Missed tuberous sclerosis complex with multi-system complications in a single patient

Area of Science:

• Genetics and rare diseases
• Neurology
• Oncology

Background:

• Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with diverse clinical features.
• Early diagnosis in pediatric patients relies on identifying skin lesions and neurological symptoms.
• Delayed diagnosis increases risks of severe morbidity and mortality due to progressive complications.

Observation:

• This report details a case of tuberous sclerosis complex diagnosed in adulthood.
• The patient presented with multi-systemic complications affecting the central nervous, renal, and respiratory systems.
• This contrasts with previously documented pediatric cases focusing on single complications.

Findings:

• Adult-onset TSC can manifest with severe, multi-systemic involvement.
• Diagnostic imaging plays a crucial role in identifying TSC complications.
• The case underscores the potential for significant disease progression in undiagnosed adult TSC patients.

Implications:

• Highlights the importance of considering TSC in adult patients with unexplained neurological, renal, or respiratory issues.
• Emphasizes the necessity of a multidisciplinary approach for comprehensive TSC management.
• Suggests a need for increased awareness and diagnostic vigilance for TSC in the adult population.