Genetic Disorders Expert Forum
Lennox Gastaut Syndrome
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Lennox Gastaut Syndrome

Born at 32 weeks, wgt 3 lbs 15 oz, 18 " head circumference 15"
Nicu stay for 3 weeks, uneventful, O2 by NC first 24 hours. Progressed from nippling to breast feeds at 3 weeks
Delays noticed by 6 mos, no rolling, crawling, babbling, waking every 2 hrs at night.  

Ped it was due to preemie, referred for therapy
12 mos to ped neuro.  Ordered MRI
MRI of brain show  (delayed) myelination, nothing else
15 mos new ped neuro, additional OT, PT and speech therapy ordered.
16 mos noticed eyebrow raising in rapid succession a few times a day, informed ped and was told it was a tic.
over 2-3 week period eyebrow raising increased, eyes rolled back slightly dropped head couple of times.
Neuro:  EEG scheduled in 3 weeks.
EEG abnormal, seizures of a slow wave recorded, admiited to childrens hosp where labs, lumbar punctures, metabolic and chromosome testing done. 2nd MRI, no significant changes.  Told her seizures probably under the Cerebral Palsy "umbrella".
Depakote and Topamax started for over 100 seizures per day, all as described above.  Seizures slightly improved, but not gone.  Referred to GI for low weight, follow-up with neuro.
GI: added appetite stimulant to meds, making Trinity sedated.
Neuro: d/c Depakote and Keppra added.  Meds making Trinity floppy, sedated.  Had two episodes of staring seizure.  Readmitted to hospital, CT brain, nothing seen.  Meds adjusted, 2nd EEG videotaped with slow wave and peak, and during sleep.  Neuro giving Lennox Gastaut Syndrome as dx.

Meds increased, still 30 seizures a day when awake. Still wakes every 2 hours. Rolling, cannot pull herself up to sit, but can sit unassisted for 5 minutes, but will fall if not lowered to ground. Shakes head no when finished eating. Starting to army crawl a little.
Neuro recommends GT for Ketogenic diet since seizures not resolving with meds.

Referred to geneticist. Not till Dec.

Is Lennox Gastaut genetic?  What factors lead to this dx and could it be something else.  What can a geneticist tell us?



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Given your child's problems, we recommend that your child meet with the medical geneticist for evaluation. A medical (clinical) geneticist is a doctor who specializes in genetic disorders. A medical geneticist will perform a physical exam on your child as well as review all your child's test results, your pregnancy history and the family history.

A clinical geneticist looks for signs and symptoms that may be caused by an underlying genetic syndrome. A diagnosis of a genetic condition can provide information about the appropriate management, treatment and prognosis of a disorder as well as information about the chance for the disorder to happen again in a family.

We wish your family the best.
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