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Neurofibromatosis

21:55 - 4 May , 2021

Disease

What is Neurofibromatosis?

It is a condition that produces tumors or neurofibromas in the nervous system tissues, which can affect brain areas, the spinal cord, or the upper and lower layers of the skin, which can cause from cosmetic problems to loss of function or movement of the affected nerve. Neurofibromatosis is a hereditary pathology transmitted by one of the parents affected with this disease, which is classified into three types:
  • Type 1: is the most common and occurs during childhood.
  • Type 2: less common than the previous one, it appears in adulthood.
  • Schwannomatosis: it is rare and affects people between 20 and 30 years old.
Generally, neurofibromas are benign, but sometimes they can become cancerous, so it is important to diagnose and treat them promptly, preventing possible complications.

Symptoms

They depend on the type of neurofibromatosis suffered: Type 1:
  • Nodular lumps.
  • Deformed bones.
  • Pain.
  • Short height.
  • Beige skin spots.
  • Optic gliomas (optic nerve tumor).
  • Dark-colored plexiform neurofibromas that may extend under the skin surface.
  • Small spots similar to axillary and inguinal freckles.
  • Bulging in the iris of the eye.
  • Learning problems (hyperactivity and attention deficit).
  • Larger head.
Type 2:
  • Seizures.
  • Balance difficulties.
  • Headaches.
  • Numbness and weakness in arms and legs.
  • Gradual hearing loss.
  • Vision problems or cataracts.
  • Drooping face.
  • Ringing in the ears.
Schwannomatosis:
  • Chronic episodes of pain in various body areas that can become disabling.
  • Weakness and stiffness in the upper and lower limbs.
  • Decrease in muscle mass.
Potential risks: They will also depend on the type of neurofibromatosis that is suffered, but the complications that can occur, mainly due to the appearance of tumors that press on the nerves or internal organs, are the following:
  • Cardiovascular conditions.
  • Chronic and disabling pain.
  • Epilepsy and other neurological disorders.
  • Hearing loss.
  • Vision loss.
  • Musculoskeletal problems.
  • Cancerous tumors

Diagnosis and treatment

Once your doctor analyzes your symptoms and clinical history, they will perform a physical and neurological examination, in addition to requesting blood tests, computed tomography, MRI, vision, hearing, and balance tests, as well as genetic tests to help identify the type of neurofibromatosis you have. Treatment focuses on controlling symptoms according to each patient’s specific case, so different procedures and therapies can be used, including medications, surgery to remove tumors, stereotactic radiosurgery, cochlear and brain stem auditory implants, as well as radiotherapy and chemotherapy, among others. At the Neurological Center, a select group of highly trained and certified doctors in the various neurological specialties are ready to assist you with the quality and warmth that characterizes us.

Specialists

  • Neurology
  • Neurosurgery
  • Spine surgery
  • Pediatric neurosurgery
  • Neurophysiology
  • Neuro-rehabilitation
  • Neuro-pathology
  • Interventional neuro-radiology
  • Neuropsychology
  • Neuro-oncology
  • Neuro-otology
  • Epilepsy
  • Neuro-ophthalmology
  • Neuroimaging

Fuentes:

  • neurofibromatosis.es
  • fesemi.org
  • mayocilinic.org
  • medlineplus.gov
  • msdmanuals.com
  • medigraphic.com
  • Torres RB, Martínez TG, Lantigua CPA, et al. Respuesta inmune humoral y manifestaciones clínicas de desregulación inmune en pacientes pediátricos con Neurofibromatosis Tipo 1. Rev Cub Gen . 2017;11(3):19-24.
  • Ramos-Espinoza AB, Garza-Tovar TF, Mesa-Garza IG, et al. Neurofibromatosis segmentaria verdadera: presentación de un caso. Dermatología Cosmética, Médica y Quirúrgica. 2021;19(2):153-156.
  • Marzo RT, Guerrero CL, Lacosta ZJ. Neurofibromatosis tipo I. Presentación de un caso. RIC. 2019;98(3):395-404.
  • Lammoglia OL, Rodríguez SM, Martínez LE, et al. Neurofibromatosis segmentaria: Reporte de un caso. Dermatología Cosmética, Médica y Quirúrgica. 2019;17(3):196-199.

						

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