Terrance D. Wardinsky

Several medical conditions have been reported to mimic the physical
manifestations of child abuse and neglect (CAN). These conditions include
genetic, congenital, and other disorders that may result in poor weight
gain, bone fracture, or skin lesions that appear to be bruises or burns.
Society demands that medical personnel who care for children be aware of the
many indicators that suggest CAN. This article is a review of 6 of 18 cases
among 264 that were referred to a child abuse team over a 3-year period
because of suspected abuse in which medical disorders were initially and
erroneously diagnosed as CAN. This report also suggests ways to support
aggrieved parents who have been mistakenly reported to be child abusers.

Key words. Child abuse; diagnostic errors; child welfare; genetic;
abnormalities. (J Fam Pract 1995; 41:377-383)

Child abuse must always be suspected in a child with unusual marks or
injuries that do not match the given history.[1] Many pediatric conditions
that resemble child abuse and neglect (CAN) have been reported in the
literature.[2,3] Over several months, as a congenital defect consultant at a
medical center, I have consulted on a number of cases referred to a child
abuse team that, on further assessment, were found to involve genetic or
congenital defect conditions rather than child abuse. This paper briefly
discusses these cases and reviews the current literature addressing genetic
and congenital conditions that have been mistakenly diagnosed as CAN. Once a
mistaken diagnosis has been corrected and CAN ruled out, supportive parental
guidance should be provided.

Case Reports

Patient 1

A 10-month-old infant presented after having "climbed out of her crib,"
falling and striking her head on a hardwood floor. Assessment revealed a
contused left parietal region with a notable linear skull fracture of the
left parietal bone crossing to the frontal region (Figure 1, left). A
follow-up skeletal survey revealed three calloused and healing rib fractures
that were older than the skull fracture (Figure 1, right). Child abuse was
suspected. Although the parents were consistent in explaining the
circumstances of the alleged accident and seeking medical care, the child
was placed in foster care for protection. The skeletal survey was reviewed
by a pediatric radiologist, who noted osteoporosis of the bony architecture.
On further genetic consultation it was revealed that the child had unusual
slate-blue sclera; she was short and had a foot deformity. A skin fibroblast
biopsy was performed because of the possibility of osteogenesis imperfecta
(OI); subsequently, type IV osteogenesis imperfecta was proved by molecular
DNA collagen analysis. The child was returned to her parents after 2 1/2
months in a foster home. Neither the parents nor the sibling showed evidence
of collagen abnormality by skin fibroblast study. One of the unfortunate
consequences of this misdiagnosis was the accumulation of court costs
resulting from the distraught parents' attempts to have their child legally
returned.
Features that may help differentiate 01 from child abuse include: frequent
fractures, radiographic evidence of osteoporosis, short stature with a
frontal boss of the head, bowed extremities, discolored sclera and teeth,
and occasionally a positive family history for this condition. Osteogenesis
imperfecta type IV can be either a spontaneous mutation or inherited as an
autosomal dominant disorder.

Patient 2

A 3-year-old girl with a contusion and swelling on the right side of her
face was referred by the child care center for suspected CAN. The child care
worker was concerned because it appeared that the child had been struck in
the face. Physical examination revealed a healthy appearing child who was in
no acute distress. The child appeared to have a swollen right cheek and neck
with a generalized discolored blue hue and some blue-red marks within the
central area (Figure 2). Closer examination suggested that these apparent
injuries were instead a facial vascular malformation that had progressively
infiltrated the child's face since early age. This suspicion was confirmed
by the mother and medical record documentation. No further assessment was
performed; however, the parent was significantly upset by the implication of
child abuse.

Vascular marks such as hemangiomas usually are present from birth
(congenital) or become evident shortly after birth. They usually are
circumscribed with defined borders and blanch with pressure. Typical
cavernous hemangiomas involute in time as they outgrow their vascular
supply. In contrast to cavernous hemangiomas, vascular malformations, as in
this patient, tend to persist and may even enlarge. Both are sporadic events
and generally are not inherited.

Patient 3

On a well-baby examination, a 7-month-old female infant was noted to have a
head circumference that had increased beyond 2 standard deviations and a
bulging fontanelle with a occipital-parietal boss. The child was reffered
for further workup with the history of occasional lethargy. A head
computerized tomographic scan was performed and was initially interpreted as
showing bilateral subdural hematomas of undetermined cause. Further
assessment for possible infant whiplash from "shaken baby" syndrome was
undertaken; results of the skeletal series, retinal examination, and
coagulation studies were unremarkable. History failed to reveal previous
trauma. The family was referred to the Child Protective Service (CPS) for
home environmental and social evaluation. Indecision and delay in CPS home
evaluation in this case resulted in prolonged admission for protective
observation. The parents were very angry over the initial incrimination. A
pediatric radiology consultation suggested further central nervous system
(CNS) imaging, including a brain magnetic resonance imaging study and
ultrasound of the brain surface. These studies helped rule out traumatic
hemorrhage by demonstrating subarachnoid space enlargement with chronic
cerebrospinal fluid (CSF) collection compatible with benign external
hydrocephaly of infancy, also known as benign communicating hydrocephalus of
infancy (Figure 3). This condition is generally self-limiting and frequently
regresses spontanously.

Patient 4

A 4-year-old girl with ecchymoses and scars predominantly over the lower
extremities but with some on the upper right hand and forearm was referred
by a babysitter. The child was evaluated in the pediatric clinic, and
because of no explanation other than she "seemed to bruise easily," the
child was admitted to the pediatric ward for CAN observation. Family history
was did not reveal any bleeding or skin disorders. Coagulation studies and
radiographs were normal. The CPS agency evaluated the home but could not
find significant dysfunction or CAN. Further consultation revealed that the
child had very smooth, lax skin. The child also had excessive joint
mobility. Although not biochemically proven, she was thought to have
Ehlers-Danlos syndrome types I or II. Because the family subsequently left
the military, no follow-up was available.

Connective tissue disorders classified as Ehlers-Danlos types I to X involve
laxity of skin and joints. Some of the subtypes have a propensity for poor
healing with thin, cigarette-paper-like scar (papyraceous) formation as well
as bruising (Figure 4), and prolonged bleeding and occasional vascular
disruption. Tissues of some patients hold sutures poorly. Ehlers-Danlos
syndrome types I and II are inherited in an autosomal dominant fashion.

Patient 5

The babysitter of a 4-month-old Hispanic male infant called the CPS agency
because of concerns about physical abuse. CPS arranged for further medical
assessment of the infant, which revealed blue mongolian pigmentary marks
over the buttocks, back, and upper thighs (Figure 5). Although the episode
was embarrassing to the parents, who accompanied the child to the clinic
with the CPS social worker, they were understanding after further
explanation .regarding required reporting procedures as well as the normal
occurrence of these birthmarks. Mongolian spots or congenital blue marks are
common to infants of pigmented races. These marks often can be found on the
back, buttocks, and posterior extremities. They usually are of a consistent
color, have defined borders, and tend to disappear with age.

Patient 6

The lifeguard at the community swimming pool referred to the CPS a young
child who appeared to have multiple bruises on her extremities. The child
was evaluated in our clinic, and on further inquiry and record check, a
previous diagnosis of Shwachman-Diamond syndrome was revealed. This
autosomal recessive disorder is associated with short stature, developmental
delay, exocrine pancreatic insufficiency, short ribs with metaphyseal
dysplasia, and isolated or combined decreases in red cell, white cell, or
platelet counts. The patient recently had lowered platelet counts with
increased bruising. Further social and family assessment did not reveal
concerns for CAN. The family was embarrassed by this mistaken diagnosis but
understood the nature of the referral. Conditions that affect the marrow
elements as well as the coagulation cascade may present with bruising and
recurrent episodes of bleeding. A history of excessive bruising is an
indication to rule out bleeding disorders.

Discussion

Making the Correct Diagnosis

Society demands that medical personnel who care for children be aware of the
many indictors that suggest CAN. To prevent a mistaken diagnosis, however,
these caregivers must also be able to recognize that many pediatric medical
and physical conditions can mimic CAN. With society's increased vigilance,
overreporting of conditions that resemble CAN is possible, expecially in the
absence of a complete assessment. This problem is actually encouraged by
civil law, which requires only that abuse is a probable diagnosis.[4]

To determine the frequency and diversity of misdiagnosed CAN resulting in
false accusations of parents or child-care providers, a 36-month
retrospective review of child advocacy case records from January 1, 1988, to
December 31, 199 1, was performed at David Grant Medical Center, Travis Air
Force Base, in California. Cases referred to our CAN team in accordance with
US Air Force Regulation 130-68 are classified as substantiated or
unsubstantiated. Cases are substantiated when an offender confesses and when
CPS or a court determines that maltreatment occurred. Other consideration
toward substantiation is given to the reliability of a witnessed event, the
reliability of the victim reporting CAN, and the opinion of an expert in CAN
that maltreatment occurred.

Without meeting these criteria, the case is considered unsubstantiated. In
the 36-month period during which 504 cases were referred, 264 were
unsubstantiated. Eighteen of the 264 unsubstantiated cases were determined,
after subsequent complete assessment, to have initially received an
erroneous diagnosis of CAN. Eight of these 18 (44%) had established
diagnoses of genetic or congenital defect conditions, as substantiated by a
review of medical records. Six of the 8 patients were subjected to extensive
CPS evaluations. The remaining 10 of the 18 patients were found to have
common pediatric diagnoses, eg, impetigo, fungal skin infections, sunburn,
stocking constriction marks, that initially were thought to be markers of
CAN. These 10 patients had either minimal or no CPS referral.

Although in the past decade there have been several reports of misdiagnosed
cases of CAN and the conditions that mimic abuse, no specific population
data are currently available to estimate the true number of CAN false
reports. Based on this retrospective review, it appears that the incidence
of misdiagnosis is rather high: 18 (7%) of 264 unsubstantiated cases, or 18
(3.5%) of 504 if both substantiated and unsubstantiated cases are included.
One reason for the higher rate in this study of a military population may be
overreferral secondary to the ready access to and availability of physicians
and social workers afforded by the military's mandated Family Advocacy
Programs. However, it does not appear that the rate of CAN is any higher in
the military than in civilian populations.[5]

Many inherited connective tissue disorders can lead to a mistaken diagnosis
of CAN because patients present with poor weight gain and failure to thrive
or with skin lesions that appear as bruises, burns, and bone injury.
Approximately one half (8/18) of the cases in this report were found to
involve genetic or congenital defect conditions that involved skin or
skeletal findings rather than physical abuse. The Table lists many of the
signs and symptoms of genetic and congenital conditions that, because of
their nature and subtle presentations, have been mistaken as abuse. Several
conditions, such as skin, skeletal, and connective tissue disorders,
hematological and coagulation diseases, musculoskeletal ailments, metabolic
disorders, and congenital defects, have been previously reported. Because
cases involving these systems can be confusing, further consultation with a
child advocacy specialist or geneticist may be helpful to rule out these
conditions. Bone density, specific fracture types indicative of CAN (ie,
rib, epiphyseal-metaphyseal, vertebral compression, periostitis, and lateral
clavicle), patterns of distribution, and different stages of healing are
hallmarks that help separate inheritable bone and connective tissue
disorders from traumatic bone and skin lesions typically associated with
child abuse.

Benign external hydrocephaly, also known as communicating hydrocephaly or
Schwachman-Diamond syndrome, has not previously been reported in the
literature as mimicking CAN. Benign external hydrocephaly, which can be
confused with CNS injury, may be differentiated by CNS imaging studies, such
as computed tomography, magnetic resonance imaging, and ultrasound, to
separate densities of the meningeal layers and spinal fluid from traumatic
injuries that result in the collection of blood.(24)

The worst of all scenarios occurs for parents of infants and children who
die suddenly and unexpectedly of an inheritable disorder and whose injuries
or illness may have initially been misdiagnosed as CAN. A recent example of
this was presented on a television movie, Without a Kiss Goodbye, based on a
true story of metabolic disorder methylmalonic aciduria presenting as severe
failure to thrive and death in a young infant. The mother, after a trial,
was imprisoned for CAN. While in prison, she gave birth to another child
who, immediately placed in foster care, deteriorated in a fashion similar to
that of the sibling. On more extensive workup, the second infant proved to
have methylmalonic aciduria and was treated. The mother and family were
eventually exonerated.
In some circumstances, the failure to properly diagnose may allow a
treatable disorder, eg, hemophilia or osteogenesis imperfecta, to go
unrecognized. On the other hand, it is worth remembering that children with
these unusual conditions could also be victims of CAN.[6]

Supporting Wrongly Accused Parents and Caretakers

Physicians who inadequately assess or inappropriately refer suspected cases
may produce emotional harm to the misdiagnosed child and family and
potentially may be liable for incomplete evaluation prior to reporting.[25]
Inappropriate reporting may do irreparable harm to the patient-physician
relationship. Civil and criminal charges and subsequent foster home
placement may follow. Several cases reported in this review involved
extensive CPS evaluations with prolonged hospital stays for protective
observation. Unfortunately, a child may be placed within the foster system,
as occurred with the first patient in our series. This child was removed
from her family for 2 1/2 months prior to the skin fibroblast biopsy that
proved the diagnosis of osteogenesis imperfecta type IV. In addition to
losing the care of a mother or father or both, a child in the foster care
system may be shifted from home to home. An aggrieved parent may lose trust
in health professionals to the extent of hiding genuine accidental trauma
for fear of being reported.[26]

Once a mistaken diagnosis has been made, it may be difficult to repair the
parental anguish of having been "reported as a child abuser." We have
identified several methods that can be helpful in supporting parents who are
falsely accused: (1) an apology to the parent(s) by those making the report,
(2) an explanation of the child protective process that is geared to
overreporting in an effort to protect children, (3) individual and family
counseling, including education about the newly discovered diagnosis, (4)
formal psychologic counseling, (5) participation in educational conferences
and talking with other families mistakenly reported as perpetrators of CAN.
It also is especially important to counsel children that the unfortunate
series of events related to the false report of CAN is not "their fault."

Conclusions

Several genetic and congenital defect conditions have been presented that
may be misdiagnosed as CAN. Physicians who evaluate children for possible
CAN must be aware of the many genetic and congenital defect signs and
symptoms, eg, bone, hematologic, skin, and metabolic conditions, that can
mimic CAN. As clinicians, we must completely assess all the circumstances
and appreciate the complete diferential diagnosis of these disorders that
may be mistaken for CAN in order to prevent the anguish associated with
mislabeling caretakers as child abusers. If, after appropriate evaluation
including consultation, it is still unclear whether child abuse or neglect
is involved, it is better to report suspected CAN than to do nothing, as the
consequences of failing to detect and report CAN are far worse than these of
mistakenly diagnosing CAN.

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