Ten-year-olds are not supposed to lose their hair unless something is wrong. The New York Times magazine features a weekly column about unexplained medical mysteries and the April 10, 2011 issue presented this case of unexplained hair loss in a child. The only other symptom the girl had was that she seemed more tired. The girl’s mother took her daughter to her pediatrician. Nothing unusual was found at first, but a lab test did show that the girl had elevated enzymes in her liver.
A pediatric liver specialist, Dr. Elizabeth Rand, at Children’s Hospital in Philadelphia, then examined the girl. Rand explored whether the girl had an inherited liver disease by running tests for a missing protein and she checked CPK enzyme levels, which can become elevated if a person has muscle injuries. The girl’s liver protein test came back negative but her CPK levels were four times normal, indicating that something in her body was causing muscle damage, not liver damage.
Rand sent the girl to Dr. Carsten Bonneman, a pediatric neurologist, who took a muscle biopsy. He found that the girl had Pompe disease, an inherited disorder that affects the body’s ability to break down glycogen (the stored form of sugar) into glucose (the form of sugar our body uses). As glycogen accumulates, it damages the muscles of the heart and skeletal system. Because it is a genetic disease, the girl’s siblings were tested and one sister also tested positive for Pompe disease.
There are two forms of Pompe disease: “infantile” and “late-onset”. The infantile form is more severe and typically occurs in the first few months of life causing life threatening heart and muscle disease. Those children do not usually live past their first or second year. The “late-onset” form typically appears as muscle weakness in adolescents or adults. It progresses more slowly and the heart muscle weakness occurs less often. Pompe disease is very rare, only affecting one in 40,000. It is unknown why hair loss can occur.
Treatment for Pompe disease involves receiving regular intravenous infusions of alglucosidase alfa (Myozyme), a synthetic version of the missing enzyme.