Tuberous Sclerosis Complex Mimicking as Recurrent Seizures and Cervical Fracture in a 41 Year Old Woman: A Rare Presentation
Aleena Sharif1, Ali Zubair2, Husnain Ahmad4, Dr wishad Waris2, Dr Kiran Iqbal5, Muhammad Haseeb Ahmad2, Dr Muhammad Sohaib anwar3
1Sheikh Zayed Hospital, Lahore, 2Sheikh Zayed Medical College, Rahim Yar Khan, 3Neurosurgery, Sheikh Zayed Medical College, Rahim Yar Khan, 4Shalamar Medical and Dental College, Lahore, 5Bakhtawar Amin Medical and Dental College, Multan
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.
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.
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