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Related Experiment Video

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Author Spotlight: Repetitive Transcranial Magnetic Stimulation Combined with Movement Observation in Cerebral Palsy

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Tuberous Sclerosis Complex in a 17-month-old: A Case Report.

Sarjan K C¹, Anjana Bohaju¹, Sunil Raja Manandhar²

¹Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.

JNMA; Journal of the Nepal Medical Association

|July 19, 2023

Summary

Tuberous sclerosis complex, a genetic disorder, can cause subtle seizures. Early diagnosis is crucial for managing this condition and preventing refractory epilepsy.

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Area of Science:

Genetics
Neurology
Oncology

Background:

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder.
It stems from mutations in tumor suppressor genes TSC1 or TSC2.
This leads to mTOR pathway hyperactivation, affecting multiple organs, especially the CNS.

Observation:

A 17-month-old female presented with abnormal movements and loss of consciousness.
Magnetic resonance imaging confirmed a diagnosis of tuberous sclerosis.
The patient experienced generalized jerky movements.

Findings:

TSC presents with a triad of facial angiofibroma, intellectual disability, and epilepsy.
Subtle seizures in TSC often lead to delayed diagnosis and management.
This delay can result in the development of refractory seizures.

Implications:

Prompt diagnosis and management are vital for TSC patients.
Understanding the genetic basis aids in targeted therapies.
Further research into early seizure detection is warranted.