Management of mitochondrial leukoencephalopathy-related ataxia and cognitive impairment in a primary health care setup

Abstract

Abstract Rationale: Ataxia is defined as an impaired coordination of voluntary muscle movement. In cases of slowly progressing ataxia in young people, we should first consider a genetic origin. Herein, we describe the case of a 25-year-old patient with severe and advanced neurological disease which was diagnosed and treated by a family medicine physician, leading to the discovery of a new form of hereditary ataxia. Patient concerns: In 2016, a 25-year-old professional driver arrived at our family medicine office with a gait disorder that he had been struggling with for the past 5 years. During clinical examination, gait ataxia was evident. In 2018, the patient returned to our family medicine office, with difficulty in speaking and could no longer retain urine. During the examination, he was not oriented in time and space, no longer recognized the staff, and responded only in a few words. Clinically, we observed postural and action tremors, bradykinesia, and increased muscle tone. Diagnoses: The patient was sent to a neurologist for further management. There, a magnetic resonance imaging scan of the head was prescribed, leading to a diagnosis of adrenoleukodystrophy; however, genetic testing and biochemical analysis performed in 2016 did not confirm that. With additional testing in 2018, we confirmed a hereditary mitochondrial leukoencephalopathy (the identified version c.2884C>T in the AARS2 gene has not been previously reported as a pathogen in relation to human diseases). Interventions: Unfortunately, no specific treatment is available, therefore, the reluctance of neurologists to provide treatment is understandable. Family medicine doctors are long-term companions to patients and are sometimes the only support for them and their families when it comes to such an incurable disease. Outcomes: Currently, the patient only needs palliative care. The diagnostic path was completed but no specific therapy is in view. Lessons: Our case shows a 25-year-old patient with severe and advanced neurological disease diagnosed and treated by a family medicine physician. Family doctors play an important role due to their long-term relationship with the patient and the comprehensive care they provide, even in cases where the disease is severe, and the prognosis is unfavorable.