Objective: to study clinical and diagnostic criteria of Aicardi syndrome in a male patient .
Material and methods: a clinical case of Aicardi syndrome in a 5 month-old 46 XY male child. Results: The boy aged 5 months came in to the hospital with complaints of serial seizures by type of infantile spasms, muscle weakness, lethargy, developmental delay. Seizures debut at age 44 days by type of flexor infantile spasms. Later focal tonic and myoclonic infantile spasms, also generalized tonic-clonic seizures joined. The anticonvulsant polytherapy was without effect.

Neurologic status. The child's condition is serious. Consciousness is violated.  There is no adequate response to the inspection. Microcephaly. Facial features: hypoplasia of the mandible, upturned nasal tip.  Muscle hypotonia. Skeletal abnormalities: hypoplasia of the fourth finger, disproportionate limbs. Severe psychomotor retardation. The examination: MRI - agenesis of the corpus callosum, ventriculomegaly, gyral anomalies. Neurosonography - agenesis of the corpus callosum,  hypoplasia septum pellucidum, choroid plexus cysts . EEG - polymorphic epileptiform activity, modified hypsarrhythmia, expressed hemispheric asymmetry. Ophthalmologist - coloboma of the optic nerve and retina . Karyotyping - male karyotype 46, XY. Genetics - not excluded Aicardi syndrome . Pulmonologist - idiopathic pulmonary fibrosis.
Conclusion . Availability of basic criteria - agenesis of the corpus callosum , infantile spasms, retina and optic nerve pathology,  as well as additional - microcephaly, ventriculomegaly, gyral anomalies, facial and skeletal abnormalities and bronchopulmonary pathology - allow us to diagnosis Aicardi syndrome in a 5 month-old 46 XY male child.