhibited at birth and later visual function. METHODS: Fourteen patients with Aicardi syndrome, all examined and followed by the same ophthalmologist, were reviewed between 1975 and 1992 and their ocular characteristics and visual acuity described. It was hypothesised that larger lacunae may be associated with poorer clinical outcome and therefore the relation between these two variables was investigated. RESULTS: Visual acuity as documented by Snellen, Sheridan-Gardner, preferential looking, or pattern visual evoked potential tests was in the normal to low normal range in six eyes of four patients. Visual function correlated significantly with macular appearance. Good visual function was preserved if the fovea appeared normal on funduscopic examination and was uninvolved by lacunae. The size of the largest chorioretinal lacuna also correlated significantly with clinical outcome: patients with large lacunae were more likely to be immobile and to have no language skills. CONCLUSION: It was concluded that good visual function in patients with Aicardi syndrome may be anticipated if the fovea is normal. Although many patients have severe psychomotor retardation, the presence of predominantly small chorioretinal lacunae may indicate a better prognosis for mobility and language development.

Aicardi syndrome is a rare genetic disorder. The salient features of this syndrome include agenesis of corpus callosum, chorioretinal lacunae and infantile spasms. Of these three, chorioretinal lacunae is the most constant feature present. This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of this rare syndrome.

3-MONTH-OLD FEmale infant was referred to the ophthalmology unit as partoftheinvestigationforinfantilespasms.Ocularexaminationshowednormalvisualattentiveness and pupillary function. Theopticnerveswereverticallyoval and there were multiple chorioretinal lacunae adjacent to the discs (Figure 1). Neuroimages revealed absence of the corpus callosum. Aicardisyndromewasdiagnosed.By the age of 6 years devastating neurological deterioration had occurred. Reexamination of the retinas at this time revealed increased pigmentation of the retinal lesions, even within the lacunae (Figure 2). COMMENT In 1965 Aicardi and associates 1 describedasyndromeconsistingofcallosal agenesis, chorioretinal lacunae,andinfantilespasms.Sincethen many cases of this X-linked recessivedisorderhavebeenreportedand the spectrum of ophthalmological and neurological findings is now broad. Becausethechorioretinallacunae are characteristic, their recognition is critical. Aicardi et al 1 first described these lesions as areas of “pseudotoxoplasmic”atrophicchoroiditis. They may vary in size from 0.1toseveraldiscdiametersandtend toclusteraroundtheopticnerve 2 or even involve it. The so-called colobomas of the optic nerves do not resemble the fusion defect that results in true colobomas. Although the lacunae of Aicardi syndrome have been likened to the pigmentary changes associated with infectious chorioretinopathies, 3 they really in no way resemble the harsh

• Eyes obtained at autopsy from a female infant with Aicardi syndrome (chorioretinal lacunae, agenesis of the corpus callosum, and seizures) were studied by light and electron microscopy. The retinal insertion was displaced anteriorly over the ciliary body, the choroid was ettenuated, and the retinal pigment epithelium showed hyperplasia and pigment migration throughout the sensory retina. Rosettes of photoreceptorlike cells and inversion of the photoreceptor layer were found. A hole within a lacuna showed total absence of the sensory retina. Optic disc epipapillary tissue consisted of glial and fibrous elements with a vascular core. The mechanism of photoreceptor folding is considered. The continuity of the external limiting membrane with the retinal pigment epithelium at sites of photoreceptor folding seen in our case suggests defective early development.

Aicardi's syndrome occurs in females and is associated with profound mental retardation, agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. We report a distinctive combination of abnormalities which was observed on real-time cranial ultrasound scans of two infants with Aicardi's syndrome. These abnormalities include bilateral prominent cysts in the choroid plexus in conjunction with agenesis of the corpus callosum. Recognition of these radiologic findings may suggest the diagnosis of Aicardi's syndrome in early infancy even prior to the onset of seizures or visualization of chorioretinal lacunae. (J Child Neurol 1989;4:307-310).

A 2-month-old infant with the typical clinical features of Aicardi syndrome (i.e., infantile spasms, chorioretinal lacunae, and agenesis of the corpus callosum) is reported. At 5 years of age, pathologic examination revealed cortical heterotopias, rostral agenesis of the corpus callosum, hypoplasia of the unilateral optic nerve, and bilateral cerebellar hemispheres. Cavum septum pellucidum was present. A literature review of 5 autopsied patients with this syndrome is included.

The clinical and autopsy findings in a female infant with Aicardi’s syndrome are presented. A clinical entity consisting of seizures, mental retardation, and chorioretinal lacunae, Aicardi’s syndrome is found only in females and is associated with agenesis of the corpus callosum. Vertebral anomalies may also occur. Although the time of developmental arrest appears to be within the first trimester of pregnancy, the etiology of this disorder remains unknown.