Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome

Abstract

Aicardi syndrome is an X-linked dominant disorder characterized by the pathognonomic association of three clinical signs: agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae. This is a severe syndrome with an estimated survival rate of 76% at 6 years and 40% at 14 years and a maximum developmental level like a 12-month-old baby in 91% of cases. We illustrate a case of Aicardi syndrome with bilateral, small chorioretinal lacunae, infantile spasms with a typical hypsarrhythmia, defects of thoracic vertebra and bilateral absence of the 12th rib associated with an arachnoid cyst of the quadrigeminal cistern, and presence of the corpus callosum with a favorable outcome.

Prevalence and natural history of arachnoid cysts in adults

“…Recent examples include cases of arachnoid cysts found in patients with intracranial aneurysms, 82 Langerhans cell histiocytosis, 92 parkinsonism, 89 panic disorder, 17 personality disorders, 9 conversion disorder, 19 depression, 11 psychosis, 44,53 and coital headache. 46 Individual case reports have also attempted to suggest a connection between arachnoid cysts and various syndromes such as Kabuki syndrome, 13,47 Chudley-McCullough syndrome, 96 oculoectodermal syndrome, 59 Apert syndrome, 103 Sturge-Weber syndrome, 26 Usher syndrome, 18 Aicardi syndrome, 16 Proteus syndrome, 5 neurofibromatosis, 61 Marfan syndrome, 95 and undefined syndromes including undescended testes 83 and absence of the tibia. 40 Since arachnoid cysts are common, these reports of patients with cysts in association with any of these syndromes do nothing to prove anything more than a coincidental association.…”

Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis

“…To date, in the few sporadic fetal AIC cases reported in literature, iuMRI illustrated only the main features of the syndrome, such as callosal dysgenesis-agenesis, ventriculomegaly, and cortical malformations 9 ; only in few case reports, cysts and nodular heterotopias were also described. 7,8,10 In our nine AIC cases, iuMRI demonstrated even at early fetal life the main anomalies described in the syndrome (callosal agenesisdysgenesis, cysts, gyration anomalies, and nodular heterotopias) and moreover highlighted the following findings: ocular coloboma, posterior fossa abnormalities, and basal ganglia dysmorphisms. Although minor callosal anomaly or normal CC have been described in some AIC cases, 18,19 all our fetal cases presented with partial or complete CC agenesis.…”

“…4 Intrauterine magnetic resonance imaging (iuMRI) has become a powerful diagnostic tool to detect fetal malformations, even at early gestational age (GA), 5,6 though the prenatal suspect of AIC has been reported at least in few anecdotal cases. [7][8][9][10] Considering the lack of consistent and extensive data about the prenatal imaging presentation of the syndrome, we aimed to describe a relatively large cohort of clinically confirmed AIC patients, in a relative brain iuMRI presentation of the syndrome, also comparing the prenatal findings with the postnatal ones. Moreover, a retrospective revision of brain iuMRIs of a large group of fetuses with CC dygenesisagenesis and cortical malformations (AIC mimickers) was performed and compared in consensus with AIC iuMRI cases in order to identify among them, the neuroradiological findings potentially predicting AIC and so differentiating the syndrome from similar fetal conditions.…”

Neuroendoscopic Approach to Quadrigeminal Cistern Arachnoid Cysts

“…According to Almeida et al, 79 cases were reported in the literature up to 2008 [2]. A Pubmed search revealed 38 new cases since then [5][6][7][8][9][10][11][12][13][14].…”

“…With the extent of the indications for ventricular endoscopy, the neuroendoscopic approach to quadrigeminal cysts has gained increasing acceptance. Several authors have reported cases [1,4,5,[9][10][11][12][15][16][17][18][19][20] or series [3,5,13] of neuroendoscopic quadrigeminal cyst treatment.…”