Aicardi syndrome
A genetic disorder characterized by the partial or complete agenesis (absence) of the corpus callosum (the structure that links the 2 hemispheres of the brain), infantile spasms (a characteristic form of childhood seizures), mental retardation, and an ocular (eye) abnormality called chorioretinal lacunae in which there are lacunae (holes) in the retina of the eye. Aicardi syndrome may be associated with other brain defects such as microcephaly (small brain) or porencephalic cysts (cerebrospinal fluid-filled cavities or gaps in the brain). Features associated with Aicardi syndrome include cleft lip and/or palate, fatty tumors (lipomas) of the scalp, blood vessel malformations (cavernous hemangiomas), rib and vertebral defects and scoliosis (curved spine). The genetics of Aicardi syndrome are extraordinary. The disorder affects only females. It is an X-linked dominant trait lethal in males. In a hemizygous male (whose only X chromosome contains the Aicardi gene), the Aicardi gene is fatal before birth. In a heterozygous female (with the Aicardi gene on one of her two X chromosomes), the Aicardi gene causes Aicardi syndrome. The Aicardi gene has been charted to the short (p) arm of the X chromosome and is in band Xp22. There is no cure for Aicardi syndrome. Nor is there a standard course of treatment. Treatment is purely symptomatic. It generally involves management of seizures and programs for the mental retardation. The prognosis for individuals with Aicardi syndrome varies according to the presence and severity of symptoms.

* * *

a syndrome caused by abnormal development of the brain in which the two halves of the brain do not connect. The corpus callosum is absent. Affected individuals suffer from mental retardation and seizures. They may also have associated abnormalities of the eyes and spine.
J. D. Aicardi (20th century), French neurologist

* * *

Ai·car·di syndrome (ĕ-kahr-deґ) [J. Aicardi, French neurologist, 20th century] see under syndrome.

Medical dictionary. 2011.

Look at other dictionaries:

  • Aicardi syndrome — is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms. Aicardi… …   Wikipedia

  • Aicardi syndrome — Aicardi syndrome. См. синдром Экарди. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Aicardi syndrome — a syndrome caused by abnormal development of the brain in which the two halves of the brain do not connect. The corpus callosum is absent. Affected individuals suffer from mental retardation and seizures. They may also have associated… …   The new mediacal dictionary

  • Syndrome d'Aicardi — Référence MIM 304050 Transmission Dominante liée à l X Chromosome X Mutation de novo Très probable Nombre de cas 188 cas connus en Europe et U,S,A …   Wikipédia en Français

  • Aicardi-Syndrom — Klassifikation nach ICD 10 Q04.0 Angeborene Fehlbildungen des Corpus callosum Agenesie des Corpus callosum …   Deutsch Wikipedia

  • Aicardi–Goutières syndrome — Aicardi Goutières syndrome Classification and external resources OMIM 225750 DiseasesDB 31680 GeneReviews …   Wikipedia

  • Syndrome d'Aicardi-Goutières — Référence MIM 225750 Transmission Récessive Chromosome 3p21 13q14 q21 Empreinte parentale Non Nombre de cas 80 casUNIQ2ae7f …   Wikipédia en Français

  • Syndrome d'Aicardi-Goutieres — Syndrome d Aicardi Goutières Syndrome d Aicardi Goutières Autre nom Encéphalopathie ganglion basal calcification Référence MIM …   Wikipédia en Français

  • Syndrome d'aicardi-goutières — Autre nom Encéphalopathie ganglion basal calcification Référence MIM …   Wikipédia en Français

  • Syndrome de west — Le syndrome de West, aussi connu sous le nom de spasmes infantiles, est une forme rare d épilepsie du nourrisson. Nommé d après le docteur anglais, William James West (1793 1848), qui le premier en a fait la description dans un article publié… …   Wikipédia en Français

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”