Infantile Spasms

Here is a brief description of Infantile Spasms

Infantile spasms usually begin between three months and three years of age. The typical appearance of these seizures consists of a jack-knifing movement and myoclonus. An EEG is done to usually diagnose this disorder and has a certain pattern to look for during this testing. It consist of a hypsarrhythmia pattern with bursts of asynchronous slow waves, spikes and sharp waves alternate with a suppressed EEG.

Also Aircardi syndrome is an X-linked disorder present from birth which is also associated with infantile spasms. These seizures are described as infantile spasms but alternating hemiconvulsions may also be seen. The clinical features of Aircardi's syndrome include coloboma, chorioretinal lacunae, agenesis of the corpus callosum, vertebral anomalies, and seizures.

It is now July and Aubrey has been through four rounds of ACTH. She finished her last round of ACTH in June of 2009. Now at 21 months old she is still not walking but making a lot of progress with her speech therapy and physical as well.

Aubrey's still shows some abnormal activity on her EEG's but no hypsarrhythmia patterns (which is the pattern for infantile spasms) on her testing.

After going through genetics trying to find a cause to the seizures we still have no luck. They did however find a different disorder with Aubrey called Charcot-Marie Tooth (CMT). This disorder is a muscle fatigue disorder that usually does not hit a person until their late 20's. The family is still looking into it so we will keep you posted with more updates.