Aicardi Syndrome: Follow-Up Investigation of Swedish Children Born in 1975-2002

Abstract

Aicardi syndrome has been defined by the triad of agenesis of the corpus callosum, early seizure onset and lacunar chorioretinopathy. In a nation-wide survey a total of 18 Swedish cases were found. Fourteen girls were re-examined by one of the authors at the ages of 1-27 years. One was seizure free following epilepsy surgery operation, 13 were drug resistant. Two were on ketogenic diet. Most of the girls had multifocal EEG discharges. All except one were severely disabled with severe mental retardation and total dependency on helpers for activities of daily life. Communication, nutrition, and motor function were severely affected areas. Visual function was difficult to evaluate because of mental retardation and lack of co-operation and varied from severely impaired to normal. In one case the appearance of the ocular fundus was documented to have changed with time. One girl was exceptional and seizure free with mild mental retardation. An update by March 2006 showed that 12/18 patients were still alive, at a median age of 13.5 years (range: 3-31 years). Six had died between the ages of 3-10 years. They had all suffered from intractable epilepsy and belonged to the most disabled group. Surprisingly two had died from malignant brain tumours.

Laterality of Brain and Ocular Lesions in Aicardi Syndrome

“…In conclusion, this study is the largest series to our knowledge of Aicardi syndrome patients with both ophthalmologic and brain MRI findings reported [22, 25, 31, 32]. These results substantiate prior smaller case series looking at ophthalmologic and brain MRI Aicardi associated lesions.…”

“…Prior studies with other recruitment methods had similar rates of ocular and brain MRI findings, suggesting that selection bias is less significant. Finally, although Aicardi associated lesions are thought to be static with time, at least one previous study documents changes in the size of fundus lesions over time with disappearance of a lacunae and development of a new retinal coloboma in one patient [31]. Colobomas are known to represent failed embryonic optic fissure closure, calling into question the validity of an observed acquired coloboma later in life.…”

Aicardi Syndrome: An Epidemiologic and Clinical Study in Norway

“…Some studies indicate that 67% to 78% of patients have daily seizures 6,7,19 or that 67% to 72% have refractory epilepsy. 10,22 In our study, four of five patients experienced a marked improvement in seizure severity. The seizure improvement with age has not been described by others.…”

“…Typical early electroencephalography (EEG) findings include evidence of asynchrony between the hemispheres, hypsarrhythmia, and burst suppression, but the reported prevalence of these findings in individuals with Aicardi syndrome has varied in previous studies. 1,[6][7][8][9][10] The etiology of Aicardi syndrome is still unknown. However, as the disorder is only observed in females and in males with chromosome 47, XXY in healthy families, it is assumed to be caused by a de novo mutation on the X chromosome and inherited in a dominant manner with hemizygous lethality in males.…”

Aicardi syndrome: epilepsy surgery as a palliative treatment option for selected patients and pathological findings

“…There is limited data on the role of resective epilepsy surgery as a treatment choice in patients with AS (Rosser et al ., ; Palmer et al ., ; Saito et al ., ). In addition, there is no information about the surgical neuropathological findings in AS.…”