Learning to use

Glutaric Acidemia Type 1 at 14 months

A November 2002 account on the Save Babies Through Screening Foundation web site describes M, who became ill at 14 months:

When I tried to awaken M from his nap, he was unresponsive.

M was taken in for a CAT scan. The scan revealed a very large subdural hematoma (bleed) on the right side of his brain.

A 19 May 2002 article in the Inland Southern California Press Enterprise adds:

She didn’t know it then, but M had suffered a seizure.

He also lost the ability to swallow as well as much of his motor and intellectual functioning.  His mother relates that:

“Every time he gets a cold, we have to monitor him,” she says. “We have to get him to the hospital immediately if he has a fever.”

Using the following computable patient summary string:

d=426 &u=f1&o=729 &u=f2&o=729 &u=f195&o=729 &u=f203&o=729 &u=segal_020917182850&o=729 &u=f243&o=729 &u=c0036572&o=729 &u=f0&o=499999 &u=f158&o=399999 &u=segal_100328150817&o=729 &i=1 &t=c

you can see the result in SimulConsult Diagnostic Decision Support with all the findings combined together.  Glutaric aciduria type 1 is by far the leading diagnosis.

The diagnosis of glutaric aciduria type 1 was made after 5 days, but for the first 5 days, the family was not given the benefit of the doubt: 

The moment we arrived at [the medical center] we were treated as if we were monsters having caused such a devastating injury to our son. The police and [Child Protective Services] arrived shortly thereafter and proceeded to interrogate both my husband and myself and then insisted on going to our home a photographing it (they wouldn’t let us stay in the hospital with our son that first night). That same night (unbeknownst to us) CPS (Child Protective Services) made the decision to remove our 2 other children from our home. Now, not only were we scared to death that son may die, we were also scared that we would lose custody of our children permanently.

Seizure, coma and intracranial bleeding will most often be the result of trauma, but medical personnel need to keep in mind that this can also be the presentation of metabolic neurological disease.