Aicardi syndrome is a very rare neurodevelopmental disorder, inherited as an X-linked dominant condition with a triad of infantile spasm, partial or complete agenesis of the corpus callosum, and chorio-retinal \"lacunae.\" We report a case of a female infant with the classical triad of Aicardi syndrome. A female infant presented to the Paediatric Neurology Clinic of the Federal Medical Centre Birnin-Kebbi, North-western Nigeria, at the age of two months with complaints of recurrent afebrile convulsions typical for infantile spasms. The patient was delivered at term with normal Apgar scores and anthropometry. Examination revealed an infant with no dysmorphic features and normal systemic examination. Magnetic Resonance Imaging (MRI) of the brain however, showed complete agenesis of the corpus callosum and dilatation of the posterior horn of the lateral and third ventricles. Fundoscopy showed multiple yellowish spots along the vascular arcades in the right eye. The left eye had a one-disc diameter lacuna in the superior nasal quadrant adjacent to the optic disc with multiple yellowish spots. A diagnosis of Aicardi syndrome was made. The child was placed on oral phenobarbital and followed up. At the age of 18 months, the child can only sit without support, hold an object in each hand, smile socially, and babble. The frequency of the seizures had also reduced from >100 episodes per day to 2-3 episodes per day, but the child had developed right-sided spastic hemiparesis. The patient was commenced on physiotherapy and the anti-epileptic drugs were maintained. We recommend clinicians consider Aicardi syndrome in the differential diagnosis of any child presenting with infantile spasms.

Among persons with neuromuscular mobility limitations, therapeutic positioning has been implemented to improve body function, avoid secondary complications such as contractures and body shape distortions, and optimize body energy through restorative sleep. This case study describes the application of a 24-hour posture care management intervention for a preadolescent girl with Aicardi syndrome. The intervention was administered by adding therapeutic bed positioning to use of a custom molded wheelchair seating system. Over the 6-year intervention period overlapping with the subject\'s adolescent years (age 11-17), marked improvement was observed in thoracic shape and symmetry. Moreover, the subject\'s mother reported regular full-nights of uninterrupted sleep, relaxed muscle tone upon waking, a stronger cough with less audible congestion, more efficient swallowing and zero hospitalizations. The 24-hour posture care management intervention offers an alternative option for families and caregivers of persons with neuromuscular mobility impairments who wish to use a low-risk, noninvasive, locally available approach to improve body symmetry, increase hours of restorative sleep, and ease caregiving routines. Further research in 24-hour posture care management, including positioning for sleep and rest, should be explored in individuals with complex movement limiting disabilities who are at risk of developing neuromuscular scoliosis.

UNASSIGNED: Aicardi syndrome is a neurodevelopmental disorder characterized by a triad of partial or complete agenesis of the corpus callosum, infantile spasms, and pathognomonic chorioretinal lacunae.
UNASSIGNED: Examination, multimodal imaging, and genetic testing were used to guide diagnosis.
UNASSIGNED: We report a case of a pediatric patient who was initially diagnosed with refractory infantile spasms. The patient was unresponsive to conventional antiepileptic therapy, and genetic testing with whole exome and mitochondrial genome sequencing could not identify the underlying cause, so vigabatrin was initiated. The ophthalmic examination under anesthesia for vigabatrin toxicity screening revealed chorioretinal atrophy in the retinal periphery of both eyes, with two 3-disc diameter chorioretinal lacunae superotemporal and inferonasal to the optic nerve in the left eye. Given the neuroimaging findings of corpus callosum hypoplasia with polymicrogyria and ocular findings, the patient was diagnosed with Aicardi syndrome. Genetic testing revealed a novel duplication event at the Xp22 locus.
UNASSIGNED: Aicardi syndrome, albeit a rare condition, should always be considered in the differential diagnosis when investigating a female child with refractory seizures in early childhood. Genetic testing may help further our understanding of AIS and the search for a genetic etiology.

BACKGROUND: Aicardi syndrome is a genetic malformation syndrome with a triad of dysgenesis or agenesis of the corpus callosum, distinctive chorioretinal lacunae and infantile spasms. It is a rare developmental disorder first described in 1965. The disease affects 1 in 100,000 live births.
METHODS: We describe a 34-month-old girl diagnosed with Aicardi Syndrome.
METHODS: Based on the results of color images of the fundus, medical history as well as the analysis of karyotype and DNA microarrays, the patient was diagnosed with Aicardi\'s syndrome.
METHODS: Additionally an B-scan ultrasonography and an electrophysiological test was performed.
RESULTS: Fundoscopic examination revealed optic disc colobomas in both eyes, extensive chorioretinal lacunae at the posterior pole with retinal pigment epithelium regrouping and atrophy. Flash visual evoked potentials (FVEP) P2 amplitude was lower than normal range. B-scan ultrasonography revealed an optic disc lesion consistent with optic disk coloboma.
CONCLUSIONS: Children with congenital central nervous system malformations should undergo regular ophthalmic checkups to facilitate diagnosis and determine prognosis of visual function development.

Aicardi syndrome is an X-linked-dominant genetic condition that is present almost exclusively in females. To diagnose Aicardi syndrome, the classic triad of agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae must be present. Here, we described a case of a female newborn baby delivered at 36 weeks of gestation that arrived at the emergency department with stiffening of arms and legs; therefore, an electroencephalogram was performed, showing generalized polypots confirming infantile spasms. Moreover, magnetic resonance was performed, showing complete agenesis of the corpus callosum. The patient was then transferred for an ophthalmoscopic examination, which evidenced multiple hypopigmented chorioretinal lesions corresponding to chorioretinal lacunae. Based on the clinical and radiological findings, the diagnosis of Aicardi syndrome was established, and treatment with anticonvulsive therapy and physiotherapy was initiated. This case report highlights the main characteristics that clinicians should consider to suspect this rare genetic condition, emphasizing the imaging and electroencephalographic findings.

UNASSIGNED: To report a rare case of Aicardi syndrome presenting with concurrent peripheral retina nonperfusion with 360-degree neovascularization in the right eye and stalk tissue with a peripapillary fibrovascular membrane and tractional retinal detachment (TRD) in the left eye.
UNASSIGNED: A one-month-old girl was referred for an ophthalmic evaluation to confirm the diagnosis of Aicardi syndrome due to abnormal brain magnetic resonance imaging. A 360-degree circumferential peripheral avascular retina with extensive neovascularization was present in the right eye. Stalk tissue with fibrovascular proliferation causing TRD was found in the left fundus. The retina of the right eye became quiescent after completing peripheral laser photocoagulation. The detached retina in the left eye was flattened, and the peripapillary chorioretinal lacunae became visible one year after surgical removal of the traction. In addition, the axial length growth of the left eye regained.
UNASSIGNED: This is a rare case of Aicardi syndrome with concurrent peripapillary fibrovascular traction in one eye and peripheral retina nonperfusion in the other eye. Surgical intervention is vital not only for removing the traction and flattening the retina but also for promoting continual growth of the eyeball.

To characterize a suggestive prenatal imaging pattern of Aicardi syndrome using ultrasound and MR imaging.
Based on a retrospective international series of Aicardi syndrome cases from tertiary centers encountered over a 20-year period (2000-2020), we investigated the frequencies of the imaging features in order to characterize an imaging pattern highly suggestive of the diagnosis.
Among 20 cases included, arachnoid cysts associated with a distortion of the interhemispheric fissure were constantly encountered associated with complete or partial agenesis of the corpus callosum (19/20, 95%). This triad in the presence of other CNS disorganization, such as polymicrogyria (16/17, 94%), heterotopias (15/17, 88%), ventriculomegaly (14/20, 70%), cerebral asymmetry [14/20, 70%]) and less frequently extra-CNS anomaly (ocular anomalies [7/11, 64%], costal/vertebral segmentation defect [4/20, 20%]) represent a highly suggestive pattern of Aicardi syndrome in a female patient.
Despite absence of genetic test to confirm prenatal diagnosis of AS, this combination of CNS and extra-CNS fetal findings allows delineation of a characteristic imaging pattern of AS, especially when facing dysgenesis of the corpus callosum.

UNASSIGNED: Aicardi syndrome is an X-linked condition that is associated with multiple ophthalmic malformations. Here, we report the first published fluorescein angiography (FA) study of a morning glory optic nerve in a patient with Aicardi syndrome and contralateral persistent fetal vasculature (PFV).
UNASSIGNED: A 12-day old full-term baby girl with a normal neurological exam was referred for evaluation of microphthalmia. The posterior segment of the right eye demonstrated chorioretinal lacunae typical of Aicardi syndrome and microphthalmos with a stalk consistent with PFV. The right eye imaging could not be captured due to the severe microphthalmos and cataract, however, fluorescein angioscopy was performed. The left eye demonstrated a morning glory appearing optic disc with peripapillary chorioretinal lacunae. Fluorescein angiography of the eye showed and late staining in the areas of ellipsoid chorioretinal lacunae emanating from the optic nerve and extensive peripapillary staining and late leakage of the optic nerve.
UNASSIGNED: Patients with Aicardi syndrome can have morning glory optic nerve anomaly and PFV. Using FA under anesthesia to detect these abnormalities help in estimating the extend of the disease and its complications, which allows for better management of the complications.

Aicardi syndrome is a severe neurodevelopmental disorder that occurs primarily in females and is characterized by seizures, agenesis of the corpus callosum, and chorioretinal lacunae, which occur together in the majority of affected individuals. Seizures begin in infancy and tend to progress in intensity and are often refractory to standard multimodal medication treatments.
We present here a unique case of a 12-year-old girl with partial agenesis of the corpus callosum who underwent a corpus callosotomy for treatment of medically refractory epilepsy. In so doing, we also review the literature with regard to the neurosurgical management of these unique patients.
For the subset of children who present with partial, rather than complete, agenesis of the corpus callosum, corpus callosotomy should be considered as a treatment option to reduce seizure burden.

Choroid plexus papillomas (CPPs) are rare, benign tumors that can arise in young children. Most pediatric patients present with signs of hydrocephalus and require immediate treatment. The natural history of choroid plexus tumors in children without hydrocephalus is poorly defined. In this report, the authors present the very rare case of a child without hydrocephalus but with two intraventricular choroid plexus tumors discovered shortly after birth. Initial imaging had been performed for seizures and showed agenesis of the corpus callosum and enhancing tumors in the third and left lateral ventricles. Sequential imaging demonstrated rapid growth of both tumors. The lateral tumor was removed when the child was 3 months of age. A histological examination of the specimen showed benign features with an elevated mitotic rate. Given the patient\'s age of under 3 years, the diagnosis was WHO grade I CPP. The third ventricle tumor grew rapidly. A second surgery was performed and this tumor was resected. Again, the pathological diagnosis was WHO grade I CPP. The authors present this rare case and discuss the current relevant literature.