Epileptic Seizures Revealing Tuberous Sclerosis of Bournville in a Tropical Environment: A Study of 12 Case Series
Mamadou Diallo1, Souleymane M'bara Diallo2, Mariama Boubacar Diallo3, Amara Cisse2
1Neurology, Carle Foundation Hospital, Urbana, Illinois, 61801, 2Neurology, 3Cardiology, Hospital National Ignace Deen
Objective:
Enhance recognition and management of epilepsy in sub-Saharan Africa by improving medical attention and multidisciplinary care for neuroectodermal conditions.
Background:

Epilepsy remains a significant public health concern in sub-Saharan Africa (SSA) where diverse etiological factors contribute to its prevalence. Among these factors are conditions originating from the neuroectoderm, such as tuberous sclerosis. Insufficient medical attention and a lack of comprehensive multidisciplinary care contribute to its under-recognition.



Design/Methods:
We conducted a retrospective cross-sectional study of 518 patients hospitalized for recurrent epileptic seizures between 2010 and 2022. Twelve patients (7 boys and 5 girls) were diagnosed with Tuberous Sclerosis using the Schwartz 2007 criteria. All patients underwent extensive testing, including blood tests , lumbar puncture for cerebrospinal fluid analysis, and PCR tests for various viruses along with measles antibody assays. Each patient had at least two EEG tracings. CT scans and MRIs were performed for all patients.

Results:

During the study, twelve cases involving seven boys and five girls (aged 13 months to 14 years) were documented. All consultations were triggered by epileptic seizures, many suggesting frequent status epilepticus due to inadequate treatment. Family history showed paroxysmal episodes in parents of four cases, though details were lacking. Dermatological signs included facial angiofibroma in two patients and shagreen patches in one. Five patients had West syndrome, three had Lennox-Gastaut syndrome, and four experienced partial seizures that became generalized. Nine patients had neurodevelopmental disorders like autism and delayed development. A cardiac hamartoma was diagnosed in one patient. Two cases involved intracranial aneurysms associated with subependymal giant cell astrocytomas (SEGA). Cognitive impairments worsened due to delayed treatment. Autism was noted in four patients, and one case showed normal development

Conclusions:

The study reveals a consistent clinical presentation accompanied by deteriorating neurological and psychological symptoms attributed to delayed multidisciplinary management. These findings are utilized to assess therapeutic strategies and prognostic outcomes.



10.1212/WNL.0000000000210336
Disclaimer: Abstracts were not reviewed by Neurology® and do not reflect the views of Neurology® editors or staff.