Niemann-Pick Type A

A 19 December 2004 article "After Baby's Grim Diagnosis, Parents Try Drastic Treatment" in the New York Times describes a baby girl with organomegaly:

Dr. R thought she was humoring her brother at a family gathering last Father's Day when she agreed to examine his 6-month-old daughter, H. The baby's stomach worried him: it felt taut, and too big. Dr. R, a pediatrician, thought her brother was just another nervous first-time father.

"Oh, look at this belly," she said playfully, feeling the baby's middle. A moment later she turned to her husband, who is also a pediatrician, and said, "You have to feel this."

H's liver and spleen were enormously enlarged. It was a sign of serious illness: possibly a tumor, a viral infection or a genetic disorder.

For H's parents, S and J S, the next few weeks became a series of desperate trips to doctors and hospitals.

On July 16, the answer came: H had a rare genetic disorder, Niemann-Pick disease type A.

Niemann-Pick, Tay-Sachs disease and several other genetic disorders are more common in Jewish people with ancestors from Germany, Poland, Austria or Eastern Europe - Ashkenazi Jews - than in other groups, and many Jewish couples seek genetic tests before having children. If both parents are carriers, the fetus can be tested, and if a devastating disease is found, some couples end the pregnancy.

The Ss were stunned by H's diagnosis because Mrs. S had been tested for Niemann-Pick and told she was not a carrier. Later, a test showed that she carried a rare mutation not picked up by the standard test.

This underscores the importance of screening both parents for this autosomal recessive disease, and of the possibility of new mutations in the other parental line.

Her development is still "delayed," her doctors say. At 11 months, she is at about the level most babies reach at 7 months, Dr. S said.

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

Even without any laboratory testing Niemann-Pick disease type A is in the top several diagnoses, and it rises higher when the incidence setting is unchecked.

A bone marrow transplant using cord blood was done, but she died of respiratory failure months after her first birthday.

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