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RESUMEN Introducción: el síndrome de Aicardi (SA; OMIM #304050) es un trastorno genético raro, cuya incidencia es de aproximadamente 1/100.000. Fue descrito en 1965 como una triada consistente en agenesia del cuerpo calloso, lagunas coriorretinianas y espasmos infantiles. Asocia discapacidad intelectual severa y epilepsia de difícil control. Aunque su espectro clínico es variable, tiene por lo general un pronóstico infausto debido a la elevada morbimortalidad asociada. Se considera un trastorno esporádico causado por variantes patogénicas en heterocigosis de un gen ligado al cromosoma X, que causa mortalidad embrionaria en varones hemicigotos. Objetivo: este trabajo pretende llevar a cabo una revisión bibliográfica acerca de la literatura científica disponible del síndrome de Aicardi. De esta manera se hará una actualización sobre esta entidad en cuanto a definiciones, prevalencia e incidencia, etiología, espectro clínico y pronóstico de los pacientes afectos. Materiales y métodos: se lleva a cabo una búsqueda bibliográfica retrospectiva en las principales bases de datos científicas. Para ello, se utilizan las palabras clave “Aicardi”, “agenesia del cuerpo calloso”, “espasmos infantiles” y “encefalopatía epiléptica”. Conclusiones: desde su descripción se ha ido ampliando el espectro de manifestaciones clínicas del síndrome. Actualmente no se conoce la existencia de un biomarcador que posibilite el diagnóstico, por lo que éste continúa siendo eminentemente clínico. Se debe tener un alto nivel de sospecha en espasmos infantiles de debut precoz en mujeres con alteraciones en neuroimagen. ABSTRACT Introduction: Aicardi syndrome (AS; OMIM #304050) is a rare genetic disorder, with an incidence of approximately 1/100,000. It was described in 1965 as a triad consisting of agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. It is associated with severe intellectual disability and difficult-to-control epilepsy. Although its clinical spectrum is variable, it generally has a poor prognosis due to the associated morbidity and mortality. It is considered a sporadic disorder caused by heterozygous pathogenic variants of a gene linked to the X chromosome, which causes embryonic mortality in hemizygous males. Objective: this article performs a bibliographic review of the available scientific literature on Aicardi syndrome. In doing so, we hope to update the disorder’s definitions, prevalence and incidence, etiology, clinical spectrum and prognosis of affected patients. Materials and methods: we performed a retrospective bibliographic search in the main scientific databases. For this, we searched for the keywords "Aicardi", "agenesia of the corpus callosum", "infantile spasms" and "epileptic encephalopathy". Conclusions: since it was first described, the spectrum of clinical manifestations of the syndrome has been expanding. Currently, there is no known biomarker that makes diagnosis possible, so it continues to be eminently clinical diagnosis. A high level of suspicion should be present in cases of early-onset infantile spasms in women with neuroimaging abnormalities.

Introduction and importance: Aicardi syndrome (AS) is a rare genetic syndrome characterized by a triad of features: agenesis or hypogenesis of corpus callosum, chorioretinal lacunae, and infantile spasms, along with other neurodevelopmental, ocular, craniofacial, gastrointestinal, and musculoskeletal disorders. The precise etiology of AS is unknown, and establishing a diagnosis is challenging since it is an extremely rare syndrome and may mimic other congenital neurological defects. Case presentation A 2-month-old girl was brought to our hospital, she developed multiple episodes of generalized spasticity with hyperflexion of upper and lower extremities on trunk (tonic seizure), with fast jerking movements of the eye, with signs of Psychomotor Development delay. Clinical discussion Ophthalmic examination showed bilateral medial strabismus without nystagmus, Retinal examination showed bilateral small peripapillary well-circumscribed chorioretinal lacunae with hyperpigmented borders, thoracic spine x-ray (AP view) showed hemivertebrae and loss of height in the 7th and 8th thoracic vertebral body. Magnetic Resonance Imaging (MRI) revealed grey matter heterotopia, underdevelopment of the left operculum, hypogenesis of the corpus callosum, hypogenesis of inferior vermis, and multiple cysts with peripheral enhancing. Eventually, the diagnosis of AS is confirmed by the results of radiological imaging and ophthalmology exam. Conclusion In this paper, we report a case of Aicardi syndrome diagnosed in a 7-month-old girl with frequent tonic seizures. We report this case to highlight that Aicardi syndrome should be considered in the differential diagnosis in cases of frequent tonic seizures with abnormal findings on retinal examination and characteristic findings on MRI., Highlights • Aicardi syndrome (AS) is a rare syndrome characterized by a triad of features. • AS triad is callosal hypogenesis, chorioretinal lacunae, and infantile spasms. • Establishing the diagnosis of AS is challenging. • AS may mimic other congenital neurological defects.

Aicardi Syndrome (AS) is a rare and severe neurodevelopment disorder, usually involving the female gender and characterized by hypogenesis of the corpus callosum, ocular abnormalities (chorioretinal lacunae), a severe, drug-resistant epilepsy, intellectual disability, costovertebral anomalies, other brain malformations and mild facial dysmorphism. The genetic cause of AS has never been found. We report on a female patient, affected by AS spectrum and presenting the classic triad (hypogenesia of the corpus callosum, choriorentinal lacunae, drug-resistant epilepsy) and other brain malformations (polymicrogyria, cortical dysplasia, heterotopias and asymmetric ventricles). A NGS-panel for epilepsy and brain malformations disclosed a compound heterozygosis in DCHS1 gene, which is the cause of Van Maldergem syndrome, characterized by severe face dysmorphism, skeletal abnormalities, respiratory tract malformations and severe brain involvement. We hypothesize that the phenotype of this AS patient may be caused by variants in DCHS1 gene and that the two syndromes may share common genetic causes. Interestingly, DCHS1 is located in proximity to TEAD1 (chromosome 11p15), reported as causative of AS in a single patient, and both the proteins are involved in the hippo-pathway (which regulates cellular growth and apoptosis). Alternatively, the patient could present a new subtype of Van Maldergem Syndrome, without face dysmorphism and skeletal abnormalities.

Purpose: To describe an unusual case of Aicardi Syndrome that both affirms hallmark characteristics of the condition and introduces new observations. Observations: We report the case of a 20-year-old woman with Aicardi Syndrome who presented in respiratory distress with bradycardia and died soon thereafter. She had a history of severe mental retardation, seizure disorder, advanced scoliosis and numerous contractures in addition to congenital ocular malformations resulting in bilateral blindness. The case is notable for her age and longevity, as most patients with Aicardi Syndrome expire much younger, as well as the presence of intact nuclei under the posterior lens capsule. Conclusions and importance: Aicardi Syndrome is a rare X-linked cerebro-retinal disorder typified by seizures, agenesis of the corpus callosum, and chorioretinal lacunae. Documenting alterations from and additions to this triad of symptoms is critical to better understanding both the syndrome itself, as well as the full breadth of its clinical impact on the patient. Keywords: Aicardi syndrome, Chorioretinal lacunae, Posterior lens capsule, Corpus callosum

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Background Aicardi syndrome is a severe neurodevelopmental disorder characterized by infantile spasms, typical chorioretinal lacunae, agenesis of the corpus callosum, and other neuronal migration defects. It has been reported recently that de novo variants in TEAD1 and OCEL1 each may cause Aicardi syndrome in a single individual of a small cohort of females with this clinical diagnosis. These data were interpreted to suggest that the clinical diagnosis of Aicardi syndrome may be genetically heterogeneous. Methods To investigate this further, we sequenced TEAD1 and OCEL1 coding regions using DNA from 38 clinically well-characterized girls with Aicardi syndrome. Results We did not detect the previously reported or any other deleterious variants in any of the analyzed samples. Conclusions This suggests that the published variants represent either an extremely rare cause of Aicardi syndrome or an incidental finding.

Introduction: the Aicardi syndrome (SA) is characterized as a rare syndrome identified in the presence of three classic characteristics: corpus callosum agenesis, chorioretinal lacunaeand infantile spasms. Description: data collection involved information reported by the mother and the accompanying physiotherapist describing the patient's clinical history andmajor complications according to clinical evolution, treatment, and therapeutic response. At two months of age, the child presented a delayed neuropsychomotor development and infantile spasms.However,the diagnosis of the syndrome was only performed at six months of life, involving brain magnetic resonance imaging where corneal body agenesis was observed. A multidisciplinary treatment was assembledwith a neuropediatrician, a physiotherapist, a psychologist, a nutritionistand a speech therapist, besides drug treatment with baclofen and phenobarbital. Discussion: through the established treatment, the child displayedmotor gain, cervical control, improvement of the respiratory condition, and no need forhospital admissions;these outcomescharacterizea good clinical evolution associated with the physiotherapeutic intervention focused on prevention and minimization of respiratory alterationsthatare frequently associated with morbidity and mortality in these cases. The results obtained point out the fundamental role of multidisciplinary intervention in coping with this condition.

Agenesis of corpus callosum is a rare malformation of the brain. In Aicardi syndrome, it is associated with retinal lacunae and infantile spasms. Once Aicardi syndrome is diagnosed, one should look for other central nervous system malformations. We report a child who presented with developmental delay, chorioretinal lacunae and infantile spasms, due to Aicardi syndrome, associated with a type 2b interhemispheric cyst diagnosed on magnetic resonance imaging.

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.

Aicardi syndrome is a rare neurodevelopment disorder characterized by agenesis of the corpus callosum, other developmental brain abnormalities, chorioretinal lacunae, severe seizures, and cleft lip and palate (CLP). This syndrome has been observed only in female due to be caused by an X-linked dominant gene that is lethal in hemizygous males. There has not been reported about the presurgical nasoalveolar molding (PNAM) treatment for Aicardi syndrome patient with CLP, although the importance of PNAM treatment for cleft lip is widely recognized. The purpose of this report was to present PNAM treatment for the case of Aicardi syndrome with CLP, along with a pertinent review of the literature, comparison to similar case reports, and to describe for the process of PNAM treatment in this syndrome.

Background/Aims: Retinoblastoma (Rb) generally presents in children Methods: A chart review was conducted of a patient with AS. We examined the ophthalmic history, fundus images and B-scan ultrasonography. Histopathological analysis was conducted on globe sections. Results: The patient's ophthalmic history was consistent with normal findings of AS: fundus images and B-scan ultrasonography revealed chorioretinal lacunae and an area of retinal detachment, respectively. The patient presented with chronic irritation and mydriasis of the blind left eye. This was enucleated as treatment. Histopathology revealed a focally differentiated Rb. Immunohistochemistry demonstrated that the tumor cells were positive for synaptophysin and negative for the wild-type Rb protein, and a high Ki-67 proliferation index was shown. Conclusion: Our patient was diagnosed with Rb at age 16. AS has been associated with numerous ophthalmic findings, but this is the first report relating it to a late Rb presentation. Meticulous ophthalmic examinations should be considered through the teenage years and early adulthood of AS patients.

El síndrome de Aicardi (SA), es una rara enfermedad neurogenética, diagnosticada clínicamente por la triada clásica de agenesia del cuerpo calloso, espasmos infantiles y lagunas corioretinales. El objetivo de nuestro trabajo fue presentar el espectro clínico y la evolución de este trastorno en un caso. Reportamos una lactante de dos meses, de malformaciones cerebrales múltiples, que ingresa a emergencia por presentar crisis convulsivas. Durante la hospitalización, los hallazgos clínicos - electroencefalográficos, neuroimágenes y evaluación oftalmológica confirman el diagnóstico de SA. Se resalta la importancia de conocer las manifestaciones clínicas del síndrome, para tenerlo en cuenta como diagnóstico diferencial, sobre todo en aquellos casos que presenten espasmos infantiles asociados a agenesia del cuerpo calloso. Aicardi’s syndrome (SA) is a rare genetic disease, clinically characterized by the classic triad of agenesis of the corpus callosum, infantile spasms and chorioretinal lacunae. The aim of this presentation is to describe the clinical spectrum and evolution of the disorder. We report the case of a 2-month old female infant with a prenatal diagnosis of multiple brain malformations, brought into the Emergency Room while experiencing seizure spells. During her hospitalization, electroencephalography, neuroimaging and ophthalmologic evaluations confirmed the diagnosis of SA. The importance of knowing the clinical manifestations of the syndrome is emphasized, in order to keep it in mind as part of the differential diagnosis for cases presenting infantile spasms associated with agenesis of the corpus callosum.

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 anomaly characterized by infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. This syndrome has been observed only in females. A case of Aicardi syndrome with cleft palate is reported.A six-month-old girl was given a diagnosis of Aicardi syndrome with cleft palate.At 3 years 4 months of age, when the patient weighed 11.3kg, we performed a push-back operation without complications. She is now 8 years old and is not able to use intelligent words. Nearly 200 patients with Aicardi syndrome have been described in the literature. This report is the seventh case associated with cleft lip and palate, and the second case to undergo palatoplasty.

Aicardi syndrome is a rare X-linked dominant genetic disorder, which is characterized by infantile spasms, chorioretinal lacunae, mental retardation, and agenesis or hypogenesis of the corpus callosum. We present MRI findings of a 3-year-old female patient that reveal very rarely observed associated findings of retinal colobomatous cyst and band heterotopia in addition to the classical clinical and neuroimaging findings of Aicardi syndrome.

PURPOSE Report of an unusual case of Aicardi syndrome. METHODS Case report of an infant with severe chorioretinal lacunae and Aicardi syndrome. RESULTS Despite severe chorioretinal lacunae, a 25-month-old white girl with infantile spasms/seizures had better visual acuity than expected. CONCLUSION The extent of chorioretinal lesions is not necessarily a prognostic factor for visual function.

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.

Aicardi syndrome is a genetic disorder characterized by the triad of infantile spasm in flexion, callosal agenesis and ocular abnormalities (chorioretinal lacunae, coloboma of optic disc). We report a typical case of Aicardi syndrome with all the classical features.

Relatamos um caso de síndrome de Aicardi completa em criança do sexo feminino de 2 meses de idade com defeitos lacunares da coróide, espasmos em flexão, agenesia de corpo caloso e alterações eletrencefalográficas do tipo hipsarritmia assimétrica e alterna atendida no Serviço de Neuropediatria e Neurofisiologia clínica do Hospital de Base de São José do Rio Preto, SP .

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.

Purpose to report a case of Aicardi syndrome associated with macrocrania. Methods Aicardi syndrome is a very rare X-linked congenital disorder. It is characterised by a typical triad of chorioretinal lacunae, agenesis of the corpus callosum and early-onset infantile spasm. Results A five-month-old girl presented with macrocrania and abnormal visual behavior. She was born in Abidjan (Cote d'Ivoire) and suffered from hydrocephalus. She underwent first ventriculo-peritoneal derivation when she was one-month-old. This derivation was not efficient and her intracranial hypertension worsened. She suffered from local seizures during the two first months of life. Her brain CT scan showed tri-ventricular hydrocephalus and agenesis of the corpus collosum. She was referred to Caen university hospital neurosurgery department in order to have a new derivation. She presented with no ocular pursuit and no light perception. The papillary light reflexes were present. Fundus examination showed bilateral chorioretinal lacunae involving both maculas with clear cut margins. Conclusion We diagnosed this Aicardi syndrome thanks to the clinical triad. However, Aicardi syndrome is rarely associated with macrocrania. We rewiewed the literature to discuss the wide nosological status of this syndrome and its described associations.

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.

Aicardi syndrome is characterized by infantile spasms, agenesis of the corpus callosum, severe mental retardation, and a characteristic chorioretinopathy with lacunar defects. The authors report on a 2-year-old girl with congenital hydrocephaly who was found unresponsive by the baby-sitter and died shortly thereafter. At autopsy, the histopathologic findings, which were confined to the brain and eyes, were found highly characteristic of AIC. The main abnormalities included agenesis of the corpus callosum, micropolygyria, bilateral papillomas of choroid plexi, bilateral microphthalmia, bilateral hypoplasia of the optic nerves, bilateral colobomas of the juxtapapillaris choroid and optic disc, bilateral total retinal detachment with dysplastic rosettes and chorioretinal lacunae with focal thinning, and atrophy of the retinal pigment epithelium and choroid. A detailed histopathologic study of the ocular findings and the brain anomalies is presented. The results of scanning electron microscopy of the chorioretinal lacunae demonstrated peculiar papillary proliferations of the retinal pigment epithelium in both eyes.

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.

Objetivo: Analizar y comparar la casuística de nuestro hospital con los casos descritos en la literatura de Síndrome de Aicardi. El Síndrome de Aicardi es una rara enfermedad genética que afecta a las mujeres, y se caracteriza por agenesia del cuerpo calloso asociada a otras malformaciones del sistema nervioso central y lagunas coriorretinianas. Métodos: Se presentan tres casos clínicos de Síndrome de Aicardi, con importantes diferencias fenotípicas y de evolución de la enfermedad. Resultados: El primer caso es el caso más benigno de Síndrome de Aicardi descrito en la literatura, y se caracteriza por la baja morbilidad ocular, ausencia de epilepsia y de anomalías de la migración neuronal y desarrollo psicomotor normal. El segundo caso presenta larga supervivencia y pocas alteraciones oculares, pero un retardo severo en el desarrollo psicomotor. El tercer caso presenta alteraciones oculares más severas y mala evolución clínica con mortalidad a una edad temprana. Conclusiones: El Síndrome de Aicardi puede ser fenotípicamente heterogéneo presentando gran variabilidad en la severidad de características clínicas como el desarrollo psicomotor y el pronóstico de supervivencia. Nuestro estudio apoyaría que las anomalías de la migración neuronal y las lesiones coriorretinianas pueden ser factores pronósticos de esta enfermedad. Objective: Three cases of Aicardi Syndrome were diagnosed in our hospital. This syndrome is a rare, female-restricted genetic disease, characterized by agenesis of the corpus callosum, other central nervous system malformations, and chorioretinal lacunae. We have compared these cases with other cases of Aicardi Syndrome described in the world literature. Methods: We have reported the three cases of Aicardi Syndrome and detailed the important heterogeneity of phenotypic features and clinical severity. Results: The most benign case (case number 1) was characterized by mild ocular morbidity, absence of both migration abnormalities and epilepsy, and normal psychomotor development. Case number 2 achieved long-term survival with mild ocular alterations, but had severe retardation in psychomotor development. Case number 3 had the most severe ocular abnormalities which evolved rapidly and resulted in early death. Conclusions: Aicardi Syndrome can be phenotypically heterogeneous, presenting with substantial variability in the severity of clinical features such as psychomotor development and survival. Our study indicates that cortical migration abnormalities and retinal lesions may be useful prognostic factors.

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.

Aicardi’s syndrome (AS) is a rare disorder characterized by the clinical triad of agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae. Since its description in 1965,1 more than 200 cases have been reported.26,123,191 With the exception of one XXY male,79 all reported cases have been in female children.