Aicardi syndrome associated with anterior cephalocele in a female infant

Abstract

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.

Morning Glory Disc Anomaly in childhood – a population‐based study

“…A patient presenting with MGDA and PHACES or Aicardi syndrome may perform differently in neurological tests compared to a patient with isolated MGDA, as suggested by the complications seen in these disorders (Melbourne‐Chambers et al. ; Puvanachandra et al. ).…”

“…As the range of severity in disorders connected with MGDA is large, it is logical to infer that there exists a vast heterogeneity in neurological outcomes. A patient presenting with MGDA and PHACES or Aicardi syndrome may perform differently in neurological tests compared to a patient with isolated MGDA, as suggested by the complications seen in these disorders (Melbourne-Chambers et al 2007;Puvanachandra et al 2008). On the other hand, comorbidity in the current study was not associated with a pathological neurological score, possibly due to the small patient sample.…”

“…MGDA has been observed in Aicardi syndrome (Melbourne‐Chambers et al. ), neurofibromatosis type 2 (Brodsky et al. ), Chiari malformation Type 1 (Razeghinejad & Masoumpour ), basal encephalocele (Lee & Traboulsi ) and the neurocutaneous disorder PHACES, which is an acronym for posterior fossa abnormalities, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities and sternal cleft and supraumbilical raphe syndrome (Kniestedt et al.…”

“…The exact pathogenesis of MGDA remains unknown, but it has been related to poor development of the posterior sclera and lamina cribrosa during gestation (Lee & Traboulsi 2008). MGDA has been observed in Aicardi syndrome (Melbourne-Chambers et al 2007), neurofibromatosis type 2 (Brodsky et al 1999), Chiari malformation Type 1 (Razeghinejad & Masoumpour 2006), basal encephalocele (Lee & Traboulsi 2008) and the neurocutaneous disorder PHACES, which is an acronym for posterior fossa abnormalities, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities and sternal cleft and supraumbilical raphe syndrome (Kniestedt et al 2004). Furthermore, MGDA has been observed together with other cerebrovascular anomalies, including Moyamoya disease (Lee & Traboulsi 2008).…”

Morning glory syndrome associated with vascular anomaly-hypoplasia of the left common carotid artery

“…In his study, 45% patients with morning glory disc were associated with cerebro-vascular anomalies ranged from agenesis of the A1 segment of the anterior cerebral artery to bilateral stenosis of the internal carotid arteries with moyamoya disease. R Melbourne-Chambers et al [10] recently described a case report of Aicardi syndrome with anterior cephalocoele and morning disc anomaly. Quah et al [11] described a case of morning glory disc syndrome associated with abnormal carotid circulation.…”