Stimulant Treatment of Emergent ADHD Phenotype in Adolescent Batten Disease: A Case Report

Background: Neuronal ceroid lipofuscinosis type 3 (CLN3), also known as juvenile Batten disease, is a rare neurodegenerative disorder characterised by progressive visual loss, cognitive decline, and behavioural disturbance. Neuropsychiatric symptoms are common and are generally attributed to global neurodegeneration. Secondary attention-deficit/hyperactivity disorder (ADHD)—the emergence of ADHD symptoms following the onset of a neurological condition—has not previously been reported in CLN3. Nor has stimulant treatment of secondary ADHD in CLN3 been previously reported. Case presentation : We describe a 15-year-old boy with CLN3 who developed progressive inattention, impulsivity, emotional dysregulation, and behavioural aggression during early adolescence, in the absence of any childhood history consistent with primary ADHD. Neuropsychological assessment demonstrated evidence of reduced cognitive ability with disproportionate impairment in attention, working memory, and executive functioning. By age 13 his symptoms caused significant impairment across home and school settings. A diagnosis of secondary ADHD associated with CLN3 was made. Treatment with methylphenidate resulted in marked improvements in attention, aggression, school engagement, and had good tolerability. Conclusions: This case highlights a previously unreported presentation of secondary ADHD in CLN3 and demonstrates that stimulant treatment may be effective in selected adolescents with this condition. Clinicians should be alert to the possibility of treatable secondary ADHD in CLN3.