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Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
Published on: September 20, 2024
A girl with tuberous sclerosis complex presenting with severe epilepsy and electrical status epilepticus during
Iliyana Pacheva1, Georgi Panov, Christopher Gillberg
1*Department of Pediatrics and Medical Genetics, Medical University, Plovdiv, Bulgaria †Neurology and Neurophysiology Unit, Hospital Stoyan Kirkovich, Stara Zagora, Bulgaria ‡Department of Child and Adolescent Psychiatry, Gothenburg University, Gothenburg, Sweden §Neurosciences Unit, Institute of Child Health, University College London, London, UK ∥Young Epilepsy, Lingfield, Surrey, UK.
Insights
This study presents a rare case of tuberous sclerosis complex (TSC) with autism, who developed normal intelligence but remained non-verbal. The findings explore potential causes for her unique presentation, including epilepsy and mTOR pathway dysregulation.
Area of Science:
- Neuroscience
- Genetics
- Developmental Pediatrics
Background:
- Tuberous sclerosis complex (TSC) frequently presents with epilepsy, cognitive deficits, and behavioral issues like autism.
- Normal intelligence is uncommon in TSC patients with autism.
Observation:
- A 13-year-old girl with TSC exhibited early-onset epilepsy, autistic behavior, and developmental delay.
- She later achieved normal intelligence (IQ ≥ 70) with exceptional abilities (hyperlexia, hypermnesia, hypercalculia) but remained non-verbal.
- Severe EEG abnormalities and extensive brain tubers were noted, alongside mild to moderate autism indicators.
Findings:
- The patient demonstrated preserved cognitive function despite severe neurological abnormalities and autism.
- Mutism was considered in the context of speech apraxia, TSC, autism, or prolonged electrical status epilepticus during sleep.
- Disinhibited mammalian target of rapamycin (mTOR) pathway signaling is proposed as a unifying factor for her neuropsychiatric symptoms.
Implications:
- This case highlights the complex and variable neurodevelopmental outcomes in TSC.
- Understanding the interplay between genetic factors (mTOR), epilepsy, and autism is crucial for targeted interventions.
- Further research into the mechanisms underlying speech arrest and cognitive preservation in TSC is warranted.
Abstract:
Most patients with tuberous sclerosis complex (TSC) suffer from epilepsy, and many have cognitive and behavioral problems like severe intellectual disability, autism, and hyperactivity. Only rare patients with TSC and autism have a normal intelligence quotient. We report a 13-year-old girl with definite TSC who had early-onset severe epilepsy, autistic behavior, and moderate developmental delay. By school age, however, she had normal intelligence; her intelligence quotient was at least 70 based on a Stanford-Binet test that she refused to complete. She showed good reading, writing, and language comprehension skills, and the special abilities of hyperlexia, hypermnesia, and hypercalculia. However, she did not speak. Criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, and her Childhood Autism Rating Scale score of 36 indicated mild to moderate autism. She had severe electroencephalographic abnormalities: hypsarrhythmia, multifocal or generalized epileptiform discharges, and electrical status epilepticus during sleep, with a continuous left temporal focus. Magnetic resonance imaging showed many cortical tubers in all brain lobes, and subependymal nodules. We discuss possible explanations for her lack of speech. Considered as speech apraxia, her mutism could be either a symptom of her TSC or a component of her autism. Another possibility is that long-lasting electrical status epilepticus during sleep led to her autistic behavior and language arrest. Still another possibility is that a disinhibited mammalian target of rapamycin (mTOR) pathway was at the root of all of her neuropsychiatric symptoms.
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