Year: 2026
Type: article
Study design: Case Report
Abstract: A 33-year-old man with genetically confirmed X-linked adrenoleukodystrophy developed progressive irritability, emotional lability, anger outbursts, repetitive reassurance-seeking, and insomnia alongside worsening spastic paraparesis and urinary symptoms. Difficulty recalling familiar names and remembering and completing assigned tasks subsequently impaired occupational functioning. Collateral history established a departure from his calm and socially appropriate premorbid personality. Behavioral examination revealed overfamiliarity, disinhibited language, emotional lability, impaired judgment, and perseverative illness-related preoccupation. Cognitive examination demonstrated impaired attention, set-shifting, verbal fluency, inhibitory control, new learning, and recent recall, while neurological examination revealed pyramidal signs and a spastic gait. Brain magnetic resonance imaging showed symmetrical posterior cerebral white-matter hyperintensities, and genetic testing identified an ABCD1 c.323C>A variant. The temporal association with neurological progression, acquired behavioral change, cognitive impairment, and characteristic imaging abnormalities supported secondary mood syndrome with accompanying behavioral and cognitive manifestations rather than a primary depressive episode or adjustment disorder. Irritability, sleep, and anger outbursts improved during approximately one week of inpatient treatment with supportive intervention, low-dose quetiapine, and sodium valproate, although post-discharge follow-up was unavailable. This case emphasizes that new affective, behavioral, or cognitive symptoms in cerebral white-matter disease should prompt collateral history-taking, cognitive and neurological examination, and reassessment for disease progression.
Source: Cureus
Institutions: Armed Forces Medical College, Southern Command Hospital
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7215113973