Aicardi syndrome: a case report

Abstract

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.

A Neurocirurgia E Genética Da Síndrome De Aicardi-Goutières: Uma Revisão De Literatura

“…A SAG possui como sua taxa de incidência de 1:105.000 nascimentos (PEDRI; GUEDES; CASTRO, 2022), de acordo com Menezes et al, (2018) a SAG se manifesta geralmente como caso isolado na família, considerada uma síndrome neuropatológica rara, com incidência de 1%, em relação a irmãs gêmeas dizigóticas, há a afecção de uma irmã somente, enquanto no Brasil foi estimada a probabilidade de sobrevivência até aos 27 anos de 0,62%, enquanto a idade de 49 anos a idade mais longa relatada.…”