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Temporary Brittle Bone Disease and Infant Fractures Michael Arnold Glueck, M.D., and Robert J. Cihak, M.D., The Medicine Men Among the glories of modern medicine is an ever more accurate and subtle diagnostic capability. Many conditions and diseases are now treatable because we see them for what they are.
But sometimes we discover that we've created a serious problem with our diagnostic presumptions when we presume accidents to be the product of criminal assault.
Imagine you're a pediatrician. The parents of three of your patients bring in their youngest child, a 3-month-old baby boy. They tell you that after they changed his diaper he wasn't moving his left leg normally. X-rays show an acute fracture of the leg, plus multiple healing fractures of the ribs and the bones about both knees. The radiologist says the healing fractures are about three weeks to three months old and that the pattern is consistent with (or even diagnostic of) child abuse.
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The parents are devastated and deny mistreating the baby. The baby's previous visits to your office were routine. You hadn't seen any signs of trauma or identified any sign of the fractures the radiologist says were present the last two times you examined the baby. The parents' two older children are also your patients and haven't shown any sign of child abuse.
On your physical examination and on lab tests, you don't find any other evidence of injury, such as bruises or internal organ damage. No dietary deficiencies, no genetic abnormalities, no abnormal blood tests, no signs of any other problem or neglect. The social worker says the parents fit a low-risk profile for child abuse.
You can't find any medical reason why the bones are broken. You wonder how you could have missed so many fractures when the baby seemed normal to you at the times the radiologist said multiple fractures were already present. What do you do?
You might be required by law to report every patient the least bit suspicious for child abuse to government authorities. Your report could provoke drastic criminal justice interventions, such as forcibly taking the infant out of the home and jail time for the parents.
This has been happening to parents and other child caretakers ever since the "battered child syndrome" became a popular diagnosis over 40 years ago and the criminal legal system got in gear to prosecute the presumed-guilty parents. If doctors could not find a known disease or other cause for healing fractures or other injuries, the parents or others in contact with the child were presumed to have injured the baby. Doctors were making a purportedly medical diagnosis of intentional child abuse, based on flimsy X-ray evidence. We radiologists forgot that we cannot see or diagnose human intent on our X-rays.
But in 1993, Colin R. Paterson, a Scottish physician at the University of Dundee, reported babies with a condition he called temporary brittle bone disease (TBBD). He saw and reported babies up to 1 year with multiple unexplained bone fractures of different ages who didn't have a history of significant trauma, bruises or internal organ injuries.
On lab and X-ray tests, they also didn't have one of the rare diseases that cause weak bones. The parents denied injuring these babies; further, after the babies returned home and the fractures healed, they didn't show any signs of subsequent child abuse. Paterson's initial observations were not universally accepted, and were often derided or ignored.
Dr. Marvin Miller, Director of the Department of Medical Genetics and Professor of Pediatrics and Obstetrics at the Wright State University School of Medicine in Dayton, Ohio, reported his own personal observations and research at the 2005 annual meeting of the Association of American Physicians and Surgeons.
Dr. Miller confirmed the reality of temporary brittle bone disease, based on his personal experience with 65 babies with the condition. His involvement started eleven years ago when a mother asked Dr. Miller if there were other ways to diagnose brittle bones susceptible to easy fracture if the usual tests didn't make a diagnosis.
Because he knew that standard X-rays can diagnose lower bone density only after it's decreased by at least one-third, he used new and more sensitive techniques. He confirmed lowered bone density in these babies' bones, indicating that they were indeed weaker than normal.
Dr. Miller outlined a plausible theory to account for the condition. In the full-term babies, about half the mothers had prior pregnancies; all these mothers reported that the baby was not as active in the womb as prior babies. He related this limited fetal movement to bone-strength factors identified by Dr. Harold Frost.
He showed that the development of bone strength and size depend on exercise and use. We consider this similar to development of muscle strength that also requires exercise for strength and development.
Put simply: Babies with temporarily brittle bones didn't kick, wiggle and poke around enough while in the womb to develop strong bones. Uterine deformities or a twin cramped the full-term babies; they didn't have enough wiggle room.
The premies didn't have enough "wiggle time" in the womb to develop normal bone strength. But premies given daily physical therapy for a month have 75 percent higher bone density than premies not given therapy, implying a comparable increase in bone strength. In addition, recent research shows that babies lay down 80 percent of bone calcium and density in the last trimester.
Because the bones of a baby with TBBD are weak, they break easily with normal handling, such as during diaper changing, fondling, hugging and medical exams. Fortunately, they do not seem to suffer a great deal of pain from most of these fractures. They also grow out of the condition after they're 6 to 12 months old. The cure seems to be supportive treatment and exercise.
We think of these healing bones as a sign of what might be called an "intrauterine confinement syndrome" in full-term babies; low levels of fetal movement should alert doctors and parents to the possibility that these babies need special care to stimulate normal bone strength and avoid fractures.
In premies, easily broken bones should probably be expected as part of the condition. Based on these initial scientific findings, delicate handling and physical therapy should be considered.
Fortunately, more and more doctors are considering temporary brittle bone disease when they evaluate babies with multiple unexplained fractures and testify at legal hearings. This testimony often causes rejection of a child abuse verdict.
For these babies and their parents, common sense and scientific advances are starting to overcome the presumption of "guilty until proven innocent."
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Editor's Note: Robert J. Cihak wrote this week's column. Contact Drs. Glueck and Cihak by e-mail.
Robert J. Cihak, M.D., is a Senior Fellow and Board Member of the Discovery Institute and a past president of the Association of American Physicians and Surgeons. Michael Arnold Glueck, M.D., is a multiple-award-winning writer who comments on medical-legal issues. Both doctors are board-certified diagnostic radiologists.
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