Magazine article The Exceptional Parent

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Magazine article The Exceptional Parent

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Each month, a physician reviews Search & Respond for accuracy and completeness. In the past, our Ask the Doctor columnist, David Hirsch, MD, has provided this service. We appreciate his time and help in coordinating Search & Respond, a very important and often very complex column. In recent months, Chris Feudtner, MD, PhD, has taken over the task. We are pleased to welcome Dr. Feudtner who is a pediatrician at the Pediatric Care Center of the University of Washington in Seattle, and is currently a Robert Wood Johnson Clinical Scholar. Starting with this issue, we will include Dr. Feudtner's comments on certain Search & Respond letters.

Probable metabolic disorder I have a 2 1/2-year-old son who currently doesn't have a diagnosis. When he was born, he was sent to a children's hospital because of projectile vomiting. After about five days, he could keep down 2 oz of formula per feeding and he was discharged. When he was about 6 months-old, he had obvious delays in development. An MRI showed global damage in the white matter of the brain. The developmental pediatrician gave him a diagnosis of cerebral palsy secondary to probable mitochondrial encephalopathy.

My son is very hypotonic (has low muscle tone). He currently functions at the level of a 6 month-old. He cannot walk, crawl, or talk. He can sit, but he cannot stop himself from falling over. He also displays some characteristics of autism such as obsessive mouthing, but he loves to be held and cuddled. He also has severe constipation problems, reflux, and cortical visual impairment.

The doctors now think he has a metabolic disorder. They recently repeated a set of tests on his blood and urine. (These tests were done at 6 months and all were normal). They also repeated the MRI and EEG. The EEG showed constant seizure activity, but his repeat MRI is now normal. It showed a decreased myelination but not enough to be abnormal. (Myelin is a white, fatty sheath that surrounds nerve fibers and helps transmission of messages along the nerve.) The blood work was normal, except, that his lactic acid (a waste product of cellular metabolism) was high at 3.8. At one time, we thought he might have fragile x. We have had a chromosome workup done and everything was normal on a FISH (fluorescent in situ hybridation) test. (The FISH test is used to diagnose chromosome abnormalities). …

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