Birth defects and malformations of the brain

Our skilled team of pediatric neurologists, neurosurgeons, craniofacial surgeons and plastic surgeons provides the highest quality care in complicated neurocutaneous syndromes as well as in birth defects and malformations of the brain, and we treat the largest volume of such cases on Long Island.

Because many brain defects and malformations are detected during routine fetal ultrasound, our neurologists often work in conjunction with the Northwell Health perinatal center to determine the best course of action for each family.

In our neurofibromatosis clinic, a pediatric neurologist and geneticist provide a comprehensive evaluation. For patients with complicated neurocutaneous syndromes, our multidisciplinary team at the brain and spinal cord clinic includes a pediatric neurologist, pediatric oncologist, neurosurgeon, neuroradiologist and neuropathologist to best assess your child’s needs.

In general, we use MRI for diagnostic purposes rather than CT scan to limit your child’s exposure to radiation. We have brand-new MRI suites on the top floor of Cohen Children’s Medical Center, and we have a sedation program specifically for conducting MRI on children, led by our pediatric anesthesiologist.

The most common conditions include neurofibromatosis type 1, tuberous sclerosis and Sturge-Weber syndrome. Such defects, malformations and abnormalities of the brain or skull can be mild or severe and may affect brain growth. In addition, they can affect the nervous system, skin, and other organs.

Causes & risk factors

Brain abnormalities can be caused by a variety of factors, including:

• Genetic disorders
• Injury
• Congenital abnormalities or disorders
• Syndromes
• Infections
• Environmental health problems such as malnutrition

Symptoms

Symptoms of brain abnormalities include developmental delays (speech, motor or both), atypical social behaviors, seizures, and difficulty with hearing, vision or feeding. These symptoms tend to affect quality of life.

In addition, there are skin manifestations that are specific to certain disorders. Skin symptoms of neurofibromatosis include café‐au‐lait macules, axillary and inguinal freckling, and fibromas. The condition also has other symptoms that involve the eyes, bones and brain.

Tuberous sclerosis manifests with adenoma sebaceum, ungal fibromas and other brain manifestations. It can be associated with seizures.

Sturge-Weber syndrome presents with facial port-wine nevus, seizures and developmental delays. 

Diagnosis & testing

Very often brain abnormalities occur while the fetus is still developing and are found during routine ultrasound. Other times, the defects can develop over time.

MRI is the most common diagnostic tool for brain defects and malformations in a child. The test would be performed on the brain and/or the spinal cord. Anesthesia is usually given to sedate the child during this painless procedure.

Neurocutaneous syndromes are diagnosed by physical exam and other diagnostic tests including blood tests, genetic testing, eye exam and skin lesion samples. In case of seizures that may be associated with these conditions, further testing may include EEG.

Treatment

Treatment depends on the type and extent of the condition.  Sometimes there is no treatment for abnormalities of the brain. Other times, surgery may be necessary as part of a larger issue, such as epilepsy or hydrocephalus (a condition where there is too much water in the head, causing pressure on the brain).

Treatment for birth defects, abnormalities of the brain and neurocutaneous syndromes is always geared toward the specific syndrome or issue.