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If a male does inherit Barth Syndrome from his mother, he only has a 30% chance of living through his first few years. Of the 30% that are diagnosed, those who seek treatment have an 85% - 90% chance of living in t
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The boys also experience Neutropenia. It is a weakness of the immune system. A doctor was troubled with the case of a 3-week-old male baby admitted for congestive heart failure. This includes all muscles, even the heart. Specifically it’s a reduction in the number of “neutrophils”. After doing this test the patient became moribund, so the doctor gave him large doses of pantothenic acid, a precursor of coenzyme A. Neutropenia places the Barth boys at an increased risk of acquiring serious infections. A neutrophil is a white blood cell, whose responsibility is to fight bacterial infections. If it is not treated, the chances of death are very high, almost guaranteed, with in the first few years. The doctor did an electrocardiogram that revealed an unusual ‘camels hump’ of the T waves and progressive thickening of the left ventricular wall with increasing echogenicity. The earlier it is caught the easier it is to treat. These infections may include bacterial pneumonia and skin abscesses.
Treatment of Barth Syndrome can be tricky.
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