Evidence of Metabolic Bone Disease in Young Infants with Multiple Fractures Misdiagnosed as Child Abuse
Bone Acquisition and Pediatric Bone Disease (Clinical)
Disorders of Bone and Mineral Metabolism (Genetic, Basic, and Trans.)
Poster Sessions, Presentation Number: SA0023
Session: Poster Session I and Poster Tours
Saturday, October 16, 2010 11:30 AM - 1:30 PM, Metro Toronto Convention Centre, South Building, South Building: Hall E
Chuck Hyman, Pediatrician, , UNITED STATES, * , UNITED STATES
Purpose: Assess the presence of clinical and evidence of metabolic bone disease in young infants presenting with multiple unexplained fractures (MUFs) undergoing an investigation for child abuse.
Methods: We have evaluated the radiographs and pertinent medical records of 40 infants with MUFs and their mothers for signs and risk factors of impaired bone metabolism.
Results: The average age of presentation was 12.6 ± 9.0 weeks (range 2-52). Twelve of thirteen (92.3%) mothers tested had subnormal 25OH vitamin D. Ten were deficient (<20 ng/ml) and two within the insufficient (<30 ng/ml) range. Ten of seventeen (58.8%) infants had subnormal 25OH vitamin D. Most infants with normal vitamin D levels were tested many weeks after presentation and had been supplemented. Twenty-seven mothers (68%) had 2 or more risk factors for VDD. There was evidence of decreased fetal bone loading in 17/40 (43%) pregnancies. Twenty percent of women had gestational diabetes. Acid lowering drugs which can decrease calcium absorption were used in at least 16 (40%) mothers while pregnant and in 11 (27.5%) of infants.
There were 14.1 ± 9.0 fractures, including classic metaphyseal lesions (CMLs), per infant (range 3-47). One hundred eighty-nine CMLs were encountered in 37 infants (5.1 per infant; range 0-15). Epiphyseal separations were suspected in 5.8% of CMLs. All other CMLs were clinically silent and healed without callus or periosteal reaction. Multiple rib fractures were seen in 33 infants (7.8 per infant; range 2-20). Infants had at least one non-CML fracture at these sites: skull (20.0%), which was always linear and usually diastatic, clavicle(32.5%), thoracolumbar spine(17.5%), appendicular diaphysis (40.0%) or metaphysis (15.0%), scapula (5.0%), and small bones of hands/feet (20.0%). All infants displayed multiple radiographic signs of metabolic bone disease (Table 1).
Conclusions: This study reports a large series of infants with MUFs who had clinical and radiographic evidence of metabolic bone disease likely of multifactorial etiology overlooked during an investigation for child abuse. While metabolic bone disease is a known cause of increased bone fragility and MUFs, its differentiation from inflicted or accidental injury remains challenging. Careful review of the radiographs with attention to the unappreciated signs or risk factors that impair fetal and infant bone mineralization is critical to avoid an erroneous diagnosis of child abuse and its consequences.
* Presenting Authors(s):
, UNITED STATES