How the State of Oregon Kidnapped Our Son

Unexplained Injury

On November 8th, 2011 we noticed my son was feeling some pain and was running a low grade fever (100.2° F). I was concerned so I called an advice nurse that my wife's insurance provided. The nurse on the line was very polite and recommended that we go to the ER because my son was only five weeks old. Her concern was that at that age a fever could mean something was seriously wrong and we needed to have it examined.

The First Hospital 

We went to the local hospital in our home town to see a doctor there. Upon arrival the triage nurse performed her introductory evaluation, noting that there were "no bruises, swelling, or any external abnormalities" while also noting that "all four extremities are moving strongly and equally." 

We were brought to a room in the ER where a doctor performed a number of tests. This included a hip flexing check and saw that the legs were pulled up tightly towards the abdomen. He explained that sometimes when babies have abdominal pain they'll pull their legs in tightly. While the doctor manipulated my son's legs he let out a very loud scream, quite unlike we had heard before. This was very different than the experience with the triage nurse just minutes before.

The doctor ordered an x-ray to view my son's abdomen and hips. The doctor's belief was that their could possible be an obstruction in my son's intestines causing the pain. 

The X-Ray Technician

My wife needed to return home at this point. In our haste to get to the ER we had forgotten to bring a change of clothes and diapers, and while there our son soiled his outfit. I stayed and the x-ray technician came in to take a number of images. At one point while we were moving my son the x-ray technician looked at me in a confused way and asked if the doctor had mentioned anything about my son's left leg. I replied that he hadn't other than a possible abdominal issue. 

The technician left after taking his initial x-rays, and came back half an hour later. He was told to take specific pictures of the leg. He then came in again one more time after another half an hour to take a clearer picture of the leg. My wife had returned at this point and the Doctor came in and told us that our son had a spiral femur fracture (We later learned that it was actually an oblique fracture and not a spiral). The doctor informed us that as protocol he had to notify the authorities and an investigation would take place. (It was also noted that he had gaseous distention from the x-rays)

The First Police Office

We spoke to the police officer that came to see us and explained that there hadn't been anything traumatic that happened. Nobody dropped him, no one fell with him, nothing happened. While we spoke to the police officer we mentioned we came in because our son was having abdominal pain, thought to be bad gas, and a low grade fever. We mentioned that he had no bruises (which was confirmed by a nurse that was in the room at the time) and we told him we had no idea there was a fracture. Our son hadn't screamed in pain as he did until the doctor manipulated his leg.

My son was only mildly more fussy than normal prior to our visit, and as young parents we thought that as long as he was eating he was okay. The night before we also noticed a fever and we went to the store so he could have baby Tylenol and Gripe Water (Natural medicine to reduce gas). This seemed to work as it lowered his temp and calmed him down.

The Children's Hospital

The Children's Hospital was notified. Their EMT crew and a pediatrician arrived and wrapped up my son's leg. My son was transferred to the Children's Hospital in an ambulance with my wife. I had to run home and pick up some things for my son, and then I drove out there myself. 

While in the ambulance, my wife was able to hear a pediatrician and an EMT discuss that they thought this was clearly abuse and that it was only protocol to bring a parent. When they arrived at the Children's Hospital a complete trauma workup was performed on my son. It was noted again that there were no bruises, swelling, lesions, abrasions, and that my son was content beyond his leg. It was noted that my son had extra cartilage on his skull but it was not trauma related, and I remember wondering what that meant. My son showed no symptoms of being in any pain or distress, though he did have a low grade fever. 

My wife had been advised to ask the ER doctor what could cause such injuries in an infant. She was rudely told that "It was either child abuse or you're lying (about there being no accident)." 

My son was sent to have a head CT done immediately. His results came back perfectly normal. There was no bleeding on the brain, no hemorrhaging, no skull fractures, or signs of trauma. My wife requested that a new doctor be placed with our son after the encounter with the previous doctor, and was given an advanced resident to look over our son. A full blood workup was run, including a spinal tap, to check for infection because of his low grade fever. My son, minus the blood drawing, remained content, fed well, and soothed easily. It was very hard for the doctors to draw blood from our son, and it took quite a lot of time for them to finally get anything, causing my son great pain in the process. On the spinal tap, one of the residents missed the spinal fluid and hit a vein, causing blood to become mixed in with the spinal fluid. They also took new x-rays while in the Children's Hospital ER. Even after taking the blood, a number of tests were lost or not valid. 

The Inpatient Room

We were eventually moved to an inpatient room. They tried to draw more blood during the night, but they didn't tell us what the blood was being drawn for. We were also informed not to feed our son throughout the night so they could reset the bone, and he cried through the night in hunger pains. We followed the directions we were given. Despite all this, he wasn't given any medication because he was still soothing himself. The room was very cold at night, yet my son maintained a high temperature and was even sweating. None of the nurses adjusted the temperature at night, nor did they tell us how. 

In the morning a new nurse came in and said my wife could feed our son. They took a full skeletal survey in the morning where they noted a number of fractures. These inculded:

• An acute left femoral diaphysis angulated oblique fracture, 
• Age-indeterminate bilateral distal femoral, 
• Probable left and right proximal tibia metaphyseal corner fractures, 
• Probable age-indeterminate left proximal humeral metaphyseal corner fracture, 
• Probable partially healed proximal right tibia and fibula fracture, 
• And healing bilateral rib fractures (Probably three). 

Note, the only fully confirmed fracture has been the left femur fracture and an age-indeterminate posterior rib fracture. This is also the point where they say it was on oblique fracture and not a spiral. A doctor came in to look at my son's eyes. She saw no retinal hemorrhaging, but noticed a mild discoloration in his eyes. She called in a superior who also noted that there was nothing wrong with his eyes, but that he did have mild discoloration. Again, My son was only 5 weeks old at the time. 

My son had seen many different doctors in this time, all noting that he look healthy an happy. My son had been in for a 1 week check, 2 week check, at about 3 1/2 weeks he was circumcised, he had visited the hospital twice because he was jaundice, and my wife's midwife had also seen him during one of her post birth visits the day before we went to the hospital.

They attempted to draw more blood, and continued to be unsuccessful, taking a full second day to gather the blood needed to send out for the Osteogenesis Imperfecta (OI) test and a few other tests regarding bone health. He was still on no medication until they decided to put an IV in his head where they used morphine. They took an abdominal CT because my son had high liver enzymes, but his CT came back perfectly normal. He was put into a Pavlik harness to help heal his femur fracture. 

The State Intervenes

A Child Protective Services (CPS) worker, a detective, and a police captain interviewed me, my wife, and my wife's parents. They agreed that everything we have said had been consistent. There hasn't been any trauma, and certainly no outward signs abuse. The police never filed criminal charges.

We had to appear in court for an emergency hearing as requested by CPS. I had already obtained a lawyer but my wife hadn't had time yet. During the hearing the judge seemed to want to give us both of our children back. But CPS boldly lied and said there was liver damage and stated that all fractures were fact, rather than possibilities. The judge reluctantly had our son put into a "Medical" foster home, while allowing us to keep our daughter (As long as we were in sight and sound of Linda's parents with our daughter).

At 3 Months

CPS continued to hold our son, and was attacking our parenting skills and the well being of both of our children. We had 3 1-hour visits a week with our son, and during that last month we discovered that our son now had an umbilical hernia (which may have been developing while he was still with us). We asked CPS to take our son to see a doctor, but they informed us they had another appointment set up for his two month check and will have it looked at than. 

We have since discovered that our son does have low calcium, low vitamin D, high alkaline phosphatase. We have looked into many different possibilities, including OI, Rickets, Temporary Brittle Bone Disease (TBBD), and other diseases that could have caused this. The OI test came back negative, but there are other options, but at this time it was very difficult to have our son tested. 

Back in the Womb

My wife had a rough pregnancy because of his size. We discovered that she has a retroverted uterus. This made our son's birth even tougher. He was born at 41 5/7 weeks by induction with pitocin. My son had severe shoulder dystocia during birth, and had an initial APGAR score of 3, taking a full minute to even breath. During the later stages of pregnancy my son was unable to move much, but certainly was noticeable due to his large size. My son only moved at night when my wife was able to lay flat, especially during the third trimester. His birth weight was 9lbs 7oz and 21 1/2 inches. 

The Judicial Hearing

We started the Judicial Hearing Process on January 5th, 2011. The hearings were held on the 5th, 6th, 9th, 10th, 11th, and 18th. One of the worst problems with this process is that it is held in the Juvenile Courts, and rather than using "Beyond a reasonable doubt" they use "Preponderance of Evidence" which refers to balancing the evidence (50/50), and whichever side is over the 50% mark wins the case. 

We clearly should have had more than enough evidence to prove that we had not abused our son. Firstly, it was made clear that the hospital had lost blood tests, including a very important vitamin D, phosphorus, ionized calcium, and the PTH tests, all vital for diagnosing Rickets. They also noted elevated liver enzymes related to bone breaks which were elevated even higher after our son was in foster care, after declining to a normal level at the hospital. 

The Expert and the Villain

We had hired Dr. David Ayoub to testify about what he saw from the x-ray and CT images. He testified that he could see from the radiological evidence that our son had neonatal rickets. Dr. Ayoub even had images taken directly from My son's X-rays and CT scans to show these signs. 

The state provided numerous medical witnesses, and each of these witnesses, except Dr. Villain (A Child abuse Expert who has been certified by American Board of Pediatrics, Child Abuse Pediatrics since 2009), had admitted that if our son had a medical condition of bone fragility that it could explain his fractures. It was also noted that our son had no bleeding on the brain, no subdural bleeding, no retinal hemorrhaging, no bruising, no swelling, no internal organ damage, no brain damage, no cuts or lesions, and no tissue damage. The only thing noted were the unexplained bone fractures without local tissue trauma. 

It was even noted in court that there was very likely a new rib fracture after our son was placed in foster care. There was even a physician's assistant who noted that if our son did have bone fragility he himself could have accidentally broken our son's ribs during a routine well baby check. 

The ER doctor who saw our son when we brought him to the hospital still can't give a clear answer about whether or not he broke our son's femur, and when asked on the stand said "I don't believe I did." rather than a simple yes or no. The pediatrician who is currently seeing our son was even confused why they were calling this abuse when there clearly were other things that needed to be looked at first, and recommended that our son see and endocrinologist and geneticist. 

There were two doctors who testified that the obvious fact that all of the normal signs of abuse were missing meant it was unlikely to be abuse when evaluating the differential diagnosis. 

The State recalled two of their medical witnesses to discredit Dr. Ayoub's work simply because his current study hadn't been published in a peer reviewed journal yet. Dr. Villain (who had never actually seen our son, nor viewed his full medical history) claimed that he didn't care if our son had a medical condition. He (in a very belligerent attitude)believed that this was abuse anyways, and would not be convinced otherwise.

The Judge's Ruling

So the Judge erred on the side of caution and adjudicated my wife and I of abusing our son. We we able to keep our daughter home with us, because she was in perfect health. He even stated that we should bring new medical evidence to him should we have any.

We tried to have CPS take our son to specialist to evaluate him, and the judge even order them to do it. This never happened. We fought for our innocence, and after 17 month we got our son back. The verdict hadn't changed, but the judge had decided that we were trustworthy enough to have our son back.

The new evidence

In 2013 we finally had the opportunity to have our son evaluated by a endocrinologist at the very same children's hospital. They thought the situation was very odd. While they found no endocrine problems, they suggest that our son be evaluated for Ehlers-Danlos with a geneticist.

We finally were able to see the very busy geneticist in 2014, and they said that our son clearly has Ehlers-Danlos type-III (Hypermobility). We were told that his was very likely the reason our son was injured without a traumatic accident. We thought that it was great to finally know what we as a family were dealing with. The syndrome isn't life threatening for our son, but it isn't a simple disorder either. He deals with fatigue and soreness frequently.

We haven't been able to return to court, because it is very difficult to find an attorney who wants to reopen finished cases.

We didn't abuse our son, and they shouldn't be able to take our son like this without reasonable cause. 

Our story has been passed on, and we hope people continue to share it. So please repost and spread the word about this huge injustice to all your friends and family. This isn't about just our family anymore. This scenario is happening over and over again all across the country and internationally. So please share this story, it may help a family be saved.

Dr. Ayoub talks about Infantile Rickets and the families hurt by the misdiagnosis of abuse

Epidemic of Infantile Rickets May have Put Thousands of Innocent Parents in Jail for Child Abuse

A Critical Review of the Classic Metaphyseal Lesion: Traumatic or Metabolic?

http://www.ajronline.org/doi/abs/10.2214/AJR.13.10540

David M. Ayoub, Charles Hyman, Marta Cohen and Marvin Miller

ABSTRACT :

OBJECTIVE. The purpose of this study was to review the hypothesis that classic metaphyseal lesions represent traumatic changes in abused infants and compare these lesions with healing rickets.

MATERIALS AND METHODS. Using a PubMed search, a multidisciplinary team reviewed studies that reported the histopathologic correlation of classic metaphyseal lesions. Selective studies of growth plate injury and rickets were cross-referenced.

RESULTS. Nine identified classic metaphyseal lesion studies were performed by the same principal investigator. Control subjects were inadequate. Details of abuse determination and metabolic bone disease exclusion were lacking. The presence of only a single radiology reviewer prevented establishment of interobserver variability. Microscopy was performed by two researchers who were not pathologists. Classic metaphyseal lesions have not been experimentally reproduced and are unrecognized in the accidental trauma literature. The proposed primary spongiosa location is inconsistent with the variable radiographic appearances. Classic metaphyseal lesions were not differentiated from tissue processing artifacts. Bleeding and callus were uncommon in spite of the vascular nature of the metaphysis. The conclusion that excessive hypertrophic chondrocytes secondary to vascular disruption were indicative of fracture healing contradicts the paucity of bleeding, callus, and periosteal reaction. Several similarities exist between classic metaphyseal lesions and healing rickets, including excessive hypertrophic chondrocytes. “Bucket-handle” and “corner fracture” classic metaphyseal lesions resemble healing rickets within the growth plate and the perichondrial ring, respectively. The age of presentation was more typical of bone fragility disorders, including rickets, than reported in prior child abuse series.

CONCLUSION. The hypothesis that classic metaphyseal lesions are secondary to child abuse is poorly supported. Their histologic and radiographic features are similar to healing infantile rickets. Until classic metaphyseal lesions are experimentally replicated and independently validated, their traumatic origin remains unsubstantiated.

http://www.ajronline.org/doi/abs/10.2214/AJR.13.10540

The Differential Diagnosis of Child Abuse

Michael Segal MD PhD

http://www.simulconsult.com/resources/abuse.html

"Bones breaking, bending or joints dislocating

Many diseases result in bones being susceptible to breaking, leading to allegations of child abuse.  One should check whether superficial indications of trauma are commensurate with the fractures.  Serial measurement of serum alkaline phosphatase activity is also helpful.  Other bone disease result in bones being undermineralized and likely to bow or bend, leading to accusations of neglect.  Examples particularly likely to lead to errors are:

• Alagille syndrome
• Osteogenesis imperfecta
• X-linked hypophosphatemia:  Joan Reed, President of the XLH Network, relates that the undermineralization and bowing of bones in children with XLH often leads to suspicion of nutritional neglect and delays in diagnosis.  Even after diagnosis of some related disorders such as Autosomal Dominant Hypophosphatemic Rickets, the use of the word rickets causes many non-medical people to assume the problem is nutritional.
• Bone disease of prematurity
• Ehlers-Danlos syndrome and other connective tissue disorders
• Rickets due to vitamin D deficiency
• Scurvy (vitamin C deficiency):  particularly suspicious because bruising is also frequent
• Copper deficiency and Menkes disease: particularly suspicious because of frequent subdural hematomas in Menkes disease and seizures.
• Inherited systemic hyalinosis: Shieh et al. relate that "Periosteal reaction or fractures on skeletal radiographs in systemic hyalinosis have been mistaken for nonaccidental trauma. The hyperpigmented skin lesions may mistakenly be considered post-traumatic".

Some medications can make bones more fragile, most commonly steroids. 

Cedars Sinai Hospital has taken a particular interest in such orthopedic cases. "

The breastfeeding mother: Breast milk as a biomarker?

Posted on June 25, 2012 by John Cannell, MD

It just never made sense to me, 40 years ago, when my professors at UNC School of Medicine casually announced human breast milk contained no vitamin D.
“How can that be? How can that possibly be? That makes no sense,” I thought. “Was primitive man supposed to give their infants vitamin D pills that didn’t even exist?”
I have written before about biomarkers, such as:

• How high does your vitamin D level have to be to maximally suppress parathyroid hormone?
• How high does your vitamin D level have to be to maximally improve calcium absorption?
•  How high does your vitamin D level have to be to prevent abnormal bones?

The answer to these questions varies from 20 ng/ml to 40 ng/ml, depending on what study you decide to quote. But what about breast milk as a biomarker? Infants need vitamin D for strong bones and general development. Without vitamin D, the infant can develop rickets. In the 21^st century, this is treatable in a clinic. In the wild, the tribe may have left a screaming baby with soft bones at the wayside.

How high does the breastfeeding mom’s vitamin D level need to be for her infant to get natural vitamin D levels? This level is a biomarker because it gives us insight on how high vitamin D levels were for species survival. If the breastfeeding mom couldn’t supply vitamin D to the infant, our species may not have survived. Whatever vitamin D level that might be, that would be the level humans evolved to have.
Professors Wagner and Hollis and colleagues did an elegant randomized controlled trial 6 years ago that we have covered before, but it should be covered often. They simply gave two different doses of vitamin D to nursing mothers and measured the vitamin D levels of their infants and mothers. They used a small sample of breast feeding women, giving half the women a prenatal vitamin (containing 400 IU) and the other half a prenatal vitamin plus an extra 6,000 IU/day of vitamin D.
The suckling infants of the mothers given only the prenatal were also given 300 IU of vitamin D directly (it would have been unethical to deprive any of the infants of vitamin D). They noted no side effects with any dose, but the 6,000 IU/day arm of the study answered my 40-year-old question.
Wagner CL, Hulsey TC, Fanning D, Ebeling M, Hollis BW. High-dose vitamin D3 supplementation in a cohort of breastfeeding mothers and their infants: a 6-month follow-up pilot study. Breastfeed Med. 2006 Summer;1(2):59-70.
The 6,000 IU/day dose of vitamin D did three things.

1. It gave the mothers natural vitamin D levels (50 ng/ml or close to).
2. It transformed breast milk into a rich source of vitamin D.
3. It gave suckling infants natural blood levels of vitamin D (45 ng/ml).

Given this, if you are now breast-feeding and not taking vitamin D, then I hope you are giving your infant at least 400 IU of vitamin D per day as the American Academy of Pediatrics (AAP) recommends. If you want your infant to start getting their vitamin D from your breast milk, I recommend the following steps:

1. Take a loading dose of 10,000 IU/day for a month.
2. After one month on 10,000 IU/day, stop supplementing your infant with vitamin D as your breast milk should now be filled with vitamin D.
3. Take 6,000 IU/day maintenance dose thereafter, except on days you get full body sun exposure.

However — and this is important — when the breastfeeding stops, you need to start supplementing your child again, as the AAP recommends, unless the child is in the sun enough to have adequate levels, and very few are.
I’d like to reiterate, can you think of a better biomarker for how much vitamin D humans need?

• “How much vitamin D do human breast–feeding mothers have to take to transform their breast milk into an adequate source of vitamin D for their infants?”

This is a great biomarker question, one essential to the survival of our species. The answer is 50 ng/ml, which can be achieved by 6,000 IU/day for breastfeeding mothers.
Further reading:

• Taylor SN, Wagner CL, Hollis BW. Vitamin D supplementation during lactation to support infant and mother. J Am Coll Nutr. 2008 Dec;27(6):690-701. Review.

About John Cannell, MD

Dr. John Cannell is founder of the Vitamin D Council. He has written many peer-reviewed papers on vitamin D and speaks frequently across the United States on the subject. Dr. Cannell holds an M.D. and has served the medical field as a general practitioner, itinerant emergency physician, and psychiatrist.

View all posts by John Cannell, MD →

 

http://blog.vitamindcouncil.org/2012/06/25/the-breastfeeding-mother-breast-milk-as-a-biomarker/ 

Doctors Say Rickets Is Back

By Melissa Schorr
B O S T O N, Aug. 10

An exclusive diet of breast milk could be putting some babies at risk for vitamin D deficiency and thus at risk for rickets, a bone-weakening disorder that has been virtually nonexistent in the United States for decades.

Doctors nationwide are reporting a small spike in the number of breast-fed babies developing nutritional rickets, Rickets is caused by a lack of vitamin D, which is crucial for strong bone development. It can result in stunted growth, broken bones and bow legs in children.

Breast milk, though an excellent source of nutrition overall, provides little vitamin D. Babies can get the vitamin instead from a splash of sunlight or from a daily supplement.

But rickets may be on the rise, researchers believe, because of the renewed popularity of breast-feeding, along with doctors’ failure to properly prescribe vitamin D supplements to breast-feeding moms.

Dark Skin, High Risk At special risk are dark-skinned babies, whose pigmentation prevents them from using sunlight to produce the necessary vitamin D.

But babies of any race who aren’t getting enough vitamin D from their diet and aren’t getting a daily dose of sunlight are potentially at risk of developing rickets, researchers say.

Doctors at two medical centers in North Carolina report in this month’s issue of the Journal of Pediatrics that they saw 30 cases of rickets in breast-fed black infants from 1990 though 1999, with more than half of the cases occurring in the last 18 months alone.

This June, researchers at the University of Texas Southwestern Medical Center in Dallas published a report in the journal Texas Medicine about a recent outbreak of rickets among dark-skinned infants who were breast fed, despite the presence of abundant sunlight in the state.

Statewide Surge Cases of rickets have been popping up around the country, from New York to Florida, notes Dr. Robert P. Schwartz, an endocrinologist at Wake Forest University School of Medicine in Winston-Salem, N.C., lead author of the study.

Schwartz decided to study the issue along with his colleagues, Dr. Shelley Kreiter, a pediatrician at Wake Forest, and Dr. Henry Kirkman of the University of North Carolina School of Medicine in Chapel Hill.

Because of growing concerns, the Centers for Disease Control will be putting out a bulletin on rickets this fall, a spokesman says.

“This is a disease that was here 100 years ago,” Schwartz says. “It’s back.”

History of Rickets

As late as the 1940s, rickets was a common childhood ailment, killing thousands of children annually until doctors learned that that vitamin D in milk and sunlight could largely prevent it.

Today, fortified milk and prepared baby formula both contain vitamin D, largely eliminating the problem.

But because breast milk contains much lower levels of vitamin D, babies exclusively fed on it may be at risk, especially if they have darker skin that blocks out sunlight; live in northern climates and receive less light or have moms with vitamin D deficiencies themselves.

The number of African-American women who are breast-feeding has been on the rise in the past decade, from about 5 to 22 percent, the Pediatrics study reports.

“We’re glad to see that more minority women are breast-feeding, and we don’t want them scared away because they hear their breast milk is not sufficient,” says Carol Huotari, manager for the Center for Breastfeeding Information at La Leche League International, a Schaumburg, Ill.-based group that promotes breast-feeding. “It’s a simple thing to provide vitamin D supplements.”

“We don’t want to come across as against breast-feeding,” Schwartz concurs. “But we think all infants should be supplemented with vitamins.”

Since January, Schwartz’ group has provided supplements to more than 700 women in North Carolina who are exclusively breast-feeding. The supplements are paid for by the federal Health Resources and Services Administration’s Maternal and Child Health Block Grant program.

“Proving supplements to every baby seems like overkill,” says Huotari, “when it’s just a selected group of babies that would benefit.”

But Schwartz says many infants are potentially at risk and the cost has been minimal so far: about $1.50 per infant per month — far less than hospitalizing infants for fractures and broken bones.

Doctors Fail to Warn Besides the increase in breast-feeding contributing to this rise in rickets, pediatricians also may not be telling mothers to supplement the breast milk with vitamin D.

The Journal of Pediatrics study surveyed 400 North Carolina pediatricians and found that 16 percent weren’t prescribing vitamin supplements at all. Younger doctors, who may have never seen a case of rickets, were less likely to prescribe vitamin D than older ones.

“Doctors have not been led to believe it is essential,” Schwartz explains.

Schwartz says the American Academy of Pediatricians hasn’t established clear enough guidelines on supplementation.

In 1998, the academy recommended vitamin D supplements be used for breast-fed infants with dark skin or inadequate exposure to sunlight, but other earlier policy statements still in effect haven’t provided a clear mandate for vitamin use.

“The nice thing is, this disease doesn’t have to occur at all,” Schwartz says. “This is 100 percent preventable.”

http://abcnews.go.com/Health/story?id=118054&page=1#.T36eC6tSSj_

What is Hypophosphatasia (HPP)?

Hypophosphatasia is an inherited metabolic (chemical) bone disease that results from low levels of an enzyme called alkaline phosphatase (ALP). Enzymes are proteins that act in the body's chemical reactions by breaking down other chemicals. ALP is normally present in large amounts in bone and liver. In hypophosphatasia, abnormalities in the gene that makes ALP lead to production of inactive ALP. Subsequently, several chemicals - including phosphoethanolamine, pyridoxal 5'-phosphate (a form of vitamin B6) and inorganic pyrophosphate - accumulate in the body and are found in large amounts in the blood and urine of people with Hypophosphatasia. It appears that the accumulation of inorganic pyrophosphate is the cause of the characteristic defective calcification of bones in infants and children (rickets) and in adults (osteomalacia).

Nevertheless, the severity of hypophosphatasia is remarkably variable from patient-to-patient. The most severely affected fail to form a skeleton in the womb and are stillborn. The most mildly affected patients may show only low levels of ALP in the blood, yet never suffer bony problems.

In general, patients are categorized as having "perinatal", "childhood" or "adult" hypophosphatasia depending on the severity of the disease, which in turn is reflected by the age at which bony manifestations are first detected. Odontohypophosphatasia refers to children and adults who have only dental, but not skeletal, problems (premature loss of teeth).

The x-ray changes are quite distinct to the trained eye. Similarly, the diagnosis of hypophosphatasia is largely substantiated by measuring ALP in the blood (a routine test) that is low in hypophosphatasia. However, it is important that the doctors use appropriate age ranges for normals when interpreting an ALP level.

Prevalence

It has been estimated that severe forms of hypophosphatasia occur in approximately one per 100,000 live births. The more mild childhood and adult forms are probably somewhat more common. About one out of every 200 individuals in the United States may be a carrier for hypophosphatasia

Prognosis

The outcome following a diagnosis of hypophosphatasia is very variable. In general, the earlier the diagnosis is made the more severe the skeletal manifestations. Cases with severe, not mild, deformity at birth almost always have a lethal outcome within days or weeks. When the diagnosis is made before six months of age, some infants have a downhill and fatal course, others survive and may even do well. When diagnosed during childhood, there can by presence or absence of skeletal deformity from underlying rickets, but premature loss of teeth (less than five years of age) is the most common manifestation. Adults may be troubled by recurrent fractures in their feet and painful, partial fractures in their thigh bones.

Symptoms

Depending on the severity of the skeletal disease, there may be deformity of the limbs and chest. Pneumonia can result if chest distortion is severe. Recurrent fractures can occur. Teeth may be lost prematurely, have wide pulp (inside) chambers, and thereby be predisposed to cavities.

Inheritance Factors

The severe perinatal and infantile forms of hypophosphatasia are inherited as autosomal recessive conditions. The patient receives one defective gene from each parent. Some more mild (childhood or adult) hypophosphatasia cases are also inherited this way. Other mild adult and odonto hypophosphatasia cases seem to be inherited in an autosomal dominant pattern (the patient gets just one defective gene, not two, transmitted from one of his/her parents). In this form, mild hypophosphatasia can occur from generation-to-generation. The perinatal form of hypophosphatasia can often be detected during pregnancy by ultrasound and by measuring ALP activity in chorionic villus samples from amniocentesis.

Individuals with hypophosphatasia and parents of children with hypophosphatasia are encouraged to seek genetic counseling to explain the likelihood and severity of hypophosphatasia recurring in their families.

Treatments

As yet, there is no cure for hypophosphatasia and no proven medical therapy. Some medications are being evaluated. Treatment is generally directed towards preventing or correcting the symptoms or complications.

Expert dental care and physical therapy are recommended. An orthopaedic procedure called "rodding" may be especially helpful for adults with painful partial fractures in their thigh bones. Severely affected infants may manifest increased levels of calcium in their blood that may be treated with calcitonin and certain diuretics. Doctors should avoid the temptation to give calcium supplements or vitamin D unless there is clear-cut deficiency.

Contributing Medical Specialist
Michael P. Whyte. M.D.
Medical Director
Center for Metabolic Bone Disease and Molecular Research
Shriners Hospital
St. Louis, Missouri

By CARRIE GANN (@carrie_gann) , ABC News Medical Unit

Feb. 8, 2012

Vitamin D is the key to having healthy bones, yet many Americans don't get as much as they need.

The consequence? Broken bones, even among the young and healthy, according to two new studies presented yesterday at a meeting of the American Academy of Orthopaedic Surgeons.

In one study, researchers from South Korea studied 104 postmenopausal women with wrist fractures and found that 44 percent of the women had insufficient or deficient vitamin D levels. Only 13 percent of 107 women soft tissue injuries were found to have low vitamin D levels.

Vitamin D deficiency can be devastating among younger women and men also, according to another study presented at the AAOS meeting.

Researchers at the University of Missouri studied the medical records of nearly 900 adults, some as young as 18 years old, who were admitted to a trauma center for orthopedic injuries. Researchers found that 77 percent of them had insufficient or deficient levels of vitamin D. Nearly 40 percent were vitamin D deficient.

"We are dealing with a significant problem in our population, especially related to those individuals that sustain fractures," said Dr. Joseph Lane, chief of metabolic bone disease service at the Hospital for Special Surgery in New York City.

Vitamin D helps the body absorb calcium from food, strengthening the bones. The nutrient is found naturally in fatty fish like salmon and tuna, and in small amounts in mushrooms, cheese and egg yolks.The other natural source for vitamin D is sunshine, which causes the body to make vitamin D.

Vitamin D is also added to nearly all milk sold in the U.S.

In 2010, the Institute of Medicine recommended that children and adults up to age 70 get 600 IU of vitamin D each day, and that adults over 70 should get 800 IU per day.

Getting enough of the nutrient naturally is next to impossible, according to some experts. A cup of milk only has 100 IU of vitamin D. Drink 4 a day and you still won't meet the IOMs daily requirements.

Sunlight is also insufficient for most, said Dr. Loren Wissner Green, an associate professor at New York University School of Medicine.

"Light-skinned people generally use sunscreens that prevent the skin from manufacturing vitamin D and darker skinned people have natural melanin barriers to UV rays that allow the skin to manufacture vitamin D," Green said.

Experts say taking a vitamin D supplement is a good idea, especially for older women who are at greater risk for bone fractures.

"All postmenopausal women should be taking calcium and a multivitamin containing vitamin D," said Dr. Scott Boden, director of the Emory University Orthopaedic and Spine Center in Atlanta, Ga.

Additionally, older people, those with previous bone fractures, and others who are at an increased risk of fractures, may want to consider having a doctor check their vitamin D levels.

COMMON PEDIATRIC BONE DISEASES-APPROACH TO PATHOLOGICAL FRACTURES

COMMON PEDIATRIC BONE DISEASES-APPROACH TO PATHOLOGICAL FRACTURES

Click for pdf:  Common pediatric bone diseases

General Presentation

Background: It is not uncommon for children to present with fractures after experiencing trauma. However, children may also present with pathological fractures, which are fractures that occur in abnormal bones and typically occur during routine activity or after minor trauma. It is important to be able to distinguish between traumatic fractures and pathological fractures as the prognosis and treatment can vary quite considerably. One also MUST consider non-accidental injury in the child that presents with multiple unexplained fractures. Non-accidental injuries are discussed in a separate article on this site.

These fractures will generally present as localized pain and tenderness over the involved bone. Refusal to weight bear in the younger, non-verbal child is also very common.

Pathophysiology: Although there are many potential etiologies for weakened bone manifesting as pathological fractures, it is simple to divide it into three categories with common etiologies:

1)    Metabolic bone disease- eg. Rickets

2)    Bone tumours – eg. Benign tumours (non-ossifying fibroma and osteochondroma) and malignant tumours (osteosarcoma and Ewing’s sarcoma)

3)    Connective tissue bone disease- eg. Osteogenesis imperfecta

Metabolic Bone Disease: Normal bone growth and mineralization requires adequate calcium and phosphate. There are numerous etiologies of rickets, including nutritional deficiencies (calcium, phosphate and vitamin D), drug induced, renal pathology, and tumours. The end result and clinical manifestations of rickets are secondary to the failure of calcification of the growth plate cartilage because of a deficiency of either calcium or phosphate. Rickets is defined as deficient mineralization at the bone’s growth plate whereas osteomalacia refers to impaired mineralization of the bone matrix. Rickets is relatively common in children, especially those who have poor dietary intake, poor absorption, increased excretion of calcium, phosphate, or vitamin D, premature infants or breast-fed infants who are not supplemented with vitamin D. Regardless of whether it is calcium or phosphate deficient rickets, the typical clinical findings associated with Rickets include:

• Skeletal Findings(see Figure 1):
  • Delayed closure of the fontanelle
  • Parietal and frontal bossing
  • Craniotabes (soft skull bones)
  • Rachitic rosary (enlargement of the costochondral junction such that there is beading across the anterolateral aspects of the chest)
  • Widening of the wrists; bowing the distal radius and ulna
  • Progressive bowing of the femur and tibia
• Extraskeletal Findings(vary depending on the primary mineral deficiency):
  • Calcipenic rickets – hypoplasia of dental enamel, decreased muscle tone, delayed achievement of motor milestones, hypocalcemic seizures, increased sweating
  • Phosphopenic rickets – dental abscesses

Bone Tumors: Tumours, regardless of whether they are benign or malignant, can cause pathological fractures by growing and replacing the normal tissue of bone. This results in an abnormal, weakened bone more prone to fractures. In children, benign bone tumours are fairly common, but are often asymptomatic and discovered incidentally during evaluation for trauma or another condition, and thus, the true incidence is unknown. If they are symptomatic, they may present with localized pain, swelling, deformity or a pathological fracture. Most benign tumours generally present during the second decade. Two examples of common benign tumours which can present as pathological fractures include non-ossifying fibroma, and osteoid osteomas.

Malignant bone tumours account for 5% of all pediatric malignancies, with the peak occurrence between the ages of 10-24. The two most common malignant bone tumours in children are Ewing’s sarcoma and osteosarcoma which collectively make up 90% of the pediatric bone tumours. Ewing’s sarcoma is more common within the first 10 years, and then osteosarcoma becomes more common. The cancers often arise in the pelvis, femur, tibia and humerus. These can commonly present with symptoms of pain and swelling, which may be worse with exercise or at night, and sometimes the first signs may be due to a pathological fracture.

Connective Tissue Disease: Osteogenesis imperfecta (OI) is an inherited connective tissue disorder commonly known as “brittle bone disease” which can manifest in a wide spectrum, from mild to lethal forms. It is usually due to a deficiency of normal Type I collagen, which is an organic component necessary for proper bone formation.  Although its incidence is estimated to approximately 0.005%, it is important to include this disease in the differential diagnosis because it can present early in children as numerous and recurrent pathological fractures. The common clinical manifestations of OI include:

• Multiple and/or atypical fractures
• Short stature
• Scoliosis
• Basilar skull deformities
• Wormian bones (irregular, small bones along the cranial sutures)
• Blue sclera
• Hearing loss
• Opalescent teeth that wear quickly
• Increased laxity of ligaments and skin
• Easy bruising
• Accelerated osteoporosis

Questions to Ask

• How did the fracture occur – How, when, where? – to determine if it was pathological or traumatic fracture
• Has the child had any previous fractures or any other concurrent fractures? If so, can you describe them? – to help determine pathological versus traumatic fracture
• What is the child’s diet like? To determine if nutritional deficiency Rickets may be the cause
• Did the child have any previous bone pain?  If so, can you describe what makes it better or worse? Also, does it get worse at night? To check for potential bone tumors
• Does the child have a fever? To rule out any potential infectious causes or malignancies (constitutional symptoms – fevers, weight loss, drenching night sweats)
• Does the child have any other medical history? To rule out a secondary cause of the bone disease
• Do you suspect that the child may have been abused? Who is the primary caretaker of the child?
• Is the child taking any other medications?

Differential Diagnosis for Pathological Fracture

• Rickets from Vitamin D deficiency
• Osteogenesis Imperfecta
• Renal Osteodystrophy
• Osteomyelitis
• Child abuse
• Preterm birth resulting in osteopenia – neonates
• Fibrous dysplasia
• Osteomalacia
• Copper deficiency – infants: first 6 months
• Bone tumours and cancers
• Chronic Vitamin A toxicity
• Metabolic diseases – leading to calcium wasting and demineralization
• Prolonged administration of prostaglandins, glucocorticoids, or methotrexate
• Congenital syphilitic periostitis
• Hypophospatasia
• Juvenile Osteoporosis

Investigations and Management

1)    Rickets:

Laboratory findings:

1. Elevated alkaline phosphatase – indication of impaired bone mineralizeation
2. Serum phosphorous concentrations – usually low in hypocalcemic and hypophosphatemic rickets
3. Serum calcium concentration – decreased only in hypocalcemic rickets
4. Parathyroid hormone – usually elevated in hypocalcemic rickets, but usually normal in hypophosphatemic rickets
5. 25-OH Vitamin D – low in vitamin D deficiency
6. GFR and Creatinine – to determine kidney function

Radiographic Findings:

1. Osteopenia
2. Metaphyseal cupping  and fraying (See Figure 2)
3. Physeal widening
4. Enlargement of costochondral junction
5. Bowing of long bones (See Figure 3)

Management:

1. Oral doses of 5,000-15,000 IU/day of Vitamin for 4 weeks for Vitamin deficient Rickets
2. Optimize calcium intake for hypocalcemic rickets
3. Treat underlying primary cause of Rickets

2)    Bone Tumors (benign and malignant)

Laboratory Findings:

1. If suspect malignancy: blood work including liver enzymes, CT chest, bone scan, bone biopsy, MRI of affected bone

Radiographic Findings:

1. Benign: single lesion generally, sharp area of delineation, overlying cortex intact, sclerotic margins, no or simple periosteal reaction (See Figure 4)
2. Malignant: multiple lesions often, poor delineation of lesion, loss of overlying cortex, extensive periosteal reaction, potential soft tissue involvement (See Figure 5)

Management:

1. Benign: follow up with radiographs 4-6 months later
2. Malignant: complete resection, chemotherapy, radiation

3)    Osteogenesis Imperfecta

Laboratory Findings:

1. Elevated levels of serum alkaline phosphatase
2. Hypercalciuria – magnitude reflects severity of disease
3. C-terminal peptide (marker of bone formation) and C-telopeptide (marker of bone resorption) –can be higher

Radiographic Findings:

1. Mild OI: Thin cortex and relatively few fractures with normal skull development
2. More severe OI: hyperplastic callus formation (from thickened periosteum), shortened long bones with multiple fractures (See see Figure 6)

Management:

1. Bisphosphonates

Conclusion

Children who present with pathological fractures always require a thorough evaluation. It is important to keep an open mind as to the various causes of pathologic fractures and to always rule out non-accidental injury.

References

1)        Beary J, Chines A. Clinical features and diagnosis of osteogenesis imperfecta. (Last Updated June 15, 2010) In: UpToDate, Tepas E (Ed), UpToDate, Wellesley, MA, 2010.

2)        Scheri S. Differential diagnosis of the orthopedic manifestations of child abuse. (Last Updated Dec. 3, 2008) In: UpToDate, Wiley E (Ed), UpToDate, Wellesley, MA, 2010.

3)        Rauch F. Overview of Rickets in Children. (Last Updated August 11, 2010). In: UpToDate, Hoppin A (Ed), UpToDate, Wellesley, MA, 2010.

4)        Tis J. Overview of benign bone tumors in children and adolescents. (Last Updated September 28, 2010) In: UpToDate, Torchia, M (Ed), UpToDate, Wellesley, MA, 2010.

5)        Kliegman R, Behrman, Jenson H, Stanton B. Nelson Textbook of Pediatrics, 18^th ed. Philadelphia: Saunders, 2007.

6)        Benson M, Fixsen J, Macnicol M. Children’s Orthopaedics and Fractures, 3^rd ed. New York: Springer, 2010.

7)        Kirpalani A, Babyn P. Imaging in Osteogenesis Imperfecta. eMedicine (Last Updated August 5, 2008). Available from http://emedicine.medscape.com/article/411919-print [Accessed on March 5, 2011]

8)        Rijn R, McHugh K. Rickets Imaging. eMedicine (Last Updated March 18, 2009). Available fromhttp://emedicine.medscape.com/article/412862-print [Accessed on March 5, 2011]

9)        Dugani S, and Lam D. Toronto Notes. Toronto Notes Medical Publishing Inc. 2009

10)     Jenny C. Evaluating Infants and Young Children with Multiple Fractures. Pediatrics. 2006; 118(3):1299-303.

11)      Adam A, Dixon A. Adam: Grainger & Allison’s Diagnostic Radiology, 5^th ed. Philadelphia: Churchill Livingstone, An Imprint of Elsevier, 2008.

Acknowledgements

Written by: Teresa Liang

Edited by: Anne Marie Jekyll, MD (Pediatric Resident)

Images

(Image from Rijn R, McHugh K. Rickets Imaging. eMedicine (Last Updated March 18, 2009). Available fromhttp://emedicine.medscape.com/article/412862-print [Accessed on March 5, 2011])

(Image from Rijn R, McHugh K. Rickets Imaging. eMedicine (Last Updated March 18, 2009). Available fromhttp://emedicine.medscape.com/article/412862-print [Accessed on March 5, 2011])

(Image from Rijn R, McHugh K. Rickets Imaging. eMedicine (Last Updated March 18, 2009). Available fromhttp://emedicine.medscape.com/article/412862-print [Accessed on March 5, 2011])

(Adapted from Adam A, Dixon A. Adam: Grainger & Allison’s Diagnostic Radiology, 5th ed. Philadelphia: Churchill Livingstone, An Imprint of Elsevier, 2008)

(Adapted from Adam A, Dixon A. Adam: Grainger & Allison’s Diagnostic Radiology, 5^th ed. Philadelphia: Churchill Livingstone, An Imprint of Elsevier, 2008)

(Image from Kirpalani A, Babyn P. Imaging in Osteogenesis Imperfecta. eMedicine (Last Updated August 5,2009). Available from http://emedicine.medscape.com/article/411919-print [Accessed on March 5, 2011])