Gaucher Disease

An account by parents on the web site of the Children's Gaucher Research Fund:

By the time R was four months old, he had been diagnosed with a kidney reflux and was having surgery to repair an inguinal hernia. This, along with a slow weight gain, prompted our pediatrician to refer us to a pediatric geneticist, an endocrinologist and a neurologist. After extensive lab tests (all results normal) and examinations by all three physicians, the neurologist diagnosed R with transient hypertonia of infancy, a high muscle tone usually outgrown with therapy by 18 months of age.

At seven months old, R had what the doctors called his first "breath-holding spell" ... It was around this time that R's eyes would occasionally turn in. Once again, we were assured this was common with hypertonia and surgically correctable.

As the months passed ... We were concerned that he was not progressing as fast as was predicted ...

At 15 months old:

R had another "breath-holding spell" and lost consciousness. Within the next few hours he was admitted to the Pediatric ICU ... with a diagnosis of pneumonia. By that evening, he was placed on a ventilator and his enlarged liver and spleen were discovered.

Click here to see the result in SimulConsult Diagnostic Decision Support with all the findings combined together. 

Even at 4 months of age, Gaucher Disease type 2 is listed as the most likely diagnosis by a wide margin, but by 7 months of age no other diagnosis was given a significant probability, though in actuality the diagnosis was not made until shortly before the boy's death at 15 months old.

The Children's Gaucher Research Fund has more family stories here.

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If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.