Paula and Bobby
Parents of Lillie
Aicardi syndrome; AIC
What is Aicardi syndrome; AIC?
Aicardi syndrome; AIC is a rare disease. It is also known as AIC Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality.
This X-linked dominant condition is characterized by infantile spasms, a chorio-retinopathy which is almost distinctive in having footprint shaped lacunae, agenesis of the corpus callosum and a host of variable manifestations. These include staphyloma, coloboma of the optic nerve, microphthalmia and vertebral body anomalies such as hemivertebrae, block vertebrae, scoliosis and abnormal costovertebral articulations. Occasional cases have cleft lip and palate (Umansky et al., 1994). Menezes et al., (1994) review 14 cases, provide a good review of the literature and discuss prognostic indicators. Tsao et al., (1993) reported a case with a metastatic angiolipoma of the left leg and a scalp lipoma. These authors reviewed other cases from the literature with tumours, including single cases of hepatoblastoma, benign teratoma and embryonal carcinoma. Kiristioglu et al., (1999) reported a case with a palatal hemangioma. Trifiletti et al., (1995) reported a case with a choroid plexus papilloma and multiple gastric hyperplastic polyps. The 8 year old girl reported by Palmer et al., (2004) developed a large-cell meduloblastoma. Bromley et al., (2000) discuss prenatal diagnosis by ultrasonography in two cases. The case reported by Jageerhussain et al., (2000) had a Dandy-Walker cyst and that reported by Iturralde et al., (2006) had a normal corpus callosum. Forty females of differing ages were examined by Sutton et al., (2005). They concluded that the facial phenotype was distinctive (prominent premaxilla, upturned nasal tip, decreased angle of the nasal bridge and sparse lateral eyebrows. Twenty percent had skin lesions (multiple nevi, tags, haemangiomas). The case reported by Mutlu et al., (2006), had a pineal cyst and a VSD and that reported by Melbourne-Chambers et al., (2007) had an anterior encephalocele and a closed-lip schizencephaly. Tectal enlargement was reported by Hopkins et al., (2008) in 10 out of 23 females.
Rosser et al., (2002) carried out a retrospect questionaire study of 77 females with the condition. 91% attained milestones no higher than 12 months. Seizures were reported in 92% of patients with infantile spasms in 17%. The most common medical problems were scoliosis, constipation, gastroesophageal reflux, aspiration, pneumonia and otitis media, but overall health was perceived to be good. Do note however the case reported by Matlary et al., (2004), who was only mildly developmentally delayed, was seizure free, and had a normal EEG. There is a similar mild case reported by Vinas et al., (2005). Intelligence at 24 months was normal, an MRI showed complete absence of the corpus callosum, but no neuronal migration defects, and the punched out retinal lesions were unilateral. Median age of survival is 18.4 years (Glasmacher et al., 2007). A case with seizures but an eventual IQ of 100 was reported by Grosso et al., (2007).
The cerebral pathology is widespread and includes cortical and sub-cortical heterotopia, and papillomas of the choroid plexus. The post-mortem findings in 2 cases was reported by Van den Veyver et al., (2004). Polymicrogyria, heterotopia and intracytoplasmic eosinophilic inclusions were found.The EEG shows an asynchronous burst-suppression.
All cases to date have been female and single except for XXY males (Glasmacher et al., 2007, Chen 2010), leading to the suggestion that the inheritance is X-linked dominant with lethality in hemizygous males. A XXY male with mild learning difficulties was reported by Shetty et al., (2014). A male child with the lacunae, agenesis of the corpus callosum and lissencephaly was however reported by Aggarwal et al., (2000). Karyotype was XY. Two sisters were reported by Molina et al., (1989) and monozygotic twins by Pons and Garcia (2008). Ropers et al., (1982) described an affected girl with an apparently balanced X/3 translocation. Costa et al., (1997) reported discordant monozygotic twins. Hoag et al., (1997) reported random X-inactivation in whole blood from 10 cases. There is an excellent review of the condition by Aicardi (2005). Note the case of a lymphocytic choriomeningitis virus causing an Aicardi-like phenotype (Yu et al., 2006).
* This information is courtesy of the L M D.
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What gene changes cause Aicardi syndrome; AIC?
The syndrome is inherited in the following inheritance pattern/s:
X-Linked Dominant - With syndromes inherited in an X-linked dominant pattern, a mutation in just one of the copies of the gene causes the syndrome. This can be in one of the female X chromosomes, and in the one X chromosome males have. Males tend to have more severe symptoms than females.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 304050 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Aicardi syndrome; AIC?
The typical symptoms of the syndrome are:
Seizure, Precocious puberty, Rib fusion, Pachygyria, Partial agenesis of the corpus callosum, Nystagmus, Optic atrophy, Polymicrogyria, Plagiocephaly, Vertebral segmentation defect, Short palm, Recurrent pneumonia, Supernumerary ribs, Lipoma, Skin tags, Proximal placement of thumb, Teratoma, Prominence of the premaxilla, Vascular neoplasm, Metastatic angiosarcoma, Infantile spasms, Microcephaly, Short philtrum, Scoliosis, Spina bifida, X-linked dominant inheritance, Malabsorption, Hemivertebrae, Hemiplegia/hemiparesis, Hepatoblastoma, Hemangioma, Hypertonia, Cognitive impairment, Postnatal growth retardation, Hiatus hernia, Gray matter heterotopia, Abnormality of neuronal migration, Anteverted nares, Malar prominence, Multiple lipomas, Microphthalmia, Muscular hypotonia, Missing ribs, Intestinal polyposis, Sparse lateral eyebrow, Intellectual disability, profound, Retinal detachment, Cleft upper lip, Chorioretinal coloboma, Constipation, Dilation of lateral ventricles, Epileptic spasm, EEG abnormality, Dilate
How does someone get tested for Aicardi syndrome; AIC?
The initial testing for Aicardi syndrome; AIC can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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