Symptoms of Neurocutaneous Syndromes in Children
The child may have varying degrees of symptoms associated with each condition. The following are the most common symptoms of tuberous sclerosis, neurofibromatosis, and Sturge-Weber disease. Symptoms may include:
Tuberous sclerosis. Growths, called tubers, are often found growing inside of the brain and retinal area of the eye. Tuberous sclerosis affects many organs in the body including the brain, spinal cord, lungs, heart, kidneys, skin, and skeletal bones in the child. Intellectual disability, developmental delays, seizures, and learning disabilities are also associated with this disease.
Neurofibromatosis (NF). There are three distinct types of NF, classified as NF I, NF II, and schwannomatosis:
Neurofibromatosis I. This is the more common of the two disorders. It is also called Von Recklinghausen's disease. The classic symptom of NF I is light brown patches of pigment on the skin, called cafe-au-lait spots. Benign (non-cancerous) skin tumors associated with this condition are called neurofibromas. Neurofibromas are often found growing on the nerves and in various organs of the child's body. There is a high rate of brain tumors in patients associated with NF. Less than one percent of individuals with NF will have malignant (cancerous) changes in the neurofibromas. Lisch nodules, which are small tumors on the iris (colored part of the eye), may appear around adolescence, but usually do not cause problems. Hearing loss, headaches, seizures, scoliosis, and facial pain or numbness may also be present. Intellectual disability is present in up to one percent of individuals with neurofibromatosis I, while other children may have learning problems and hyperactivity.
Neurofibromatosis II. According to the NINDS, this type of neurofibromatosis affects approximately one in 25,000 people, and symptoms are usually noticed between 18 and 22 years of age. It is known as bilateral acoustic neurofibromatosis and is less common. This disease is characterized by tumors on the eighth cranial nerve, which can lead to hearing loss, headaches, problems with facial movements, problems with balance, and difficulty walking. Hearing loss may be noted as early as the teenage years. Other clinical signs of NF II may include seizures, neurofibromas (skin nodules), and cafe-au-lait spots (although these are not nearly as common as in NF I).
Schwannomatosis. The primary feature that distinguishes schwannomatosis from NF1 and NF2 is the growth of multiple schwannomas throughout the body except the vestibular nerve is not involved. Extremely intense pain is the main symptom, which occurs when a schwannoma becomes larger or presses on a nerve or nearby tissue. Other symptoms that may be experienced include numbness, tingling, or weakness in the fingers and the toes.
Sturge-Weber disease. The classic symptom of this disease is a port wine stain located on the child's face, typically near or around the eye and forehead areas. A port wine stain is present from birth and is a flat area on the child that varies in color from red to dark purple. The birthmark is caused by the formation of too many tiny blood vessels under the skin. There may also be associated brain abnormalities on the same side of the brain as the face lesion. Neurological changes that occur with this condition may include seizures, muscle weakness, changes in vision, and intellectual disability. Glaucoma (a condition that causes increased pressure in the eye) may also be present at birth. Unlike tuberous sclerosis and NF, Sturge-Weber disease does not affect the other organs of the body.