Case Study on Alpers Disease

History of Alpers Disease

Alpers, also known as Alpers – Huttenlocher Syndrome (AHS), is a unique genetic mitochondrial disease. Bernard Alpers first described this disease in 1931 (Rahman, 2020). In 1976, Peter Huttenlocher expounded on the phenotypes (Chourasia et al., 2020). Bernard Alpers described the condition as a spread-out, continuous degeneration of the cerebrum’s grey matter with uncontrollable generalized seizures. According to AY 2019, Huttenlocher described Alpers as a novel disorder of ongoing neurodegeneration and hepatic malfunction.

Etiology of the Syndrome

Alpers – Huttenlocher syndrome is a mitochondrial disorder caused by a recessive mutation in the POLG1 gene (Rose & Khalili, 2021). Damage to the polymerase gamma results in the depletion of mitochondrial DNA. A decrease in the number of the mitochondria leads to the dysfunction of several organs; the liver, the central nervous system, and the skeletal muscle, since they require high energy levels for proper functioning. However, the most affected organs are the liver and the brain.

Incidences and Types of the Disease

The onsets of Alpers disorder have been discovered to occur in early infancy and adulthood. There are three forms of the disease, depending on the age; neonatal, infantile, and juvenile (AY, 2019). The neonatal form occurs in infants between two to four years and can cause death before the infant turns two years. The Juvenile form appears between ten and twenty-seven years. However, the infantile form is the most common Alpers- Huttenlocher disorder. Therefore, there are hardly any cases of juvenile and neonatal conditions.

Symptoms of the Disease

The symptoms of Alpers disease are progressive. The first common symptom of the illness is status epilepticus. The patients then start vomiting and become jaundiced. An infant was hospitalized with status epilepticus symptoms; later on, her condition deteriorated as her mental health worsened, which led to her death (Al-Qahtani et al., 2021). Other common symptoms include dementia, visual impairment, migraines, spasticity, and epilepsy, leading to premature death.

The Disease Process

A mutation in POLG1 causes Alpers disease. Due to the depletion of mitochondrial DNA, energy metabolism is impaired. The energy demand in most organs is not met. This causes dysfunction of these organs. The patient experiences psychomotor retardation, liver failure, and brain damage. The onset of seizures leads to other complications (Al-Qahtani et al.,2021). The patient shows signs of developmental regression and bouts of sickness, followed by more symptoms that worsen the condition.

Diagnosis Test and Procedure

In the diagnosis of AHS, genetic analysis and a background check on the medical history of the patient’s family is essential. First, clinical tests and presentations are carried out in the case of hepatopathy or seizures. A liver biopsy, POLG sequencing, or an autopsy examination is done if these symptoms are not prevalent (Al-Qahtani et al., 2021). Signs of developmental regression result from mitochondrial depletion, which is detected by a skeletal muscle biopsy. In the case of dementia or mental illness, cerebral volume loss is tested through an MRI scan; if the patient suffers from Alpers, the result will show a mass of grey matter. Also, if the patient has symptoms of jaundice indicating liver failure, a liver biopsy is done. According to AY 2019, POLG mutation screening should be carried out early in advance to avoid valproic acid, which leads to liver failure, if the tests are positive.

The Importance of Prognosis

The prognosis of AHS is essential for both the patient and the family. Symptoms can be managed, and treatment of various findings can be done. The forecast also helps the family seek guidance and counseling on future births and family planning. However, research shows that the prediction of the disease is poor, resulting in untimely deaths (AY, 2019). Therefore, a proper prognosis is essential since AHS has no cure and is only limited to symptom management.

Additional Information

Lately, the treatment of Alpers has been encouraging and alleviating; experts are working toward viable treatment. Clinicians and nurses help the Alpers patients live longer and relieve pain. Websites such as www.clinicaltrials.gov contain information on trials made by clinicians. In addition, organizations such as the Genetic and Rare Disease Information Center can aid families with Alpers patients. Support groups also provide advice to the families.

References

Al-Qahtani, S. M., Asiri, I. A. A. Z., Albulym, O. M., & Otaif, M. Y. (2021). Refractory Status Epilepticus as the First Presentation in an Infant with Alpers Disease. Bahrain Medical Bulletin, 43(4).

AY, K. (2019). Alpers–Huttenlocher syndrome presenting with epilepsia partialis continua. J Neurol Stroke, 9(1), 29-32.

Chourasia, N., Burks, D., Bhattacharjee, M., Patel, R., & Gourishankar, A. (2020). Alpers-Huttenlocher syndrome. Consultant, 60(5), e9.

Rahman, S. (2020). Mitochondrial disease in children. Journal of internal medicine, 287(6), 609-633.

Rose, H. R., & Al Khalili, Y. (2021). Alpers-Huttenlocher Syndrome. In StatPearls [Internet]. StatPearls Publishing.