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Aicardi Syndrome - Causes, Clinical Features, Diagnosis and Treatment

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Aicardi Syndrome - Causes, Clinical Features, Diagnosis and Treatment

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Aicardi syndrome is a rare and severe condition present from the time of birth (congenital). To learn about the syndrome in detail, read the article below.

Written by

Dr. Gayathri P

Medically reviewed by

Dr. Abhishek Juneja

Published At July 20, 2022
Reviewed AtDecember 1, 2023

Introduction:

Aicardi syndrome is a neurological disorder that mainly affects the girl child. It is also referred to as the agenesis of the corpus callosum with chorioretinal abnormality. It is found to occur in one in every 100,000 live births. Very rarely, males may get affected by Aicardi syndrome.

What Is Aicardi Syndrome?

Aicardi syndrome is a genetic condition that affects the formation of the structure (corpus callosum) that joins the left side of the brain to the right side. The corpus callosum may be either partially formed or completely absent. Aicardi syndrome causes deformities in the brain, eyes, and other body parts and other developmental disturbances.

What Causes Aicardi Syndrome?

The main causative factor of Aicardi syndrome is unknown. Typically, every individual has 23 pairs of chromosomes. Of 22 pairs are growth chromosomes, one pair is sex chromosomes (X and Y). Females possess two X chromosomes, and males have one X, and one Y. Changes in the genes on these X chromosomes cause Aicardi syndrome. It occurs due to new mutations in the genes on the X chromosome in newborns. It does not affect other family members or get acquired from parents.

What Are the Clinical Features?

The various signs and symptoms of Aicardi syndrome are as follows:

Brain Abnormalities:

  • The corpus callosum that connects the right and left halves of the brain is malformed or absent.

  • The brain's two halves do not look similar in size and structure.

  • The formation of cysts in the brain and other vascular abnormalities occurs.

  • The fluid-filled sacs (ventricles) of the brain get enlarged, referred to as hydrocephalus.

  • The folds (bumps) and grooves usually present on the brain's surface are reduced in number in patients with Aicardi syndrome.

Muscular Deformities:

  • It causes jerking of the entire body, sudden stiffening of the muscles, and bending of the arms, legs, and head either forward or backward. The classical feature is the "infantile spasms" that are episodic, and the infants are usually awake during this attack. The seizures develop during the first few months to four years of age. Later, the children may acquire generalized or partial seizures that are more severe.

  • Weakening of the muscles (hypotonia).

  • Tightening of the muscles is also observed.

  • Difficulty in coordination and movement of muscles.

Eye Defects:

  • Another classical sign of Aicardi syndrome is the presence of black holes in the inner layer of the eye or retina. It is referred to as chorioretinal lacunae, and it occurs due to improper development of the corpus callosum.

  • One or both eyes may look smaller (microphthalmia).

  • A defect that occurs in the optic nerve is called coloboma. It can even lead to blindness.

Bone Deformities:

  • Abnormal curving (scoliosis) of the spine is observed.

  • Abnormalities in the rib bone.

Facial Deformities:

  • Shortening of space between the nose and upper lip.

  • Split or opening in the lips and palate of the oral cavity is also found during birth.

  • Large ears.

  • Flat nose.

  • Thinning eyebrows.

  • The baby's head looks smaller than the average size, which is called microcephaly.

Developmental Disturbances:

  • The growth and development are delayed.

  • Intellectual disabilities are widely seen in patients.

  • Delayed maturity (puberty) in a few children occurs too early. As a result, intellectual disabilities are also observed.

Other Disturbances Include:

  • Diarrhea.

  • Constipation.

  • Acid reflux.

  • Feeding issues.

  • Respiratory infections are also observed in a few infants.

How to Diagnose Aicardi Syndrome?

The various methods involved in the diagnosis:

  • Magnetic resonance imaging (MRI) identifies swelling, cysts, and brain structure abnormalities.

  • Computed tomography (CT) scan of the brain also helps find blood clots, cysts, and other vascular abnormalities.

  • An eye examination is done to detect retina abnormalities and other vision problems.

  • Electroencephalography (EEG) is done to see any changes in brain activity and also aids in diagnosing seizures.

  • Prenatal ultrasound is done to detect any abnormalities in the brain tissue when the fetus is in the mother's womb.

What Is the Differential Diagnosis?

The diseases that are similar to Aicardi syndrome are as follows:

  • Microcephaly with or without mental retardation and chorioretinopathy is a condition that affects newborns. The distinguishing feature is the large head size and the absence of corpus callosum defects of the brain in individuals with this condition.

  • Oculocerebrocutaneous syndrome is a rare disorder that affects the skin, eye, and brain. It also has similar features like small eyes, cysts in the brain, colobomas, and abnormal spine curving.

  • Neuronal migration disorder is also a congenital (by-birth) disability that affects the brain's functional units (neurons). Its characteristic features are seizures, developmental delays, small head, and feeding problems.

How Is Aicardi Syndrome Treated?

  • Seizure in infants is a great challenge for doctors to control, as it needs more trials of drugs to check the most efficient ones.

  • Speech and language therapy can be given.

  • Other physical therapies are provided to improve muscular activities and prevent further complications.

  • Vaccination can be given to prevent respiratory infections, as it is a significant complication in early childhood.

  • A diet (keto-diet) rich in fats and low in carbohydrates is suggested in children to increase calorie levels. But it has to be monitored carefully.

  • A vagus nerve stimulator is an implantable device that triggers the vagus nerve, thereby improving the activity of the brain and controlling seizures.

  • Medications are given to treat diarrhea, acid reflux, and other gastrointestinal disturbances.

Conclusion:

Children with Aicardi syndrome have symptoms with varying intensity. In a few children, the symptoms are manageable, while it may look serious in others. It is the principal responsibility of the doctor and caretaker to coordinate the well-being of the children.

Frequently Asked Questions

1.

Can a Person Walk With Aicardi Syndrome?

Aicardi syndrome is a neurological disorder that mainly affects the girl child. It is also referred to as the agenesis of the corpus callosum with chorioretinal abnormality and yes, a person is able to walk with Aicardi syndrome.

2.

Who Are Prone to Developing Aicardi Syndrome?

Every individual has 23 pairs of chromosomes. Of 22 pairs are growth chromosomes, one pair is sex chromosomes. Changes in the genes on these X chromosomes cause Aicardi syndrome. It occurs due to new mutations in the genes on the X chromosome in newborns. It does not affect other family members or get acquired from parents.

3.

How to Treat Aicardi Syndrome?

- Speech and language therapy can be given.
- Other physical therapies are provided to improve muscular activities and prevent further complications.
- Vaccination can be given to prevent respiratory infections, as it is a significant complication in early childhood.
- A diet (keto-diet) rich in fats and low in carbohydrates is suggested in children to increase calorie levels. But it has to be monitored carefully.
- A vagus nerve stimulator is an implantable device that triggers the vagus nerve, thereby improving the activity of the brain and controlling seizures.
- Medications are given to treat diarrhea, acid reflux, and other gastrointestinal disturbances.

4.

Is Aicardi Syndrome Life-Threatening?

Aicardi syndrome is a rare and severe condition present from the time of birth and at times it can be life-threatening as well and thus requires immediate diagnosis.

5.

How to Diagnose Aicardi Syndrome?

- Magnetic resonance imaging (MRI) identifies swelling, cysts, and brain structure abnormalities.
- Computed tomography (CT) scan of the brain also helps find blood clots, cysts, and other vascular abnormalities.
- An eye examination is done to detect retina abnormalities and other vision problems.
- Electroencephalography (EEG) is done to see any changes in brain activity and also aids in diagnosing seizures.
- Prenatal ultrasound is done to detect any abnormalities in the brain tissue when the fetus is in the mother's womb.

6.

Is Aicardi Syndrome Recessive or Dominant?

Aicardi syndrome is a neurological disorder that mainly affects the girl child. Changes in the genes on the X chromosomes cause Aicardi syndrome and thus it is an X-linked dominant condition. It occurs due to new mutations in the genes on the X chromosome in newborns.

7.

What Is the Life Expectancy of a Person With Aicardi Syndrome?

Aicardi syndrome is a genetic condition that affects the formation of the structure that joins the left side of the brain to the right side. Aicardi syndrome causes deformities in the brain, eyes, and other body parts and other developmental disturbances with an average age of 18 years.
Dr. Abhishek Juneja
Dr. Abhishek Juneja

Neurology

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