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</div><div><span>Aicardi syndrome</span></div></div>
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<article><div id="d-article"><div class="page-info"><div class="page-title"><a name="start" id="start">
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</a><h1 class="with-also" itemprop="name">Aicardi syndrome</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Aicardi syndrome is a rare disorder. In this condition, the structure that connects the two sides of the brain (called the corpus callosum) is partly or completely missing. Nearly all known cases occur in people with no history of the disorder in their family (sporadic).</p></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Causes</h2></div><div class="section-button"><button type="submit" aria-controls="section-1" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-1"><p>The cause of Aicardi syndrome is unknown at this time. In some cases, experts believe it may be a result of a gene defect on the <a test="test" href="./002327.htm">X chromosome</a>.</p><p>The disorder affects only girls.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Symptoms</h2></div><div class="section-button"><button type="submit" aria-controls="section-2" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-2"><p>Symptoms most often start when the child is between ages 3 and 5 months. The condition causes jerking (infantile spasms), a type of childhood seizure.</p><p>Aicardi syndrome may occur with other brain defects.</p><p>Other symptoms may include:</p><ul><li><a test="test" href="./003318.htm">Coloboma</a> (cat's eye)</li><li><a test="test" href="./001523.htm">Intellectual disability</a></li><li>Smaller-than-normal eyes (microphthalmia) </li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Exams and Tests</h2></div><div class="section-button"><button type="submit" aria-controls="section-3" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-3"><p>Children are diagnosed with Aicardi syndrome if they meet the following criteria:</p><ul><li>Corpus callosum that is partly or completely missing</li><li>Female sex</li><li><a test="test" href="./003200.htm">Seizures</a> (typically beginning as infantile spasms)</li><li>Sores on the retina (retinal lesions) or optic nerve </li></ul><p>In rare cases, one of these features may be missing (especially lack of development of the corpus callosum).</p><p>Tests to diagnose Aicardi syndrome include:</p><ul><li><a test="test" href="./003786.htm">CT scan of the head</a></li><li><a test="test" href="./003931.htm">EEG</a></li><li>Eye exam</li><li><a test="test" href="./003335.htm">MRI</a></li></ul><p>Other procedures and tests may be done, depending on the person.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Treatment</h2></div><div class="section-button"><button type="submit" aria-controls="section-4" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-4"><p>Treatment is done to help prevent symptoms. It involves managing seizures and any other health concerns. Treatment uses programs to help the family and child cope with delays in development.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Support Groups</h2></div><div class="section-button"><button type="submit" aria-controls="section-5" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-5"><p>Aicardi Syndrome Foundation -- <a class="extln" target="_blank" href="https://aicardisyndromefoundation.org/">aicardisyndromefoundation.org/</a></p><p>National Organization for Rare Disorders (NORD) -- <a class="extln" target="_blank" href="https://rarediseases.org">rarediseases.org</a></p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Outlook (Prognosis)</h2></div><div class="section-button"><button type="submit" aria-controls="section-6" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-6"><p>The outlook depends on how severe the symptoms are and what other health conditions are present.</p><p>Nearly all children with this syndrome have severe learning difficulties and remain completely dependent on others. However, a few have some language abilities and some can walk on their own or with support. Vision varies from normal to blind.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Possible Complications</h2></div><div class="section-button"><button type="submit" aria-controls="section-7" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-7"><p>Complications depend on the severity of symptoms.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>When to Contact a Medical Professional</h2></div><div class="section-button"><button type="submit" aria-controls="section-8" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-8"><p>Contact your health care provider if your child has symptoms of Aicardi syndrome. Seek emergency care if the infant is having spasms or a seizure.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Alternative Names</h2></div><div class="section-button"><button type="submit" aria-controls="section-Alt" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Alt"><p>Agenesis of corpus callosum with chorioretinal abnormality; Agenesis of corpus callosum with infantile spasms and ocular abnormalities; Callosal agenesis and ocular abnormalities; Chorioretinal anomalies with ACC</p></div></div></section><section><div class="section sec-mb"><div class="section-header"><div class="section-title"><h2>Images</h2></div><div class="section-button"><button type="submit" aria-controls="section-tnails" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/8753t.jpg" alt="Corpus callosum of the brain" title="Corpus callosum of the brain" class="side-img"/><a href="../imagepages/8753.htm">Corpus callosum of the brain</a></li>
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</ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>References</h2></div><div class="section-button"><button type="submit" aria-controls="section-Ref" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Ref"><p>American Academy of Ophthalmology website. Aicardi syndrome. <a href="https://www.aao.org/pediatric-center-detail/neuro-ophthalmology-aicardi-syndrome" target="_blank">www.aao.org/pediatric-center-detail/neuro-ophthalmology-aicardi-syndrome</a>. Updated September 2, 2020. Accessed October 25, 2022.</p><p>Kinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. <em>Nelson Textbook of Pediatrics</em>. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 609.</p><p>Samat HB, Flores-Samat L. Developmental disorders of the nervous system. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. <em>Bradley and Daroff's Neurology in Clinical Practice</em>. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 89.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 7/28/2022</h2></div><div class="section-button"><button type="submit" aria-controls="section-version" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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