Neurocutaneous Syndromes in Children

Neurocutaneous Syndromes in Children

About Neurocutaneous Syndromes

Neurocutaneous syndromes are disorders that lead to development of growths in different parts of the body. They’re brought on by the unusual advancement of cells in an embryo and defined by the growths in different parts of the body (including the nerve system) and by specific distinctions in the skin.

While some can be diagnosed at birth, others do not produce symptoms till later on in life. Although neurocutaneous syndromes can’t be treated, treatments can assist manage symptoms and any health problems that occur.

Recently, important advances have been made in utilizing DNA screening to verify these syndromes in some people.

Neurocutaneous syndrome is a broad term for a group of rare neurological (brain, spine, and peripheral nerve) disorders. These illness are lifelong conditions that can cause growths to grow inside the brain, spine, organs, skin, and skeletal bones. The most typical conditions discovered in children are skin sores.

Types of Neurocutaneous Syndromes

Typical neurocutaneous syndromes that affect kids consist of:

  • neurofibromatosis, types 1 and 2 (NF1 and NF2)
  • Sturge-Weber syndrome
  • tuberous sclerosis (TS)
  • ataxia-telangiectasia (A-T)
  • von Hippel-Lindau disease (VHL)

Symptoms vary widely from condition to condition, and they impact different kids in various ways. Frequently, the full results of these diseases– even if identified at birth– don’t emerge until a child matures. The educational, social, and physical issues that the conditions cause must be handled throughout a child’s life.


Neurofibromatosis is one of the most common neurocutaneous syndromes. It can cause growths involving the nerves, brain, and other organs.

Neurofibromatosis is normally acquired, but as much as half of cases occur because of spontaneous changes (anomalies) in a person’s genes. As soon as a mutation takes place, the altered (mutant) gene can be handed down to children. The child of a parent with neurofibromatosis has a 50% opportunity of inheriting the condition.

The 3 kinds of this condition are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and Schwannomatosis. NF1 is the most typical, representing about 90% of all cases.

Neurofibromatosis Type 1

NF1 (also called von Recklinghausen disease) happens in about 1 in 2,500 babies born worldwide. To detect NF1, physicians take a comprehensive medical and family history since children with NF1 often have a parent with the disease.

The timeless sign of NF1 are skin pigmentary findings referred to as “café-au-lait” spots. These light brown or coffee-colored birthmarks may be present at birth. They typically increase in size and number during the first two years of life. A child identified with NF1 should have at least 6 café-au-lait spots of a particular size. The spots are flat, don’t itch or hurt, and don’t become anything more serious.

Other typical signs are freckling in the armpits and groin, in addition to Lisch nodules, which are small noncancerous (benign) bumps on the iris, the colored part of the eye. Sometimes, tumors can develop along the optic pathway and affect vision. During adolescence, noncancerous tumors called neurofibromas might develop on or under the skin or along the nerves. Bone defects also may develop.

A child with complications involving the eye, nervous system, spinal column, or bones will be referred to an expert for treatment. In cases where these neurofibromas are triggering pain or infections, or becoming vital body organs, the developments can be eliminated through surgery.

Children with NF1 can also have a high occurrence of seizures, learning impairments, attention deficit disorder (ADHD), autism, and speech issues. Therapy and specialists can assist manage those symptoms.

Neurocutaneous Syndromes in Children

Neurofibromatosis Type 2

Neurofibromatosis type 2 is less common, taking place in about 1 in 25,000 births. Young person with NF2 are generally identified when they establish growths on the vestibular nerves (the nerves causing the ear). On the other hand, young kids with NF normally have retinal abnormalities and back tumors.

NF2 symptoms, which appear in the teenager years or early 20s, can include hearing loss, sounding in the ears, and balance problems balance. Surgery and chemotherapy can assist manage these problems.


Schwannomatosis is an even rarer kind of neurofibromatosis, in which individuals develop multiple non-cancerous tumors involving the nerves in many areas of the body, usually the arms or legs. But unlikeNF2, they don’t get vestibular nerve growths.

In their mid-20s, people with this disorder might experience numbness, weak point, muscle atrophy, and severe pain in parts of their bodies. Treatments, such as pain medications and surgery, are readily available to handle these symptoms.

Tuberous Sclerosis

Tuberous sclerosis, or TS, causes non-cancerous developments called bulbs to form on organs, consisting of the brain, eyes, kidneys, heart, lungs, bones, and skin. It takes place in about 1 in 6,000 births, and the child of a parent with TS has a 50% chance of having it.

TS is typically first acknowledged when a child has seizures or programs developmental delays. The intensity of TS symptoms differs considerably among kids, ranging from moderate skin modifications to learning disabilities, mental retardation, or kidney failure.

Treatment generally includes medication to manage seizures, treatments to address skin issues, surgery to eliminate tumors, and management of hypertension triggered by kidney disease.

Sturge-Weber Syndrome

Sturge-Weber syndrome is a rare condition brought on by a spontaneous genetic anomaly that affects the skin and brain. What causes the anomaly is unidentified. So far, no hereditary factors have actually been found. It isn’t really passed to children by parents who carry the disease. Because it frequently goes undiagnosed, it’s tough to approximate the number of individuals are impacted.

Each case of Sturge-Weber is unique and symptoms differ widely. The most noticeable sign is a facial birthmark or “port-wine stain” at birth that generally covers at least one upper eyelid and the forehead.

Sturge-Weber syndrome can lead to neurological problems, consisting of uncommon blood vessel growths on the brain. These typically cause seizures that start prior to the first birthday and can get worse with age. A child likewise might experience seizures that affect the side of the body that’s opposite from the port-wine stain.

About half of patients likewise establish glaucoma (increased pressure inside the eye that impairs vision), typically in the eye that is impacted by the port-wine stain. That eye likewise might be bigger (a condition called buphthalmos). Some kids who have this condition also experience strokes.

Treatments, medications, and surgery can assist a child manage the illness related to the disease.

Children as young as 1 month old who have Sturge-Weber can go through laser treatment to minimize or remove port-wine discolorations. Anticonvulsant medication may be used to control seizures, and surgery can control glaucoma and vision problems.

Ataxia Telangiectasia

Ataxia telangiectasia (A-T) is a gradually getting worse disease including many significant body systems. It’s a recessive hereditary disease, suggesting that two healthy parents who carry the gene could have a child with A-T. Two parents who carry the mutated gene have a 1 in 4 chance of having a child affected by A-T.

A-T is usually seen in the second year of life, as a child establishes problems with balance and slurred speech caused by ataxia (absence of muscle control). The ataxia takes place because the cerebellum, the part of the brain that manages muscle motion, is degenerating. Ultimately, lack of muscle control ends up being severe enough for the child to need a wheelchair.

Another symptom of A-T is the look of tiny, red, spiderlike veins in the corners of the eyes or on the ears and cheeks when exposed to sunlight. These veins, known as telangiectasias, are harmless.

About 70% of children with A-T likewise have body immune system problems that make them more vulnerable to lung disease. These children often have chronic upper respiratory infections, lung infections, and pneumonia. They’re likewise very vulnerable to establishing specific cancers, such as leukemia and lymphoma.

Currently, there’s no treatment for A-T and no chance to stop its progression. But treatment can help kids manage symptoms. Physical therapy and occupational therapy may assist maintain versatility, and speech therapy can help address slurring and other speech issues. Special medications might be provided to help boost weakened immune systems.

Von Hippel-Lindau Disease

Von Hippel-Lindau disease (VHL) is an unusual congenital disease involving the irregular development of blood vessels, leading to tumors. It generally impacts particular areas, such as the brain and other parts of the central nerve system, the retina in the back of the eye, the adrenal glands, the kidneys, or the pancreas. Although few individuals have this disease, the child of a parent who brings the gene that causes VHL has a 50% chance of having the disorder.

Blood vessels usually grow like branches on a tree, but in kids with VHL, they form little growths called angiomas. Physicians thoroughly keep track of angiomas because, depending on their location, they can cause other medical problems. For example, angiomas on the retina may cause vision loss.

Symptoms typically appear when someone is in between 10 and Thirty Years old. VHL is identified through an MRI or CT scan, a physical examination, and blood tests.

Symptoms depend upon the size and place of the angiomas, and can consist of headaches, balance issues, dizziness, weakness, vision issues, and high blood pressure. Fluid-filled cysts or tumors (malignant or non-cancerous) may establish around the angiomas, worsening these symptoms. People with this disorder have a higher risk of establishing cancer, specifically kidney cancer.

VHL treatment depends upon the size and location of the angiomas. The objective is to treat the growths while they’re small and before they put pressure on any significant organs. Surgery might be needed to eliminate growths before they produce severe problems.

The outlook for VHL patients depends where the growth lies and whether it’s causing a problem to the patient. Thankfully, early detection and treatment can enhance treatment outcome.

Caring for Your Child

The health problems connected with neurocutaneous syndromes can put massive stress and psychological problems on you and your child, and it’s easy to feel overloaded. Early intervention is very important to assist your child accomplish the best lifestyle possible.

It is essential that your child is looked after by a group of medical experts. Treatment must prevent or reduce complications and make the most of a child’s strengths. Keep these ideas in mind:

  • Positive support can enhance your child’s self-confidence and cultivate a sense of independence. Let your child discover what she or he can, particularly concerning daily living skills.
  • Support groups can be assistance, so seek out regional chapters that resolve your child’s specific disease. They offer a supportive social environment, and are an excellent method to share knowledge and resources.
  • Psychiatric therapy or other supportive treatments can enhance your child’s self-esteem and coping skills, so ask the treatment team for recommendations. Therapy likewise can assist other family members deal with the stress involved in taking care of a child with a chronic health problem or disability.
  • Physical, occupational, or speech therapy can help your child improve some of the developmental delays caused by the particular disease.
  • Contact your local health center or university for seminars about neurocutaneous syndromes.

Lots of medical professionals might look after your child during diagnosis and treatment. These specialists can consist of a household practitioner, pediatrician, neurologist, neurosurgeon, orthopedic surgeon, oncologist, geneticist, and eye doctor. A hereditary counselor also can provide info about hereditary screening and the risk of passing the disease on to another child.

Remember that although each of these conditions is tough, encouraging therapies and treatments can help both you and your child.

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