Aicardi Syndrome

Aicardi Syndrome is a rare life-threatening disorder that mainly affects girl children around the world. Read and know all about the causes, symptoms, diagnosis and treatment of this disorder.

Aicardi Syndrome Definition

Medical professionals define Aicardi Syndrome as a rare genetic disorder present mainly among females. It is differentiated by a lack of Corpus Callosum, a part of the skull present between the right and the left side of the brain. It is this section that is responsible for the internal communication between the two sides of the brain. Infantile spasms and lacunae of the eye also help characterize this type of disease. Common brain disorders, such as Microcephaly and enlarged ventrides or porencephalic cysts, also help distinguish this medical condition. As defined in medical theories, this genetic malfunction is caused by a deficiency of the X Chromosomes and is common among girls.  This disease is also found in boys who suffer with Klinefelter’s syndrome.

Aicardi Syndrome ICD9 Code

Picture of Aicardi Syndrome

Picture 1 – Aicardi Syndrome

The ICD 9code for this disorder is 742.2.

Aicardi Syndrome Causes

The accurate etiology of this syndrome is not known. The exact cause of the occurrence of this disease is not clear. According to medical experts, however, the only causative factor for this disorder is genetic malfunction associated with the X chromosome. The symptoms are visible in females especially after 4-6 weeks of their birth. Direct contact of utero with toxins, infections and mild hypoxia may lead to sudden mental dysfunction.

Aicardi Syndrome Symptoms

Children suffering from this syndrome exhibit multiple symptoms, such as:

  • Sores on the retina. These are primary symptoms of this syndrome and help confirm its diagnosis.
  • Typical infant seizure, which initiates during early childhood.
  • Severely retarded mental growth
  • Delayed development
  • Skeletal or brain deformities

The characteristic deformities of this disorder are manifested in the eyes, brain and spine. These include:


  • Eyelid squeezing
  • Coloboma
  • Funnel-shaped disks
  • Microphthalmia
  • Absent pupillary reflexes
  • Chonioretinopathy
  • Spina Bifida
  • Hemivertebrae
  • Scoliosis
  • Unusual costovertebral articulation
  • Block vertebrae


  • Colpocephaly
  • Unevenness of cerebral hemispheres
  • Choroid plexus carcinoma  (CPC)
  • Cerebellar hypoplasia
  • Agenesis of the corpus callosum
  • Intracranial cysts
  • Grey matter heterotopia
  • Horoid plexus papilloma
  • Posterior fossa cyst
  • Tectal enlargement


Aicardi Syndrome Diagnosis

This condition occurs mostly among children. It is usually detected when seizures, characteristic of this disorder, starts at the age of 3 months. This disease is diagnosed when patients display symptoms like:

  • Absence of Corpus Callosum, that is responsible for connecting the two fractions of the brain to transmit information.
  • Seizures
  • Injury of the retina

To diagnose this medical condition, following tests can be conducted:

  • MRI
  • EEG
  • Eye exam
  • CT Scan of the head

There are also a few other medical tests that can be conducted depending on the intensity of the disease.

Aicardi Syndrome Treatment

Treatment of this medical disorder includes intervention programs for delayed growths and proper seizures. Hydrocephalus, porencephalic cysts and gastro-intestinal problems are some other problems arising due to this disorder. With the help of endoscopic fenestration of the cysts or through shunt hydrocephalus and porencephalic can be cured. Treatment for gastro-intestinal problems includes placement of a feeding tube, surgeries to cure hernias and fundoplication.

Aicardi Syndrome Prognosis

The outcome of this disorder depends on the intensity of its symptoms and the present health condition of the patient. Almost every child affected with this disorder experience learning difficulties and is entirely dependent on adults, mainly his or her parents. But a few patients show certain degree of capability with language. Some affected individuals may also walk without any support.

Aicardi Syndrome Research

Image of Aicardi Syndrome

Picture 2 – Aicardi Syndrome Image

The National Institute of Neurological Disorders and Stroke (NINDS) conducts and supports research programs on various neurogenetic diseases, such as Aicardi syndrome. Such type of research mainly aims at detecting the genes responsible for this ailment and draw out techniques to prevent, treat, diagnose and cure this disorder.

Aicardi Syndrome Complications

Early death is common among sufferers of this disorder. This is generally caused by pneumonia. The complications for this syndrome increased morbidity of conditions such as diabetes, hypertension and infections. The complications may worsen and Choroid Plexus Papillomas may lead to prominent hydrocephalus. Sometimes, even death may occur due to this disorder.

If you suspect your child to be displaying symptoms of this disorder, get in touch with your healthcare provider on an immediate basis. In case of seizure or spasms, seek emergency medical care. If timely diagnosed and treated, the condition can be managed well and patients may have a more or less normal life.

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