Alexander Disease : A Rare Defect Involving The Nervous System

Krabbe disease is a genetic disorder affecting the nervous system (Stanley 2005). Krabbe disease affects the breakdown of myelin coating and destroys brain cells (Stanley 2005). This can hurt the process of brain function and how the person can deal with every day activities. Myelin is a coating that coats the nerve and lets the messages get sent faster, it also protects the nerves and the nervous system (Stanley 2005). It is absolutely important and needed for the nerve cells to communicate and body functions to all work properly (Stanley 2005). As nerves get bigger, myelin is always being built, broken down, recycled, and rebuilt (Stanley 2005). To break down enzymes, metabolize fats, carbohydrates, and protein, you need myelin (Stanley 2005). Without myelin, many problems can occur.

Usher syndrome is a genetic disorder that causes its victims to get retnis pigmentosa (RP), or a disease that affects someone’s retinas resulting in tunnel vision, and hearing loss. The most common gene that becomes mutated is gene USH2A, this is a protein producing gene. It is a mutated recessive gene, meaning that in order to inherit Usher syndrome both parents have to be carriers of it. Once the child gets Usher syndrome, they will experience loss of eyesight and hearing.

The breakdown of the myelin sheath is caused from a mutation of the gene that makes the Adrenoleukodystrophy protein (ALDP). This ALD protein helps the body metabolize saturated very-long-chain fatty acids found in the serum and tissues of the central nervous system. The newly mutated gene no longer acts as a help aid to breaking down the long-chain fats. Therefore, the body starts accumulating an abnormal amount of fat in the nervous system, adrenal gland and testes that sets off an unusual response in the immune system; demyelination.

Myelin, the common factor in each disease, is a subsatnce that surrounds and insulates axons on some nerve cells, allowing for a faster transporting of signals and proper functioning of the nervous system. A demyelinating disease results in the damage of nerve fibers in the brain and spinal cord due to the myelin sheath being destroyed, which is life threatening.

Most people have never had the privilege to meet a child living with Smith-Lemli-Opitz Syndrome, SLOS for short. In fact, most people have never even heard of the disease. I have been able to spend time with a SLOS child and her wonderful family for the past 4 years. Audrey Bowers is a beautiful 5 year old girl who is severely impaired due to her genetic condition. SLOS is a rare metabolic disorder caused by a mutation in a gene found on chromosome 11. This specific gene corresponds to an enzyme that aids in the production of cholesterol within the body (Smith). Children with SLOS, like Audrey, are unable to produce enough cholesterol which leads to significant deficits in mental and physical development.

(Giarelli, Bernhardt, & Pyeritz, 2010, Lashley, 2007 ,Canadas et al., 2010). The mutant gene is found on an autosome consequently, the syndrome can affect males and females equally. While, only one copy of the mutant gene is necessary for the disorder to be present (Lashley, 2007). Fibrillin-1 is a large gene, made of complex glycoproteins that are responsible for the flexibility and strength of connective tissue (Giarelli, Bernhardt, & Pyeritz, 2010 & Gonzales, 2009). Fibrillin-1(FBN1) is most abundant in the cardiac, ocular and, skeletal system throughout the body. This glycoprotein can also be found in elastic and non- elastic tissues and is a chief component of microfibrils. Microfibrils maintain cellular bonds in the extracellular matrix and form the framework of elastic fibers in the aorta and ligaments of the musculoskeletal system and multiple organ systems (Keane & Pyeritz, 2008). These microfibrils consist of the structural parts that support the ligaments in the ocular lens and have a load-bearing role in elastic arteries (Chen & Buehler, 2010). As a result of the mutation in the FBN1 gene abnormalities occur in the microfibrils and can cause faulty connective tissue. The mutations were thought to create weakness of the aortic wall, lens dislocation, joint hyperlaxity and, widening

The damaged myelin degenerates and is engulfed by macrophages. When the affected nerves are examined under the microscope, the first abnormality to be seen is the migration of inflammatory cells and macrophages into the nerve. This is followed by destruction of the myelin. The destruction of myelin is caused by the phenomenon: molecular mimicry – where the antigen of the invading organism is similar to the antigens on the surface of the myelin sheath, then antibodies and inflammatory cells attack and damage the myelin. Inflammation and degeneration of the myelin causes leakage of proteins from the blood into the CSF, causing the increased CSF protein concentration that characterizes the disease. Also, the degenerate myelin particularly slows down the propagation of nerve impulses along your peripheral nerves; resulting in muscle weakness or paralysis. Fortunately, Schwann cells are not usually damaged; they are able to multiply and align themselves along the axon to form a new myelin sheath. This is an efficient and effective process, and full recovery can

Adrenoleukodystrophy or otherwise know as ALD is a genetic and metabolic disorder in ,which long chains of fatty acids are deposited in the adrenal cortex and the nervous system, since the enzyme that breaks down fatty acids is not produced. The myelin sheath of the nerve cells and brain begins to deteriorate and weaken. The myelin sheath is responsible for protecting and covering the brain and nerve cells. When it becomes damaged neurological damage happens which is irreversible. As is the case of the occipital lobe. Which is located in the back when it becomes damaged it can lead to poor vision or blindness. There's two types of ALD ,but the most common is X-ALD. This means that their is an abnormal gene located on the x- chromosome.

Brain disorders are categorized as major health conditions based on the fact that the brain is the control center of the body. Brain disorders come in many forms and at times are difficult to diagnose based on their complexity. A very rare degenerately unchangeable brain disorder of the central nervous system is Creutzfeldt-Jakob disease (CJD). Creutzfeldt-Jakob disease affects one person in a million within a population that is worldwide (Llorens et al., 2015). The USA is known to have two hundred cases of patients diagnosed with Creutzfeldt-Jakob disease each year (Llorens et al., 2015). Although the disease is very rare, it is very deadly because after onset of symptoms of the disease the patient usually passes after a year of diagnosis. Most patients develop the disease around their sixties and typically only have one year left to live (Head et al., 2009). CJD can be categorized etiologically as sporadic, infectious, and inherited neurodegenerative disorder due to the misfolded proteins making it very unique. Symptoms in clinical trials of CJD have consisted of rapid onset of progressive dementia, involuntary muscle contractions, inability to balance, cognitive impairment and visual deterioration (Gozke et al., 2008).

In 1906 a physician, named Alois Alzheimer, cared for a fifty-one year old patient with severe dementia. Upon her death, he was able to examine her brain at autopsy. Dr. Alzheimer was able to take advantage of recent innovations in microscopy and histological techniques that allowed him to study in detail the cellular components in nervous tissue. He found that the brain of his patient had severe cortical atrophy and described the neurofibrillary bundles and plaques that are now the hallmark for definitive diagnosis of what he at that time called “presenile dementia”. An account of his first patient was published in 1907. It is a little ironic that reevaluation this case has lead some to believe that this first patient did not suffer from the Alzheimer’s disease at all. Instead they believe she suffered from a different, rare disease called metachromatic leukodystrophy (Izenberg, 2000).

Gilberts syndrome could be one of the diagnoses for patient L as it is caused by the incapability of the hepatocytes to take up bilirubin from the blood. This causes the level of unconjugated bilirubin level to accumulate whilst the conjugated bilirubin level remains within range. As a result, the total bilirubin level is increased. Another diagnosis was Crigler-Najjar Type I syndrome, which takes place when unconjugated bilirubin is retained by the body whilst conjugation is impaired. This causes an increase in the total bilirubin level, as shown by its parameter reading value

Neurofibromatosis is a “genetically inherited disorder of the nervous system.” (Nordqvist, 2016) This disease causes the development of tumours in the nervous system, primarily involving the brain and the spinal cord, but may lead to the growth of tumours elsewhere on the body. There are three different types of Neurofibromatosis (NF) these involves, Type 1 NF (Von Recklinghausen NF), Type 2 NF (Bilateral neurofibromatosis NF) and Schwannomatosis. Information, regarding the various components of this disease, comprises of its heritability, the nature of the disease and possible treatments such as, DNA manipulation.

Thyroid hormone is essential for the growth and maturation of many target tissues, including the brain and skeleton. As a result, abnormalities of thyroid gland function in infancy and childhood result not only in the metabolic consequences of thyroid dysfunction seen in adult patients, but in unique effects on the growth and /or maturation of these thyroid hormone-dependent tissues as well (Brown, 2012). The aim of this paper is to address development of thyroid disorders in the newborn and children, presentation of symptoms and interventions taken to prevent, diagnosis and treat thyroid disorder. Nurses’ interactions with the patient provide and as a member of the health care team require the ability to recognize and understand the impact

Metachromatic Leukodystrophy is an inherited disorder in which cells accumulate fat. This accumulation of fat in the cells is called ‘sulfatides.’ When this occurs, it makes it difficult for the nervous system to produce myelin which is a protection around the nerve cells. When myelin protects a cell, it can produce white matter throughout the nervous system. However, the sulfatide in the cells makes I difficult to produce white matter because it will either destroy or damage white matter. Resulting in a deterioration of intellectual function, motor skills and the ability to walk.

In the central nervous system, microglia and astrocytes are the major type of glial cells, and activation of these cells has been involved in all neurodegenerative diseases (Wyss-Coray and Mucke, 2002). Nevertheless, the