Missed for years: tuberous sclerosis complex presenting as status epilepticus with tuberous sclerosis complex associated neuropsychiatric disorders in an adolescent girl

Abstract

Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder commonly presenting with seizures in early childhood. Delayed diagnosis remains frequent in resource-limited settings. Presentation as status epilepticus during adolescence, particularly with prominent TSC-associated neuropsychiatric disorders (TAND), is uncommon and underreported. A 16-year-old adolescent girl presented with generalized convulsive status epilepticus. She had a history of untreated recurrent seizures since the age of 10 years, along with significant cognitive, behavioural and adaptive functioning impairment. Physical examination revealed multiple characteristic cutaneous stigmata suggestive of TSC. Neuroimaging demonstrated cortical tubers and subependymal nodules and abdominal ultrasonography revealed a renal angiomyolipoma, confirming the diagnosis of TSC. The patient was managed as per standard status epilepticus protocols, resulting in seizure control. Comprehensive evaluation identified significant neuropsychiatric manifestations. Formal screening using the TAND-L checklist revealed multi-domain involvement, including intellectual, behavioural, neuropsychological and psychosocial domains. A multidisciplinary management plan including optimization of antiepileptic therapy, behavioural interventions, low dose risperidone, caregiver counselling and neurodevelopmental follow-up was initiated. This case highlights the consequences of delayed recognition of TSC, where missed neurocutaneous markers resulted in late diagnosis and life-threatening neurological presentation. It underscores the importance of systematic screening for TAND in all individuals with TSC and emphasizes the need for heightened clinical vigilance and multidisciplinary care to improve long-term outcomes.