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. The drug has shown to be most effective in reversing cardiac muscle weakness and less so for skeletal muscles. The two sisters in the article have shown benefit from taking the medication.
As sad as this story is, it demonstrates how important it is for parents to pursue unexplained changes in their children’s health. It would not have been untypical for the mother or even the pediatrician to delay investigating the hair loss thinking perhaps it was seasonal and might go away on its own. Though the cause was not one anyone wanted to hear, thankfully, there is a treatment that can improve these sisters’ quality of life.
An additional note: the movie "Extraordinary Measures" with Harrison Ford is based on a real life family’s struggle to find a cure for their two children with severe Pompe disease. You can view a link to the movie and information about the family here: www.crowleyfamily5.com/extraordinary_measures.htm
Michele is an R.N. freelance writer with a special interest in woman’s healthcare and quality of care issues. Other articles by Michele are at www.helium.com/users/487540/show_articles