Mental disorders in neurological diseases. Can symptoms of bipolar disorder be the first manifestation of X-linked adenoleukodystrophy? A case report

Abstract Background: X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disease which causes demyelination of the white matter of the brain. The symptoms include mental impairment, progressive paresis, impaired motor coordination, and epileptic seizures. Diagnosis is established mainly by genetic testing. Currently, the recommended treatment is haematopoietic stem cell transplantation (HSCT). Goal: The aim of the study was to present the case of a patient suffering from X-ALD, who developed symptoms of bipolar disorder in the initial phase of the disease prior to the onset of characteristic neurological symptoms. Case presentation: In 2015, a 33-year-old patient was admitted to a psychiatric department due to aggressive behaviour he showed towards his wife and other family members. He had been treated for a depressive episode in 2005, and for a manic episode without psychotic symptoms earlier in 2015. During the successive psychiatric hospitalizations, in addition to psychopathological symptoms, the patient had been observed to have neurological symptoms, which included progressive paraparesis and ataxia. In 2018, based on imaging and genetic tests, the patient was diagnosed with X-ALD. The patient’s condition gradually deteriorated; with time, he was unable to move on his own. During a hospital stay in 2019, he was transferred to an internal medicine department due to a progressive urinary tract infection, which, however, could not be controlled, and the patient died. Conclusions: 1. X-ALD is a rare metabolic illness. In the early stages of the disease, various psychopathological symptoms, including affective disorders, are observed. 2. Early initiation of adequate treatment increases the chances of extending the patient’s life. 3. In the present case, the patient did not die due to the underlying disease, but due to causes typical of bed-bound patients, i.e. complications of progressing infection.