Analysis of the Adrenoleukodystrophy - Case Study Example

Adrenoleukodystrophy (patient case study format) Introduction (I’ll write this part after finishing the paper) Case Presentation A 15-year-old boy from Alabama, New York was admitted at the East Alabama Medical Center with issue of continuous darkening of the entire body for 12 years already, continuing deterioration of vision for 4 years, abnormal behavior and hearing difficulty observed for last 2 months. At the age of five he began going to school, but was forced to stop because of visual deficiency and low level of attention. Progressively he also began experiencing hearing difficulties. He had one incident of seizure 2 months ago. While confined in the hospital he also exhibited signs of mental illness and experienced vertigo. His previous medical history was average. He was not taking any medications before his hospitalization. There was also nothing unusual in his family background. Test results showed generalized hyper-pigmentation of skin, as well as pigmentation of tongue, gum, and oral mucosa. His blood pressure was stable, and has scattered loss of hair. He has testicular atrophy according to genital tests. Audiometry reports deterioration of sensory-neural hearing in both ears; ophthalmological and neurological tests show bilateral primary optic atrophy. All regular examinations showed normal results, but one test showed high protein, with no alteration in microbiological, glucose, and cell count results. The diagnosis of adrenoleukodystrophy (ALD) was firmly substantiated by the radiological and biochemical results, and medical history. Afterwards, treatment was initiated with prednisolone and antipsychotic. He is currently monitored on a regular basis. Diagnostic Criteria The medical progression in adrenoleukodystrophy is typified by epileptic seizures, poorer hearing, decreased visual capacity, ataxia, behavioral problems, and then psychosis, mental decline, and death. Adrenal deficiency is a common diagnosis, but does not constantly go before neurologic disorder. Unusual skin coloration and other aspects of adrenal deficiency could become noticeable prior to neurological signs. In several instances adrenal signs will under no circumstances reveal itself. The most usual causes of primary adrenal deficiency are either tuberculosis or autoimmune adrenal breakdown; other etiologies like adrenoleukodystrophy are believed to be specifically rare. Adrenoleukodystrophy must be taken into consideration when adrenal deficiency related to neuropsychiatric symptoms is present, similar to the patient under discussion. There are three forms of ALD: “non X-linked neonatal onset (severe); X-linked childhood onset (classic form associated with severe signs and symptoms); X-linked adult onset (less severe than classic form).” The major aspects are adrenal failure or the gradual impairment of the adrenal gland, weakening of peripheral nerves and myelin in brain. With regard to neonatal symptoms both male and female experience adrenal impairment, inflamed liver, fragile muscle tone, retinal deterioration, seizures, facial irregularities, and mental disorder. Usual symptoms of primary neurologic and adrenal impairment in childhood are deafness, problems swallowing, poor verbal communication, seizures, distortions in coordination and posture, hyperkalemia, spasmodic vomiting, and greater skin pigmentation. The usual signs in childhood are behavioral changes such as aggression, worsening dementia, loss of visual capacity, poor academic performance and memory, learning difficulties, and fatigue. Some of these major childhood symptoms were observed in the patient. Etiology of Diagnosis The adrenoleukodystrophy protein (ALDP) assists the human body in breaking down very long chain fatty acids (VLCFA). When such process malfunctions or ceases, the fatty acids accumulate inside the body. This could damage the external cover of the cells in the testes, adrenal glands, brain, and spinal cord. Individuals with ALD have a dysfunctional gene that produces ALDP. In other words, the patient’s body does not produce sufficient ALDP. Males normally develop ALD at an earlier age compared to females and generally experience more serious symptoms. Males are more prone to ALD because it is X-linked. This implies that the gene mutation that brings it about is on the X chromosome. Males have a single X chromosome, whereas females have two duplicates of it. That implies that females can have one healthy gene and one distorted duplicate of the gene. Females with a single duplicate of the mutation have more minor symptoms than males. In several instances they do not experience any symptoms. Their healthy duplicate of the gene produces sufficient ALDP to assist in making their symptoms less noticeable. Majority of females with ALD have adrenomyelopathy. Childhood cerebral ALD and Addison’s disease are quite uncommon. X-linked adrenoleukodystrophy (X-ALD), such as that of the patient, is an incapacitating disorder brought about by distortions in the ABCD1 gene. Roughly 30 percent of affected young males have the continuous, neuroinflammatory phenotype, which is typified by axonal demyelination in the central nervous system, neuromotor problems and usually death. Progress of Diagnosis Childhood X-linked ALD disorders usually develop in boys aged between four and ten. Parents begin to see that the child is experiencing difficulties with hearing and vision, poor academic performance, and behavioral changes. These difficulties can quickly worsen and the child will begin to experience problems in swallowing, talking, and walking. Death will usually take place in a few years after the diagnosis, although certain children survive for much longer. The patient perhaps has been healthy or normal for the initial years after birth. Between the ages four and adolescence, hyperactivity could arise with troublesome behavior, and learning and memory capabilities may be impaired. At times a mild infection can make him extremely weak and sick because of impairment in the adrenal glands. Within a few months or years he will become more and more unstable, incompetent, and, ultimately, become completely dependent or needy. Vision will decline and seizures will occur. The illness is not painful and the patient will be oblivious of what is taking place in the later phases of the condition. The capacity of the brain to control the muscle used for swallowing, coughing, and chewing sooner or later become impaired thus possibly requiring the help of a feeding tube. The patient will experience chestiness and could result in infections and progressive physical defect. In time the combination of physical defect and unhealthy brain becomes severe to preserve life. Parents and healthcare providers will be informed of the child’s growing progressive deterioration, and palliative care interventions can assist in easing pain in those suffering from the illness. The life expectancy, the level of disease progression, and the age of onset of symptoms can differ quite significantly between individuals but, unfortunately, even though several young males may live much longer, many are at risk of being in a state of insensitivity or unresponsiveness in a few months or years of the beginning of symptoms. Individuals whose beginning of symptoms happens between the ages of three and ten have a tendency to experience a faster deterioration than individuals whose beginning is later. Prevalence Read More