Neurofibromatosis

Introduction According to Gutmann et al. (2017) neurofibromatosis is a group of three conditions whereby tumors grow in the nervous system. These conditions are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. It is considered to be a genetic disorder of the nervous system. Neurofibromatosis mainly affects the development and growth of nerve cell tissue. The tumors can develop anywhere in the nervous systems including spinal cord, brain, and nerves. These tumors are mostly noncancerous, however, there have been instances when they do become cancerous.

The most common condition is NF1. Schwannomatosis is the most recent and it is a rare type of neurofibromatosis. Little is known about schwannomatosis. NF1 manifests at birth or in early childhood. It is characterized by multiple café-au-lait (light brown) spots that are concentrated in the groin and underarms (Gutmann et al., 2017). It is also manifested by benign tumors under the skin. Scoliosis may be present. NF2 might appear during childhood, adolescence, or in early adulthood.

NF2 is portrayed by benign tumors of the nerves that will transmit sound impulses and balance signals from the inner ears to the brain. The tumors will mostly affect both the right and left auditory nerves. Normal Anatomy of The Nervous System The central nervous system (CNS) consists of the brain and spinal cord. The brain is charged with controlling most of the body functions including movements, awareness, thoughts, sensations, memory, and speech. The spinal cord is connected to the brain at the brainstem.

It is covered by vertebrae of the spine. The nerves exit the spinal cord on to both sides of the body. The spinal cord is charged with carrying signals back and forth from between the nerves in the body and the brain (Anderson & Gutmann, 2015). The part of the nervous system that is outside the CNS is referred to as the peripheral nervous systems (PNS). PNS is made up of nerves that send and receive signals from the CNS.

It is divided into the autonomic nervous system and the somatic nervous system. The autonomic nervous system is charged with controlling involuntary functions that the body does by itself like breathing. The somatic nervous system controls body movements that are under the individual's control like walking. Normal Physiology of The Nervous System The nervous system is charged with receiving information regarding the environment and generating responses to the information received (Kruyt, Verheul, Hanssens, & Kunst, 2018). It is divided into regions that are responsible for sensation and for a response.

Sensory functions are for sensation and motor functions are for a response. Sensation is involved in receiving information from the environment in order to gain input regarding what is happening outside the body. The sensory function will register the presence of a change in the environment. Responses are produced based on the stimuli received or perceived by the sensory structures. The most obvious response to stimuli is the movement of muscle like wit drawing a hand from a hot stove.

The response also involves the neural control of glands like the production of sweat. With normal functioning, the nervous system will receive and respond appropriately to the received stimuli from the environment. In case of an issue, there will be a loss of sensation or movement. Mechanism of Pathophysiology The nervous system is concerned with the receiving and sending of signals within the body. The signals received from the environment should be transmitted in order for them to be acted upon by the required organ or cell.

When it is overly hot outside, the body should be able to receive this signal and react by activating the sweat glands. When there is any kind of obstruction of the nerves the signals will not be sent and there will be reduced reaction or response to the environment. The tumors that form within the nervous system will obstruct it from receiving signals and this will impact the body by reducing the responses that are sent from one organ or cell to another.

Information from the senses will travel through the PNS nerves to the brain for processing. The commands from the brain will travel down the spinal cord to the appropriate part of the PNS where the nerves will transport the instructions to the appropriate body part. The tumors will damage the spinal cord and this will impact the delivery and receipt of signals. The pressure that is put on the spinal cord by the tumors can impair sensory and motor functioning.

When tumors occur along the optic nerve, they might affect a person's eyesight. This is because signals from the eye will not be properly sent and whatever a person is looking at will be incorrectly decoded by the brain (de Blank et al., 2017). The optic nerve can be severely affected and this might lead to blindness. In case no signal is received or sent through the optic nerve the person will not be in a position to see.

The failure to send signals from any particular body part means that the functioning of the body part is not possible. Control for movement can also be impacted. Sensory and reflex functioning becomes unavailable since the spine cannot offer immediate responses that require reflex action. Prevention There is no way of preventing neurofibromatosis. This is because the condition is a genetic disorder that most people get from their parents. It can also occur from a genetic mutation.

Since it is a genetic disorder it is not possible for one to prevent themselves from getting the condition. A person who has the condition is most likely to pass it over to their offspring’s. Therefore, the best way for them to avoid passing the condition to their offspring’s is to avoid conception. This is the best primary prevention strategy as it avoids the transmission of neurofibromatosis from an affected parent to their offspring’s.

Treatment While there is no known cure for neurofibromatosis the goal for treatment is relieving the symptoms suffered by a patient. Patients need to be routinely monitored for complications. Surgery might be performed to remove problematic growth and tumors. Treatment might involve the use of radiation and chemotherapy if the tumor has become cancerous or malignant (Kruyt et al., 2018). However, it should be noted that surgery to these areas might result in further injury to the nerves and there might be additional neurological problems.

Therefore, the benefits of surgery must be weighed against the risks. Children diagnosed with neurofibromatosis at an early age should be monitored and have an annual examination that checks for any potential growths or changes that might be related to the disorder (de Blank et al., 2017). This will allow for early interventions and mitigation of the disorder. Radiotherapy is not recommended for children who have this disorder. Clinical Relevance It is vital that this disorder is well understood.

With proper understanding, a cure and prevention for the disorder can be developed. Research is still ongoing on how best to prevent and treat the disorder. Considering the prevalence of the disorder, primary prevention should be encouraged. This will work towards reducing the number of cases being reported. People should be encouraged to get diagnosed or seek treatment if they have more than six café-au-lait spots.