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Neurocutaneous Syndromes

Neurocutaneous syndromes result from genetic mutations that cause abnormal growths to develop throughout the body. There are many distinct neurocutaneous syndromes, so symptoms can vary according to the type. Nervous system effects include problems with hearing, vision, and balance, and these effects can be accompanied by rashes, birth marks, muscle weakness, seizures, and organ dysfunction.

With Neurocutaneous Syndromes, Doctors Focus on Treating Symptoms

There is no cure for neurocutaneous syndromes, but doctors can address the health issues that result from these conditions:

  • Seizures/Epilepsy – People with neurocutaneous syndromes can sometimes develop seizure disorders. In this case, anti-seizure medications reduce the frequency and severity of seizures in patients.
  • Hypertension – In the event a neurocutaneous syndrome raises a person’s blood pressure, physicians can prescribe hypertension medications like beta blockers and ACE inhibitors.
  • Tumours – Neurocutaneous syndromes are primarily associated with non-cancerous growths, but chemotherapy may still be recommended. Much like malignant tumours, chemo medications can shrink benign growths in some cases.

While symptoms often first appear in childhood, some people do not experience the effects of neurocutaneous syndromes until adulthood. Keep in mind that treatment protocols will differ when it comes to children with neurocutaneous syndromes. In most cases, children and adults with these conditions require a team of doctors and specialists to manage health effects.

 

What is the Outcome for Neurocutaneous Syndromes?

For many children born with neurocutaneous syndromes, lifelong care is necessary. Along with medications, many patients require physical and occupational therapy to overcome limitations. Regular doctor visits are also important for tracking symptoms and determining whether a new treatment approach is needed.

 

 
 
 

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