How is LGS Diagnosed?
Your doctor will look for these signs to diagnose LGS:
- Seizures that started in early life
- More than one kind of seizure and they hard to control.
- An electroencephalogram (EEG) that shows specific abnormalities.
- Developmental delays or intellectual disability (not required for diagnosis but often present).
There are several useful ways to investigate LGS:
- Generalized paroxysmal fast activity
- Generalized slow-spike and wave discharge
- Cortical malformations
- Tuberous sclerosis
- Acquired brain injury
- There is no characteristic MRI pattern for LGS. The MRI may be normal.
- MRI scans are not all the same. An epilepsy-protocol MRI read by an experienced epilepsy neuroradiologist increases the likelihood of detecting an abnormality if one is present.
- Epilepsy gene panel. This is one of the most common genetic tests for epilepsy. It looks for many different genes associated with epilepsy.
- Chromosomal microarray. This evaluates extra or missing pieces of a chromosome.
- Whole exome sequencing. This can be ordered by a genetics specialist. It evaluates the entire DNA code. It looks for changes in genes associated with epilepsy. Usually it requires a child and both parents to be tested.
- Blood tests
- Urine tests
- Spinal fluid tests
Repeating testing or imaging in older LGS patients can be useful. It can help when an underlying cause has not been determined. It can identify previously missed causes. However, it is not necessary in all cases. Sometimes, genetic testing can be reviewed rather than repeated as knowledge about genetics grows.
Insurance generally covers most tests listed above. Genetic testing coverage varies by state and insurance provider.
Diagnostic Codes for LGS
2016: The LGS Foundation helps LGS get designated ICD-10-CM diagnosis codes used under the Health Insurance Portability and Accountability Act (HIPAA). These codes are important and used by the health care system to track health care statistics, disease burden, quality outcomes, mortality statistics, and billing.
Thank you to the Child Neurology Foundation for allowing us to adapt this article for this site.
Authors: Shaun Ajinkya, MD; Elaine Wirrell, MD, Mayo Clinic – Rochester, Minnesota Reviewed: April 2021
The information here is not intended to provide diagnosis, treatment, or medical advice and should not be considered a substitute for advice from a healthcare professional. Content provided is for informational purposes only. The LGS Foundation is not responsible for actions taken based on the information included on this webpage. Please consult with a physician or other healthcare professional regarding any medical or health-related diagnosis or treatment options.