[Bourneville's tuberous sclerosis in twin sisters]

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Tuberous sclerosis is a genetic disorder causing tumors in various organs, including the brain.
• Early-onset seizures and cognitive impairment are common manifestations in tuberous sclerosis complex.

Observation:

• Presents a case of female homozygous twins diagnosed with tuberous sclerosis.
• Both twins exhibited early-onset focal and generalized seizures, including infantile spasms.
• Skin manifestations (hypomelanotic spots) were minimal in both patients.

Findings:

• Computed tomography revealed extensive cerebral calcifications in both twins from early infancy, with increasing density over time.
• Seizure control was partially achieved in one twin, who also presented with a slightly lower IQ compared to her sibling.
• Both twins demonstrated significant mental retardation, highlighting the severe neurological impact of tuberous sclerosis.

Implications:

• This case underscores the variable clinical presentation and severity of tuberous sclerosis, even in genetically identical individuals.
• Highlights the correlation between seizure control, intellectual outcome, and the progression of cerebral calcifications.
• Emphasizes the importance of early diagnosis and comprehensive management strategies for tuberous sclerosis to mitigate neurological deficits.