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Complete Information on Aicardi syndrome with Treatment and Prevention

By: Alicia Stock

Aicardi syndrome is an uncommon hereditary disorder, characterized by the incomplete or comprehensive absence of the system that links the two hemispheres of the mind, the corpus callosum. Aicardi syndrome simply affects females, and in really uncommon cases, males with klinefelter syndrome. It is theorized to ensue from a flaw on a x-chromosome, though until the gene is establish, this cannot be confirmed. Children are almost usually identified with Aicardi syndrome before the age of five months. The known age scope of affected children is from birth to the later forties. The spectrum of impairment within Aicardi syndrome is broad. Its hardship is to some extent determined by the extent of theunderlying mind irregularity.

Aicardi syndrome may be associated with new mind defects such as a smaller than median mind and cavities or gaps in the mind filled with cerebrospinal fluid. All cases of Aicardi syndrome are thought to be payable to original mutations. No individual with Aicardi syndrome is known to get transmitted the X-linked gene accountable for the syndrome to the next generation. The genetics of Aicardi syndrome are remarkable. There are an estimated 300-500 known cases worldwide, but the precise prevalence is unidentified. The circumstance is associated with a host of new varying manifestations. These can include abnormalities of the skeletal system of the backbone, spinal curvature, cleft mouth and palate.

Symptoms include seizures, psychological retardation and lesions on the retina of the heart that are particular to the disorder. Aicardi Syndrome may be associated with new mind defects such as a smaller than median mind and cavities or gaps in the mind filled with cerebrospinal fluid. Other symptoms that are decisive hallmarks of Aicardi syndrome include psychological retardation and growths, called lacunae, on the retina of the heart. Retinal lacunae can induce blindness. Other types of mind defects, such as microcephaly, porencephalic cysts, and expanded ventricles, may too be existing. However, in uncommon cases, one of the features, particularly lack of growth of the corpus callosum, may be missing.

There is no cure for this disorder nor is there a modular course of treatment. The combination of female sex, seizures, abnormalities with the corpus callosum, and retinal lacunae provide a definite diagnosis of Aicardi syndrome. In some cases, the corpus callosum may look normal, but other abnormal formations in the brain are present. Treatment of Aicardi syndrome primarily involves management of seizures and continuing intervention programs for developmental delays. Treatment for prencephalic cysts and hydrocephalus is often via a shunt or endoscopic fenestration of the cysts, though some require no treatment. Placement of a feeding tube, fundoplication, and surgeries to correct hernias or other gastrointestinal structural problems are sometimes used to treat gastro-intestinal issues.

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