medical   Medical Information - Bone Disorders
 
The following pediatric medical conditions and bone disorders have symptoms which may be misinterpreted as child abuse. We have listed additional information for some of these conditions.

It is our goal to include additional research regarding many other medical conditions that can be confused with child abuse. At this time, however, we have concentrated our medical research on conditions that can predispose a child to fractures. If you have additional information about these or other ailments confused with child abuse, please contact us.

DISCLAIMER: Please note that Protect Our Families.com is not licensed to give medical advice. The following information is research gathered that you may wish to share with your doctor.


              Conditions that can cause bone fractures
  • Osteogenesis Imperfecta (OI) - Brittle bone disease due to a genetic collagen disorder where newborn babies and children are susceptible to fractures. This permanent condition is based on a faulty type or lack of collagen in the bones. Although, it is a permanent condition, fractures usually decrease after hormonal changes in adulthood.

  • Osteopenia of Prematurity, also known as Rickets of Prematurity
    Osteopenia of Prematurity - refers to the hypomineralized skeleton of the premature infant compared with that of the normal fetal skeleton resulting from the in utero accretion of minerals. In growing low birth-weight (LBW) infants (birth weight less than 1500 g and less than 32 weeks gestational age), it occurs almost without exception. This high incidence is not surprising considering that 80% of fetal skeletal mineralization takes place during the last trimester of pregnancy. Thus, one would expect an increasing degree of osteopenia in premature infants with decreasing gestational age.

    Source: "Osteopenia of Prematurity" by Frank R. Greer, Departments of Pediatrics and Nutritional Sciences, University of Wisconsin, Madison, Wisconsin on the web site: http://www.geocities.com/medicos76/osteopeniaprematuridad.html

  • Vitamin D deficiency Rickets in breast-fed full-term Infants
    This article describes the cases of five consecutive infants with symptomatic vitamin D deficiency and their mothers. Four of the infants were light skinned, all had poor sunlight exposure, and all were breast-fed or had diets low in vitamin D. All mothers had vitamin D deficiency. Regardless of race, infants with poor sunlight exposure and diets lacking in vitamin D are at risk for vitamin D deficiency. Mothers of these infants should be evaluated for vitamin D deficiency. Vitamin D supplementation of the breast-feeding mother at risk and her infant is recommended.

    Source: Vitamin D deficiency in pregnant and breast-feeding women and their infants, Daaboul J, Sanderson S, Kristensen K, Kitson H, Northwestern University Medical School, Division of Endocrinology, Children's Memorial Hospital, Chicago, IL, J Perinatol. 1997 Jan-Feb;17(1):10-4.

  • Temporary Brittle Bone Disease (TBBD) - Disease where newborn babies and infants are susceptible to fractures due to a weakened skeletal system due to restricted movement in the womb. Current research has shown that this condition is common with premature babies, twins, or breech babies with reduced fetal movement in the womb. Further research has shown that babies with TBBD often have a short placenta cord which is sometimes measured by hospital staff at birth.

  • Phosphate Deficiency Rickets due to Aluminum-containing Antacids
    Infants were found to have generalized osteomalacia (rickets) due to phosphate depletion from prolonged administration of an aluminum-containing antacid given for the symptoms of colic.

    Source: Rickets secondary to phosphate depletion. A sequela of antacid use in infancy, Clin Pediatr (Phila). 1995 Feb;34(2):73-8. Pivnick EK, Kerr NC, Kaufman RA, Jones DP, Chesney RW.Department of Pediatrics, University of Tennessee, Memphis, TN

    Aluminum toxicity is associated with the development of bone disorders, including fractures, osteopenia, and osteomalacia.
    Source: Sequential serum aluminum and urine aluminum: creatinine ratio and tissue aluminum loading in infants with fractures/rickets, Pediatrics. 1992 May;89(5 Pt 1):877-81. Koo WW, Krug-Wispe SK, Succop P, Bendon R, Kaplan LA.

    Laboratory findings are reduced serum phosphate values and urinary phosphate excretion, which are strongly suggestive for phosphate depletion.
    Source: A new form of Rickets during infancy: phosphate depletion-induced osteopenia due to antacid ingestion, Chesney RW. Le Bonheur Children's Medical Center, University of Tennessee, Memphis, TN, Arch Pediatr Adolesc Med. 1998 Dec;152(12):1168-9.

  • Soy Formula may cause Lower Bone Density in Infants
    This study evaluated the adequacy of a soy protein-based formula versus a cow milk protein-based formula for body growth and skeletal mineralization in the first year of life. Group 1 infants were fed soy protein isolate-based formula (Isomil with Iron); group 2 infants were fed a cow milk protein-based formula (Similac with Iron). Group 1 infants had significantly lower BMC (bone mineral content) at 3, 6, 9, and 12 months of age compared with group 2 infants.

    Source: Bone mineralization and growth in term infants fed soy-based or cow milk-based formula, Steichen JJ, Tsang RC, J Pediatr. 1987 May;110(5):687-92.

    Vitamin D-deficient rickets is uncommon but becoming more prevalent in the pediatric population likely related to increases in breast-feeding. It should be considered in many clinical situations. We present 3 cases of rickets presenting acutely to the emergency department. Their presentations included a fracture concerning for child abuse, tetany, and hypocalcemic seizures. In all cases, laboratory and radiographic evaluations were consistent with the diagnosis of nutritional rickets and their symptoms were related to rickets resolved with appropriate treatment. Although uncommon, vitamin D-deficient rickets should be considered in children with the above presentations.
    Source: Variable presentations of rickets in children in the emergency department, Bloom E, Klein EJ, Shushan D, Feldman KW. Department of Pediatrics, University of Washington and Children's Hospital and Regional Medical Center, Seattle, WA, Pediatr Emerg Care. 2004 Feb;20(2):126-30.

  • Caffey Disease
    Caffey Disease - Age of onset: usually around 9 weeks and rarely after 5 months of age, bones affected: mandible, clavicle, others - ulna, tibia, scapulae, ribs, occasionally - humerus, fibula, femur, more than one bone is usually affected and is not symmetrical, swelling may resolve in one site and arise at another, defects have been noted as early as 24 weeks in utero.  Serum: mildly elevated alkaline phosphatase and ESR +/- anemia, thrombo-cytopenia, and elevated IgA and IgM, Skeletal X-rays: Cortical Hyperostoses subperiosteal new bone formation with progressive cortical thickening and widening of the long and flat bones initially the external surface of the new bone is coarse and the underlying cortex is visible but as the disease progresses, the density of the new bone increases and becomes homogeneous with the underlying cortex soft tissue swelling noted over the affected site affected areas confined to the diaphysis while the metaphysis and epiphysis are spared.

    Source: http://www.icondata.com/health/pedbase/files/CAFFEYDI.HTM

    The acute manifestations are inflammatory in nature, with fever and hot, tender swelling of involved bones (e.g., mandible, ribs). Despite striking radiologic changes in the acute stages, previously affected bones are often completely normal on restudy.
    Source: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?114000


  • Idiopathic Juvenile Osteoporosis (IJO) - X-rays show low bone density or collapsed or misshapen vertebrae. Low bone mass may be determined through DEXA or CAT scans.

  • Copper Deficiency Syndrome - Copper is a metallic element that forms an essential part of several enzymes which promote biochemical reactions in the body. A copper deficiency can affect the body's metabolic processes and result in susceptibility to fractures.

  • Hypophosphatasia - Can be determined by low levels of enzyme, alkaline phosphatase, and high levels of chemicals (phosphoethanolamine, pyriodoxal 5/- phosphate (form of vitamin B), and inorganic pyrophosphate) found in the blood and urine. Resembles OI with gray sclera.

  • Hyperparathyroidism - Overproduction of the parathyroid hormone causes the bones to release too much calcium, weakening the skeleton.

  • Homocystinuria - An enzyme deficiency that produces the amino acid, homocystine, found in the blood and urine. Sometimes results in skeletal deformities.

  • Ehlers-Danlos Syndrome- Collagen connective tissue disorder which results in loose skin, easy bruising, and lax joints that dislocate easily. In rare circumstances it can lead to fractures.

  • Fibrous Dysplasia - Abnormal fibrous tissue growth in the bones. Can affect one bone or several bones.

  • Marfan Syndrome - Connective tissue disorder that affects the skeleton, heart, and eyes.

  • Methotrexate Osteodystrophy - Defect of the bones due to metabolic imbalance from the anti-cancer drug, methotrexate.

  • Neuromuscular Disease - Disorders that affect movement and posture, such as Cerebral Palsy and Muscular Dystrophy (MS), can weaken bones and lead to fractures.

  • Scurvy - Inadequate intake of Vitamin C which affects the body's production of collagen.

  • Gaucher Disease - Low amounts of the enzyme, glucocerebrosidase. Skin biopsy or blood test can help to diagnose as well as x-rays of the spleen or liver.

  • Paget's Disease of Bone - Increased bone turnover is laid down in a disorganized pattern and may be softer and weaker than normal bone.

  • Osteomyelitis - Infection of the bone caused by bacteria that can lead to the destruction of the bone and surrounding tissue.

  • Osteoporosis - Loss of protein matrix tissue from bone, causing it to become brittle and fracture easily. Decreased calcium storage weakens the skeleton, resulting in fractures. For hormonal reasons, the condition is much worse for women as the hormone, estrogen, is needed to maintain bone mass.

  • Osteopetrosis - Bones harden and become dense, disrupting normal bone structure. Severe forms result in susceptibility to fractures, stunted growth, deformity, and anemia.

  • Cushing's Syndrome - Adrenal Gland disorder which weakens the bones causing increased risk of fractures. Can be determined by measuring the hormones in the blood and urine. MRI and CT scan of pituitary adrenal or lungs can help to diagnose. Osteoporosis especially in spinal and pelvic bones. Also results in easy, spontaneous bruising.



References:

1) Cruz BK, Wardinsky TD, Vizcarrondo FE: The Mistaken Diagnosis of Child Abuse: A Three Year USAF Medical Center Analysis and Literature Review. Military Medicine 1995;160,1:015
2) Kocher MS, Shapiro F:Osteogenesis Imperfecta. J of Amer Acad of Orth Surgeons 1998; 6, 4:225-236.
3) Paterson CR, Burns J, McAllion S: Osteogenesis Imperfecta Variant Vs. Child Abuse. Am J Med Gen 1995; 56, 1:117-118
4) Miller M: Decreased Fetal Movement and Temporary Brittle Bone Disease. Cal Tissue Int 1999;64, 2.
5) Mayo Clinic Family Health Disc 2.0, 1995,IVI Publishing Inc. and Mayo Foundation for Medical Education and Research.
6) The American Medical Association Encyclopedia of Medicine, 1989, Random House, New York.


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