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In Depth Tutorials and Information
FIGURE 42.5
Forty-four-day-old S/P fall from couch. (a) RT subdural hemorrhage with mass effect causing RT to LT shift and subfalcean
herniation. Diffuse bilateral cerebral edema. (b), (c) Diastatic LT parietal fracture with herniation of brain through the defect. (d) Same patient as
in (a-c). Abdomen could not be assessed due to neurological status. Contrast-enhanced CT abdomen demonstrates grade 4 liver laceration.
identified on physical examination and through previ-
ous well-documented examinations.
29
Most patients
with type II, III and IV OI as well as those with more
recently described types (types V-VIII) will have sufi-
cient clinical findings that will lead to a rapid diagnosis,
either pre- or postnatally. However, infants with mild
type I OI can go undiagnosed. Pertinent physical find-
ings to be documented include the presence or absence
of blue sclerae, dentinogenesis imperfecta (capable of
being seen on initial eruption of teeth), hearing loss,
hyperextensibility of joints and, at times, hypotonia.
More subtle findings can occasionally be seen includ-
ing mild hyperelasticity of skin, slow linear growth and
delayed skeletal maturation.
The radiologic signs that may assist in differentiat-
ing the child with OI from NAT can also be subtle.
30
A
radiologist experienced in the field of child abuse, how-
ever, can often develop a high probability of the diag-
nosis of suspected abuse based on the combination of
findings seen on a skeletal survey and the detailed
history provided surrounding the injury. Transverse
fractures of the long bones are the most common frac-
ture seen in patients with OI. Long bone fractures are
also common in patients with NAT.
11
When healing
fractures are encountered, particularly in the weight-
bearing bones, the presence of bowing would make OI
more likely and NAT less likely. Furthermore, there is a
greater likelihood of encountering multiple fractures in
different stages of healing in a patient with NAT than in
a patient with OI. A subjective visual assessment of the
bony mineralization and cortical thickness is essential
to determine if the bones have normal mineralization.
As mentioned above, however, in the case of type I OI,
the still normal bony mineralization seen in an infant
who presents with a fracture poses a diagnostic chal-
lenge. Other confirmatory tests are needed. CMLs
and rib fractures are quite rare in patients with OI and
when present are usually identified with accidental
injury. When rib fractures are present in patients with
OI, they tend to be single versus the multiple, bilateral
healing rib fractures frequently seen in patients with
NAT. Inspection of the skull X-rays for excessive (>10)
Wormian bones suggesting OI is a vital part of assess-
ment of the skeletal survey.
DIFFERENTIAL DIAGNOSIS OF THE
CHIL
D WITH MULTIPLE FRACT
URES
In addition to the various types of OI, numerous
other medical conditions can masquerade as NAT
(
Tables 42.1-42.3
). Any disorder that has the poten-
tial for affecting bone density as well as elasticity can
lead to fracture formation. In a pediatric setting, pre-
maturity and rickets are the most frequently seen con-
founders. With increasing survival of low birth weight
and extremely low birth weight infants, patients with
fractures in the neonatal intensive care unit are no lon-
ger rare occurrences. Some of these infants are at risk
for hospital-acquired fractures as a result of routine
physical therapy, phlebotomy and normal handling.
Appropriate laboratory investigation, detailed below,
