Neurocutaneous syndrome (NCS) is a group of disorders that involve the central nervous system, the organs, skin, and bones. It affects people of all ages but is most often seen in children. These disorders are caused by mutations in certain genes that disrupt normal development. NCS usually affects multiple body systems and may cause intellectual disability, seizures, and physical features such as growth delays, birthmarks, and skin abnormalities.
NCS is often referred to as phakomatoses or neuroectodermal syndromes. It is divided into three main types:
Tuberous Sclerosis - A genetic disorder that causes benign (non-cancerous) tumors to develop in different body parts.
Neurofibromatosis - Tumors of the brain, spinal cord, and nerve, including NF1 (Neurofibromatosis-1), Neurofibromatosis-2 (NF2), and Schwannomatosis.
Sturge-Weber Syndrome - A genetic disorder that affects the blood supply to a certain brain area.
What Causes Neurocutaneous Syndrome?
Genetic mutations cause neurocutaneous syndromes. These mutations may be passed down from a parent or spontaneous mutation. Many neurocutaneous syndromes are caused by mutations in genes that affect cell division, metabolism, or the structure of tissues. Some neurocutaneous syndromes are caused by mutations in genes that play a role in the growth and development of the brain, spinal cord, or organs.
The effects of these genetic mutations may differ from one person to the next depending on the type of mutation and the gene affected. It should be noted that not all neurocutaneous syndromes are genetic. For example, Sturge-Weber syndrome is caused by a change in blood vessels in the brain and is not linked to any genetic mutation.
What Are the Symptoms of Neurocutaneous Syndrome?
The symptoms of neurocutaneous syndromes vary depending on the specific syndrome; they may include the following:
1. Tuberous Sclerosis (TS): Tubers or growths commonly found inside the brain and the retinal area of the eye. Tuberous sclerosis affects numerous organs in the body, including the child's brain, spinal cord, lungs, heart, kidneys, skin, and skeletal bones. This disease is also linked to intellectual disability, developmental delays, learning disabilities, seizures, mental retardation, autism, skin lesions, and benign brain, heart, lung, and kidney tumors.
2. Neurofibromatosis (NF): Neurofibromatosis (NF) is a genetic disorder that affects the nervous system. It is classified into three types: NF1, NF2, and schwannomatosis.
a) Neurofibromatosis1 (NF1):
- The most common type of neurofibromatosis is NF1, known as Von Recklinghausen’s disease. It is characterized by light brown patches of pigmentation on the skin, known as cafe-au-lait spots. It is also associated with benign (noncancerous) nerve tumors called neurofibromas.
- Neurofibromas are frequently found on the child's nerves and in various organs. Patients with NF have a high incidence of brain tumors. However, less than 1 percent of people with NF will develop malignant (cancerous) changes in their neurofibromas.
- Lisch nodules (dome-shaped elevations projecting from the iris surface) also may be developed on the iris (the colored part of the eye); it is small tumors that can appear in adolescence but rarely cause problems.
- There may also be hearing loss, headaches, seizures, scoliosis, and facial pain or numbness. Intellectual disability affects up to 1 percent of people with neurofibromatosis I, while other children may experience learning difficulties and hyperactivity.
b) Neurofibromatosis 2:
- NF2 is a less common neurofibromatosis characterized by tumors that develop on both cranial and spinal nerves.
- This type of neurofibromatosis affects about one in every 25,000 people, and symptoms usually appear between 18 and 22 years of age. However, it is less common and is known as bilateral acoustic neurofibromatosis. Tumors on the eighth cranial nerve cause hearing loss, headaches, problems with facial movements, balance problems, and difficulty walking.
- They may also be associated with seizures, meningiomas (membranous tumors around the brain and spinal cord), neurofibromas (skin nodules), and cafe-au-lait spots (dark to light brown pigmented birthmarks that appear on the newborn’s skin)
Schwannomatosis is an uncommon variant of NF characterized by painful growths of Schwann cells that can develop anywhere in the body but are most commonly found in the head, neck, spine, arms, and legs. It is characterized by intense pain and the growth of tumors except for the brain and spine. Symptoms can vary widely, including tingling, numbness, pain, balance problems, muscle weakness, fatigue, and cognitive impairment.
3. Sturge -Weber Disease:
Sturge-Weber Syndrome is caused by a mutation that affects the blood supply to certain brain parts, which can cause neurological abnormalities such as seizures, intellectual disability, and paralysis. It is characterized by a port wine stain on the child's face, typically near or around the eye and forehead areas, which is the most common symptom of this disease. A port wine flat stain area on the child that ranges from red to dark purple and is present from birth. The birthmark is caused by the formation of an abnormally large number of tiny blood vessels beneath the skin. A child also has increased pressure in the eye region called glaucoma at birth.
How Are Neurocutaneous Syndrome Diagnosed?
A physical examination and diagnostic tests are used to make the diagnosis. During the examination, the doctor obtains the child's complete prenatal and birth history and asks if any other family members have any of these conditions. The doctor will also inquire about developmental milestones in older babies and children, as these disorders can be associated with other neurological issues and may necessitate additional medical attention.
The following diagnostic test are carried out:
1. Genetic Testing- This is often the first step in diagnosing a neurocutaneous syndrome. A geneticist or genetic counselor can review family medical history and other relevant information to determine if a genetic mutation is present.
2. Magnetic Resonance Imaging (MRI) - They use large magnets, radio waves, and computers to help assess the structure of the brain and body.
3. Computed Tomography Scan (CT Scan) - A diagnostic imaging procedure that employs X-rays and CT scans to create horizontal or axial images of the body. A CT scan produces high-resolution images of the body parts, including the bones, muscles, fat, and organs. CT scans provide more information than standard X-rays.
4. Electroencephalogram (EEG) - EEG is used to detect abnormal electrical activity in the brain through the electrodes (sticky pads) attached to the scalp.
5. Eye Examination - An eye examination is done to look for signs of glaucoma (excess pressure on the eye) or cataracts (clouding of the eye's normally clear lens).
6. Biopsy - A biopsy may be performed to confirm the presence of tumors or other abnormalities. A small tissue from the tumor is taken and examined under the microscope.
How Is Neurocutaneous Syndrome Treated?
Treatment of neurocutaneous syndrome depends on the underlying condition and symptoms. It will depend upon the child’s symptoms, age, and general health. Treatments may include medication, surgery, and lifestyle changes to help manage the symptoms. A neurocutaneous syndrome is a lifelong condition with no cure. Because of that, the child is treated by healthcare providers, which may include:
1. Pediatrician or Family Doctor- The child's primary care physician.
2. Neurologists- They are physicians who treat brain, nerve, and spinal cord conditions.
3. Neurosurgeon- The surgeon who treats the brain and spinal cord.
5. Orthopedic Surgeon- The surgeons deal with muscles, bones, ligaments, and tendons.
6. Ophthalmologist- The physician who treats eye problems.
7. Oncologist- The doctor who treats cancers and other tumors.
8. Nurses - Healthcare providers who frequently collaborate with other healthcare professionals.
9. Rehabilitation Team - Physical, occupational, speech, and audiology therapists are included in the rehabilitation group.
How To Prevent Neurocutaneous Syndrome In a Child?
Preventing neurocutaneous syndromes (NCS) in children is possible through genetic counseling. Genetic counseling can inform families about the risks of having a child with NCS and advise reducing the risks. Parents may be advised to have a family history taken and have their children tested for NCS-related genes. Genetic testing can also be performed to identify if a parent or relative is a carrier of an NCS-related gene.
Preventative measures can be taken if a child is at risk. These may include regular check-ups, screening for conditions associated with NCS, and medications or therapies to manage symptoms. Surgery may sometimes be recommended to remove tumors or abnormal tissue. Early diagnosis and treatment are important to reduce the risk of complications.
Neurocutaneous syndromes are genetic disorders affecting the spinal cord, brain, organs, skin, and bones. These disorders are lifelong conditions that can be challenging to diagnose and treat but can be managed with proper care. They can also cause many problems, such as hearing loss, seizures, and developmental problems. Still, with the right combination of medical intervention and lifestyle modifications, individuals living with these conditions can enjoy a good quality of life.