Aicardi syndrome

(redirected from Agenesis of Corpus Callosum)

Ai·car·di syn·drome

(ă-kahr-dē'), [MIM*304050]
an X-linked dominant disorder with lethality in hemizygous males; characterized by agenesis of corpus collosum, chorioretinal abnormality with "holes," cleft lip with or without cleft palate, seizures, and characteristic EEG changes.

Aicardi Syndrome

An X-linked condition of early onset (before 5 months of age), which is characterised by seizures, spasms, mental retardation, muscular hypotonicity and lacunar retinal defects. The defect maps to the AIC locus on chromosome Xp22, in the region which encodes steroid sulfatase. It affects girls and boys with Klinefelter Syndrome.

Ai·car·di syn·drome

(ī-kahr'dē sin'drōm)
An X-linked dominant disorder with lethality in hemizygous males; characterized by agenesis of corpus callosum, chorioretinal abnormality with "holes," cleft lip with or without cleft palate, seizures, and characteristic EEG changes.

Aicardi,

Jean Dennis, French neurologist, 1924–.
Aicardi syndrome - agenesis of the corpus callosum with infantile spasms in female babies.

Ai·car·di syn·drome

(ī-kahr'dē sin'drōm) [MIM*304050]
X-linked dominant disorder lethal in hemizygous males; characterized by agenesis of cor-pus callosum, chorioretinal abnormality with "holes," cleft lip with or without cleft palate, seizures, and characteristic electroencephalographic changes.
References in periodicals archive ?
Early onset schizophrenia and partial agenesis of corpus callosum. Archives de pediatrie 2011;18(2):189-92.
Foetal Magnetic Resonance Imaging (MRI) was recommended to rule out agenesis of corpus callosum. Antenatal MRI was performed at 29 weeks gestation which revealed an extra-axial mass measuring 35.9 x 30.7 x 34 mm having compression effect over midbrain and medulla with no evidence of hydrocephalus.
As congenital anomalies, she presents agenesis of corpus callosum and an inguinal hernia.
Major radiological diagnosis was leukodystrophy in 30% patients followed by cerebral atrophy in 16% patients, congenital malformation (agenesis of corpus callosum, hydrocephalus, dandy walker variant, cerebral aqueduct stenosis etc) in 15% patients and nonspecific findings (basal ganglia calcifications, arachnoid cysts, hemorrhagic infarct) in 6% patients.
Stip, "Agenesis of corpus callosum and emotional information processing in schizophrenia," Front Psychiatry, vol.
The following structures were analyzed: size of lateral ventricles, loss of white matter, corpus callosum, thinning of corpus callosum, agenesis of corpus callosum, cerebellum, brain stem, and abnormalities of cortical gray matter.
On MRI there is a hypointense mass on T1 and T2 -weighted sequences and it appears hypointense on FS (fat saturated) sequences.14 Most intracranial lipomas occur in the midline in the region of the corpus callosum (45%), the ambient cistern and suprasellar region (23%).1,6 These lesions are frequently associated with hypogenesis or agenesis of corpus callosum.4 Intracerebral vessels and cranial nerves may cross through the mass.1 Similarly our case showed that anterior cerebral arteries were crossing through the mass and giving its branches within the lipoma, visualized by contrast enhanced MRI images.
Kim Peek, who suffered from a condition similar to autism - Agenesis of Corpus Callosum - was thanked by Dustin Hoffman in his Best Actor acceptance speech, while film-writer Barry Morrow also acknowledged him.
NORMAL MRI: Compare with the patient's MRI, which demonstrates agenesis of corpus callosum (CC) and absence of septum pellucidum on coronal view (see on right).
There were 3 more cases, each afflicted from partial agenesis of corpus callosum, granuloma and associated myelomeningocele respectively.