MULTIPLE FRACTURES IN INFANCY: CHILD ABUSE….OR UNDIAGNOSED VITAMIN D DEFICIENCY? Amanda Messer, MD, PGY III June 16, 2015
Case
Female born at 27 3/7 WGA
Prenatal history:
No prenatal care Emergency C-Section due to HELLP syndrome Mom discovered she was pregnant when she presented to the hospital with anxiety attack – had very high BP and baby delivered emergently
Mother:
Apgar 7 and 9 926g (26-50%)
Methamphetamine use ½ pack cigarettes/day Anxiety disorder (takes Xanax, Soma, Lortab)
Father:
methamphetamine and marijuana use
Case
Utox, mec tox negative NICU Course
HUS
Stage 2 ROP, anemia 71 days (36 5/7) Weight 2045g Neosure 22cal/oz + Fe
CPAP
x 4 days Many CXR taken, no documentation of clavicle or rib fractures Hyperbilirubinemia PDA
AOP
Discharge: ASD,
RDS
Stage
normal
1 ROP
After the NICU: Parents
missed two ophthalmology appointments
One month later…
Father drops baby Baby arched back, slipped from his arms and hit the floor Thin carpet over concrete, ~59 inches high Baby fell on her head, immediately cried Respiratory distress, shallow breaths Stopped breathing Dad called 911, tried CPR
Paramedics arrived in 6 minutes GCS 3 EKG – sinus brady (25-30bpm) Pupils nonreactive
No bruises noted on EMT report
Hospital Course
Exam: GCS
3 Pupils fixed and dilated, Diffuse retinal hemorrhages bilaterally Bradycardic, diminished pulses Bruising to left temple and left mandible Three areas of bruising at left shin
Acidotic pH
6.85, CO2 80.5, Bicarb 14.2
Hospital Course
Na, K, Phos, Mg, ionized Calcium normal, Serum Calcium low, Glucose 321 Hb 6.8, Hct 20%, platelets normal, coags mildly increased LFTs elevated (AST 709 U/L, ALT 363 U/L) Alk phos 882 Xrays: multiple healing rib fractures and healing left clavicle fracture (27 fractures), in different stages of healing CT: global cerebral edema with parafalcine accentuation Declared brain dead two days later Post-mortem: vitamin D low at 13ng/mL (normal 30-100) Radiology: bones were not calcified as well as they should have been radiographically
Case
Neither parent could explain the fractures Day after incident, dad was positive for: Methamphetamine THC
Defense Expert’s Case
Neither the fractures nor her CNS or retinal findings were due to physical abuse Explained
by fall from father’s arms Multiple old fractures were secondary to metabolic bone fragility disorder
Defense Expert’s Case: Head Trauma
Debate re: abusive head injury without obvious external signs of battery Triad
of subdural hemorrhage, retinal hemorrhages and encephalopathy used to be pathognomonic for SBS Others say, if shaking that violent, would also see cervical fracture or spinal cord injury No proven causal relationship between shaking and the triad without associated impact
In other words, nothing saying the brain injury wasn’t from the accidental fall
Defense Expert’s Case: Fractures
Multiple asymptomatic healing fractures Prematurity
= risk factor for metabolic bone disease 27 fractures without evidence of high-force blunt thoracic trauma or intrathoracic injury Nearly
impossible for infant with normal bone strength to sustain 27 fractures without anyone detecting them
Literature
that reports specificity of rib fractures for abuse = flawed. “It
is opinion and conventional wisdom.”
Defense Expert’s Case: Fractures
Patient meets diagnosis for bone fragility disorder Fracturing
with minor forces regardless of how the bones look on plain films or DEXA scan Her fractures are not pathognomonic or highly specific for child abuse “There
is no fracture that cannot also be seen in accidental injuries”
Radiologists
cannot diagnose child abuse
Defense Expert’s Case: Risk Factors for Fragile Bones
Maternal smoking No PNC Maternal anxiety Maternal HELLP Breech presentation Prematurity Decreased fetal movement secondary to medical conditions associated with prematurity Anemia Low vitamin D level Radiographic osteopenia Co-sleeping with patient and father Fracturing in the first seven months of life
Child Abuse Expert
Multiple rib fractures and left clavicular fracture appear to be 2-4 weeks old T12 vertebral body compression fracture Buckle-type fractures at distal right femur, distal left femur, proximal left tibia more acute than the other fractures Generalized osteopenia Global anoxic brain injury Bilateral, multilayer retinal hemorrhages TNTC
Does not occur from being dropped on head or from CPR
Bilateral brain bleeds more suggestive of something that happened to the whole head as opposed to a single impact Diagnosis: child physical abuse with absuve head trauma (including a component of violent shaking)
In Court…
How can you be sure the low vitamin D level did not cause her fractures? How can you be sure this is child abuse, when the patient has metabolic bone disease? Low
vitamin D level Osteopenia on xrays
Vitamin D Deficiency and Bone Fractures
Bone fragility due to low vitamin D alternative explanation for NAT? Potential
for misdiagnosis? Putting children at further risk if missing NAT
A Popular Question!
Vitamin D Review
Sources:
Fish oil, egg yolk, liver, fortified milk, sunlight
Functions:
Maintains calcium and phosphorous levels
Increases reabsorption of calcium and phosphorous from the intestine
Required for mineralization of epiphyseal cartilage and osteoid matrix
Receptor on osteoblasts Stimulates release of ALP
ALP dephosphorylates pyrophosphate (which normally inhibits bone mineralization)
Stimulates macrophage stem cell conversion into osteoclasts
Rickets
Bony malformation due to any abnormality in the production and excretion of calcium and phosphate Under-mineralization of the growth plate Only
occurs in children with open growth plates
Abnormality in Calcium, Phosphorous or Vitamin D metabolism Results
in secondary hyperparathyroidism
Rickets
Patients present with irritability, weakness, fractures and growth retardation Findings: Frontal bossing, craniotabes, widened sutures, rachitic rosary, flared wrists Diagnosis: Abnormal
calcium and phosphorous, elevated ALP X-ray changes at growth plates (wrists and knees) Irregularity
of calcification, cupping of metaphyses, fraying and widening of growth plate, diffuse osteomalacia, nodules at ribs
Rickets + Vitamin D Deficiency
Vitamin D-deficiency most common cause of rickets, even in industrialized countries Most commonly in infants due to poor intake and inadequate cutaneous synthesis Severe
maternal vitamin D deficiency could affect infant’s levels
Rate of Rickets
Hard to tell No
screening in PCP offices
Eradicated in US in 1930 with discovery of vitamin D benefits Prevalence must be estimated CDC
estimates 5 cases per 1 million children between the ages of 6 months – 5 years In
multiple studies, most affected children are black
Rates of Rickets
Mayo Clinic Study, 2013, Minnesota Incidence of Nutritional Rickets in Children
