Abstract Details

Title Tuberous Sclerosis Complex Mimicking as Recurrent Seizures and Cervical Fracture in a 41 Year Old Woman: A Rare Presentation

Topic Neuro-oncology

Presentation(s) P8 - Poster Session 8 (11:45 AM-12:45 PM)

Poster/Presentation
Number 6-010

Objective NA

Background Tuberous Sclerosis is a rare, autosomal dominant disorder involving the genes TSC1 and 2. It is a multisystem, neurocutaneous disorders usually presenting in childhood causing hamartomas in skin ,brain and organs such as liver, lungs and kidney. Here, we describe a rare case TSC involvement in a 41 year old woman presenting with cervical fracture post seizure fall.

Design/Methods NA

Results A 41-year-old woman with a lifelong history of epilepsy treated with divalproex sodium developed quadriplegia after a generalized tonic–clonic seizure and fall. On presentation, she had 0/5 muscle strength in the lower limbs, 2/5 in the upper limbs, sensory loss below C5, and mild respiratory distress.

Emergency imaging showed a cervical spine fracture, and anterior cervical discectomy and fusion (ACDF) was performed with successful stabilization. Following surgery and recovery, a thorough evaluation began to determine secondary causes of epilepsy.

Physical examination was notable for the presence of several facial angiofibromas and hypopigmented macules on the lumbosacral area. Neurological examination did not present with focal neurological deficits or developmental delay. Brain CT revealed subependymal nodules along the ventricles and numerous cortical and subcortical tubers, the presentation of which is diagnostic of Tuberous Sclerosis Complex (TSC).

No comorbidity or family history was present. TSC was diagnosed according to clinical dermatologic and radiologic criteria. Antiepileptic treatment was optimized, and the patient is under follow-up in dermatology and neurology clinics.

Conclusions This case underscores the recognition of TSC in a patient with long-standing epilepsy, emphasizing the importance of comprehensive evaluation of secondary causes of seizures even in previously established cases. There should be a narrow index of suspicion for genetic evaluation especially with the coexistence of neurocutaneous findings in seizure patients.

Authors/Disclosures
Aleena Sharif, MBBS PRESENTER	Dr. Sharif has nothing to disclose.
Ali Zubair, MBBS	Dr. Zubair has nothing to disclose.
Husnain Ahmad, MBBS	Mr. Ahmad has nothing to disclose.
Dr wishad Waris, Ms	Dr. Waris has nothing to disclose.
Dr Kiran K. Iqbal, PT	Dr. Iqbal has nothing to disclose.
Muhammad Haseeb Ahmad, MBBS	Dr. Ahmad has nothing to disclose.
Dr Muhammad Sohaib anwar, MBBS	Dr. Sohaib anwar has nothing to disclose.

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