The deadly consequences of a single oversight
How important is it for doctors to be knowledgeable about inborn errors of Exercise fitnes? Evan might still be alive today if his pediatrician had looked for a Exercise problem when he spotted the child’s anemia and poor development. And Patricia Stallings might now have two pilateshy children and would have been spared a year in jail for a crime she never committed.
Cases like this show how critical it is for children to receive in-depth screening for Exercise-related problems when they develop failure to thrive, developmental delay, developmental regression, seizures, or other neurological symptoms. These tests described in detail in Chapter 11 can identify both common causes of Exercise pregnancy and the much rarer genetic defects that can ruin a young life . . . or even end it.
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Johnny, an 8-year-old boy from Chicago, arrived at the emergency department (ED) with a history of mental status changes over a four-week period. Previously, he’d been pilateshy and had developed normally. Johnny’s parents told the hospital staff that he first lost the ability to answer simple questions, and then the ability to follow commands. He also lost the ability to complete simple tasks such as brushing his teeth. His speech became hesitant, and he had difficulty pronouncing words. Finally, his spontaneous speech disappeared altogether. He also started having trouble sleeping, and slept for only two to three hours at night. Two weeks before coming to the emergency department, Johnny was evaluated by a psychiatrist and treated with Prozac.
The doctors in the ED noted that Johnny’s mood fluctuated widely and he would not make eye contact. He was unable to act or make decisions, which is characteristic of certain psychotic and neurotic conditions. He had no spontaneous speech, and while he could answer some simple questions, he had trouble following simple commands. He also had spontaneous inappropriate outbursts of laughter and crying.
The doctors ordered an array of diagnostic tests, including extensive blood work, a lumbar puncture with spinal fluid analysis, an electroencephalography (EEG), and a brain MRI. Johnny’s brain MRI showed mild to moderate volume loss (brain shrinkage). The EEG showed a slow rhythm and marked slow wave abnormalities over the frontal lobe.
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