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A subtle case of tuberous sclerosis complex.

Hitoshi Nakano1, Atsushi Otsuka2, Masako Kinoshita3

  • 1National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan ; Department of Neurology, Utano National Hospital, National Hospital Organization, Kyoto, Japan.

Epilepsy & Behavior Case Reports
|November 7, 2015
PubMed
Summary
This summary is machine-generated.

Tuberous sclerosis complex (TSC) can cause epilepsy and cognitive impairment, sometimes with delayed diagnosis. Early evaluation for TSC is crucial in patients with mental retardation and epilepsy.

Keywords:
AngiofibromasCortical tubersEpilepsySubependymal nodulesTuberous sclerosis complex

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Area of Science:

  • Neurology
  • Genetics
  • Dermatology

Background:

  • Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the development of hamartomas in multiple organs.
  • TSC often presents with neurological manifestations, including intractable epilepsy and cognitive impairment, but diagnosis can be challenging in milder cases.

Purpose of the Study:

  • To report a case of Tuberous Sclerosis Complex (TSC) diagnosed in adulthood based on specific clinical and imaging findings.
  • To emphasize the importance of considering TSC in patients with epilepsy and cognitive deficits, even with atypical presentations.

Main Methods:

  • Case report of a 26-year-old female with a history of intractable focal seizures since infancy.
  • Clinical evaluation including neurological examination, skin biopsy for angiofibromas, brain imaging (MRI), EEG, and SPECT.
  • Diagnostic criteria for TSC were applied based on the presence of major and minor features.

Main Results:

  • The patient presented with intractable epilepsy, mental retardation, and facial angiofibromas, fulfilling diagnostic criteria for definite TSC.
  • Brain imaging revealed multiple cortical tubers and malformation of cortical development; EEG showed epileptiform discharges.
  • Lamotrigine was effective in controlling seizures, and truncal CT showed lumbosacral joint sclerosis.

Conclusions:

  • This case highlights that TSC should be suspected in individuals with epilepsy and cognitive impairment, even without classic stigmata.
  • Thorough evaluation, including neuroimaging and dermatological assessment, is essential for timely TSC diagnosis.
  • Prompt diagnosis and appropriate management, such as with lamotrigine, can improve seizure control in TSC patients.