A Case of Tuberous Sclerosis Without Multiorgan Involvement

Area of Science:

• Neurocutaneous Disorders
• Genetics
• Dermatology

Background:

• Tuberous Sclerosis Complex (TSC) is an autosomal dominant neurocutaneous disorder affecting multiple organs.
• Diagnosis is typically clinical, but presentation can vary significantly.
• Early identification is crucial for managing associated complications.

Observation:

• A 15-year-old female with intellectual disability and seizures presented with facial dermatologic findings.
• Neurologic examination was normal, but brain MRI revealed cortical/subcortical tubers and subependymal nodules.
• No cardiac, renal, pulmonary, bone, or ocular involvement was noted; laboratory tests were normal.

Findings:

• The case demonstrates TSC primarily through dermatologic manifestations and intellectual disability, with subclinical neurologic findings on imaging.
• Brain imaging showed characteristic tubers and nodules, despite a lack of overt neurological symptoms or other organ involvement.
• This presentation suggests TSC may be underdiagnosed in patients with intellectual disability and normal organ function.

Implications:

• This case underscores the importance of considering TSC in patients with intellectual disability, even with minimal or atypical physical findings.
• The findings advocate for the development of genetic testing for early diagnosis of TSC, both prenatally and postnatally.
• Reporting similar cases is vital to understand the true prevalence of TSC and improve diagnostic strategies.