Aicardi syndrome: case report

Case presentation: M. V. S. R, female, 10 months, post-term, Apgar 6/8, requiring resuscitation at birth, was referred to a pediatric neurologist due to delay in neuropsychomotor development, with difficulty in fixing the gaze since birth, hypotonia of lower limbs, repetitive movements, lack of cervical support and ankyloglossia. The patient also previously suffered two episodes of tonic-clonic seizures. On physical examination a frontal bone bulge, occipital flattening, unfixed convergent bilateral strabismus was noticed. Transfontanellar ultrasound showed corpus callosum dysgenesis and subsequent magnetic resonance imaging confirmed the complete agenesis of the corpus callosum with no other alterations. It was not possible to perform an electroencephalogram. At ophthalmologic consultation bilateral optic disc coloboma was signed. Aicardi Syndrome was suspected. The patient was referred to multidisciplinary follow-up, with physical, speech and psychological therapy showing improvement in neuropsychomotor development.

Discussion: Aicardi Syndrome was initially described as a typical triad of agenesis of the corpus callosum, typical chorioretinal lacunae and infantile spasms. With the study of new cases other clinical patterns were also identified: seizures, cognitive and language alterations, impairment in walking or sitting, optic disc abnormalities, costovertebral joint fusion and hypotonia. In the aforementioned case, the diagnostic hypothesis of Aicardi Syndrome is of high suspicion. The patient presented the classic triad of Aicardi Syndrome. It was also possible to observe other characteristic alterations, such as delay in neuropsychomotor development, hypotonia of the lower limbs and absence of cervical support. The case studied is in line with the treatment established to date which prioritize the management of clinical manifestations, such as multidisciplinary support for neuropsychomotor delay, antiepileptic drugs and ophthalmic follow up. In this case, improvement was seen with multidisciplinary intervention.

Final comments: The singularity of the reported case is emphasized as it brings to light the diagnostic hypothesis of Aicardi Syndrome, a rare genetic condition with neuroretinal affection, that requires a multidisciplinary approach and individualized support treatment to improve survival and quality of life.

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
18 September 2023