Rash - Case 9-2: 7-Week-Old Girl
Rash - Case 9-2: 7-Week-Old Girl: Excerpt from Pediatric Complaints and Diagnostic Dilemmas
I. History of Present Illness
A 7-week-old Caucasian girl had initially presented to a hematologist for
evaluation of bruising. Her mother had noted several small purple bruises on
her right arm and a linear bruise across her left cheek at age 3 weeks. At 5
weeks of life, she had been noted to have linear and circular bruises along her
buttocks and legs. Laboratory evaluation at that time revealed a normal
complete blood count and differential, normal prothrombin time (PT) and partial
thromboplastin time (PTT), and normal platelet aggregation studies in response
to adenosine diphosphate (ADP), collagen, and ristocetin. Epinephrine-induced
platelet aggregation studies were mildly low but consistent with testing
variability. Factor XIII level was normal.
At 11 weeks of life, she was brought to the emergency department after having
had a possible seizure at home. Her father reported that she had an episode of
stiffening of her arms and body during her afternoon feeding. Her eyes had
rolled back in her head. After stiffening, her body became limp and she had
shallow breathing, but no cyanosis. The child had had decreased oral intake
during the day before the episode. There was no recent history of fever,
vomiting, diarrhea, or trauma. Immunizations, including
diphtheria-tetanus-pertussis (DTaP) vaccine, had been given 2 days before the
episode.
II. Past Medical History
The child was born at full term, of an uncomplicated pregnancy and delivery, and
weighed 3,500 g at birth. She was delivered vaginally without complication. She
had previously been evaluated for the bruising at her pediatrician
's office at 3 and 5 weeks of age, as noted. Child protective services had been
contacted by the pediatrician for the bruising, but the case was determined to
be unfounded and was closed. Family history was significant for an uncle with
frequent nosebleeds and a first cousin who was born with a
“platelet problem” that necessitated platelet transfusion at birth.
III. Physical Examination
T, 37.0°C; RR, 43/min; HR, 180 bpm; BP, 113/53 mm Hg
Height, 50th percentile; weight, 50th percentile
The physical examination was remarkable for a hemangioma of the left occiput, a
hematoma of the tip of the tongue, and two ecchymotic areas on the right
mandible, each about 1 cm in diameter. She had three 3- to 4-cm ecchymotic
areas on the left back. A caf
é-au-lait macule (1 cm) was seen on the left thigh. Lungs were clear. Cardiac
examination revealed tachycardia but no murmurs, rubs, or gallops. There was no
hepatosplenomegaly and no prominent adenopathy. Neurologically she was alert,
crying, and moving all extremities. Funduscopic examination revealed right
retinal hemorrhages. The rest of her examination was normal.
VI. Diagnostic Studies
Laboratory analysis revealed 18,800 WBCs/mm3, with 39% segmented neutrophils, 49% lymphocytes, and 11% monocytes. The
hemoglobin was 11.4 g/dL, and there were 406, 000 platelets/mm
3. PT and PTT were normal. Electrolytes, BUN, and creatinine were normal.
Alkaline phosphatase was 270 mU/mL. Other liver function studies were as
follows: alanine aminotransferase, 100 IU/L; aspartate aminotransferase, 220
IU/L; and
γ-glutamyltransferase, 46 IU/L. Examination of the cerebrospinal fluid revealed 8
WBCs/mm
3and 5,250 red blood cells/mm3. The glucose concentration was 60 mg/dL, and the protein concentration was 36
mg/dL. There were no organisms on Gram staining of the CSF.
V. Course of Illness
The patient was admitted to the intensive care unit. Electroencephalography
revealed no seizure activity but was consistent with diffuse cerebral edema.
Examination of the chest radiograph (Fig. 9-2), in conjunction with the
clinical examination findings, suggested a diagnosis.
Discussion: Case 9-2
I. Differential Diagnosis
Bruising caused clinicians to consider hematologic causes primarily. The initial
workup was done to evaluate for von Willebrand
's disease, which causes decreased platelet adhesiveness, impaired agglutination
of platelets in the presence of ristocetin, and prolonged bleeding time. The
usual presentation is mild to moderate bleeding involving mucous membranes,
including easy bruising, epistaxis, and prolonged bleeding after dental
procedures. In boys, hemophilia (factor VIII and IX deficiency) should be
considered. These children have bruising with a firm or nodular consistency
because of deep soft-tissue bleeding. Vitamin K deficiency can be seen in
patients with fat malabsorption syndromes, and hemorrhagic disease of the
newborn may be seen in those not given vitamin K at delivery. In these infants,
signs and symptoms typically occur within the first few days of life and
include diffuse bruising and, rarely, catastrophic central nervous system
bleeding. However, the timing in this case was not consistent with vitamin K
deficiency. ITP, an acute and self-limited illness that causes bruising and
petechiae 2 to 4 weeks after a minor illness, could be considered. This infant
did not have any preceding illness, and her platelet count was normal. The peak
age for presentation with ITP is 2 to 5 years, and infants who are diagnosed
before 1 year of age have a high likelihood of developing chronic symptoms.
Leukemia was considered less likely on the basis of a normal complete blood
count in the context of significant bruising and bleeding. Anticoagulant
ingestions from medications or commercial rat poison have been seen in older
children and in cases of Munchausen syndrome by proxy, but this child had
normal PT and PTT times, which would not have been the case after ingestion of
anticoagulants.
Dermatologic considerations include Mongolian spots, which are rare in Caucasian
children and do not progress through the color changes indicative of a healing
bruise. These slate-blue patches of skin are commonly seen in pigmented skin.
Phytophotodermatitis is a skin reaction to psoralens (a chemical compound in
citrus fruits such as limes). After contact with psoralens and on exposure to
sunlight, this manifests as red marks that appear as bruises or burns. The
locations of the lesions, as well as the child
's age and lack of contact with psoralens, made such a diagnosis unlikely.
Hemangioma was considered. Unlike this child
's lesions, hemangiomas undergo a typical growth pattern of rapid growth for the
first 6 months of life, then a slowing of growth until 3 years. This child
's lesions resolved and then new ones appeared. Approximately 85% of hemangiomas
spontaneously involute or partially regress, but not until later childhood.
Collagen vascular diseases should be considered. Ehlers-Danlos syndrome (EDS) is
a congenital defect in collagen synthesis that may lead to easy bruising. Many
forms have been identified that involve a variety of basic defects and
inheritance patterns. This child did not display the clinical triad seen in
these patients: skin hyperextensibility, joint hypermobility, and skin
fragility. Osteogenesis imperfecta is a congenital abnormality of quality or
quantity of type I collagen synthesis. Of the four subtypes, type I is
associated with easy bruising and fractures as seen in this child, but this
child did not display other signs, such as blue sclera, hearing impairment,
osteopenia, bony deformities, and excessive laxity of joints. Should a question
have persisted, a punch biopsy of skin for analysis of collagen synthesis would
confirm the diagnosis. Infectious causes were unlikely given the timing of the
child
's lesions. Child abuse remains the most alarming cause of unexplained bruising
in children.
II. Diagnosis
Chest radiograph revealed fractures of the left sixth and seventh posterior ribs
(Fig. 9-2). Computed tomography (CT) of the head revealed right subarachnoid
hemorrhage, right subdural hemorrhage in the right interhemispheric fissure,
and cerebellar convexity. There was also left intraventricular hemorrhage and
left caudothalamic parenchymal hemorrhage. A skeletal survey was obtained,
which demonstrated splayed cranial sutures and callused fractures at left
tibia.
The diagnosis was child abuse. The parents continued to deny any knowledge of who could have harmed their
child. The child was removed from the home and placed in protective custody
with grandparents.
III. Incidence and Epidemiology
Child abuse is an all too common diagnosis. Soft tissue trauma or skin injuries
such as bruising are frequently the earliest and most common manifestation of
physical maltreatment. A number of studies have shown that many seriously
injured children had been evaluated previously for bruises or burns, just as in
this case. Johnson and Showers showed in an epidemiologic study of injury
variables that children with evidence of chronic maltreatment, such as these
bruises, are at a 50% risk for further abuse and at a 10% risk for fatal
injury.
IV. Clinical Presentation
The diagnosis of child abuse must be considered in all cases in which a child's injuries cannot be explained and there is a discrepancy between the physical
findings and the history. In a study of bruises occurring in children 6 to 9
months of age, Carpenter found that all accidentally acquired bruises were on
the front of the body and that no bruise was greater than 1 cm. In a larger
study of children, Sugar et al. demonstrated that only 2.2% of bruises occurred
in infants who did not walk or cruise, and only 0.6% occurred in children
younger than 6 months of age. In cases that did not involve abuse, bruises were
small, few, and located on bony prominences. Typical accidental bruises involve
the skin overlying bony prominences such as the anterior tibia, knees, elbows,
forehead, and dorsum of the hands. Parents can usually give explanations for
how the bruises occurred, unlike these parents.
The shape of the bruise may also suggest intentional harm. Finger and thumb
prints may be found on the arms where a child has been forcefully held. A blunt
instrument often leaves a bruise that resembles the shape of the instrument.
Loop-shaped marks are caused by a folded extension cord or rope.
V. Diagnostic Approach
The most helpful aid to the diagnosis is a high index of suspicion. The most
common reason for missing the diagnosis of abuse is that it was not considered
before atypical presentations of medical disorders. Bruises should be evaluated
by a history that includes explanation of the injury, with evaluation of that
explanation from a developmental perspective. A medical and family history of
conditions associated with easy bruisability or those that mimic bruising
should be investigated. Any prior maltreatment should also be uncovered.
Physical examination should include a detailed description of the injury,
identification of patterns associated with abuse, and a search for other
injuries. Laboratory studies are indicated only if suggested by the history or
physical examination. Unfortunately, it is sometimes difficult to distinguish
accidental injury from abuse or to distinguish abuse from diseases or other
conditions that produce similar changes. These disorders include bleeding
diathesis, connective tissue disorders, dye, paint, folk remedies, and
phytophotodermatitis.
Diagnostic studies to consider include the following.
Prothrombin time, partial thromboplastin time, bleeding time. Screening tests for a bleeding diathesis should be obtained if medically
indicated.
Roentgenologic bone survey. If physical abuse is suspected in a young child, radiographs of the skull,
thorax, and long bones may reveal recent or old fractures. This is important
because clinical manifestations of nondisplaced fractures may resolve within 1
week, whereas the radiographic manifestations persist for longer periods. For
verbal children (usually older than 4 years of age), radiographs are required
only if there is bone tenderness or restricted range of motion on physical
examination. Fractures of ribs, scapula, or sternum should arouse suspicion of
nonaccidental trauma.
Retinal examination. Retinal hemorrhages should always raise concern for abuse.
VI. Treatment
The injuries suffered by the child should be managed as medically indicated. The
state division of child and family services should be notified in all cases of
suspected abuse. Removal from the home and placement in foster care may be
required. In this case, once the child was removed from the home, no additional
lesions were noted.
VII. References
1. Carpenter RF. The prevalence and distribution of bruises in babies. Arch Dis Child 1999;80:363–366.
2. Giardino AP, Christian CW, Giardino ER. A practical guide to the evaluation of child physical abuse and neglect. Thousand Oaks, CA: Sage Publications, 1997:61–74.
3. Johnson CF, Showers J. Injury variables in child abuse. Child Abuse Neglect 1985;9:207–215.
4. Sugar NF, Taylor JA, Feldman KW. Bruises in infants and toddlers: those who
don
't cruise rarely bruise. Arch Pediatr Adolesc Med 1999;53:399–403.
Pictures
Book Source Details
- Book Title: Pediatric Complaints and Diagnostic Dilemmas
- Author(s): Samir S Shah MD; Stephen Ludwig MD
- Year of Publication: 2003
- Copyright Details: Pediatric Complaints and Diagnostic Dilemmas, Copyright © 2003 Lippincott Williams & Wilkins.
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Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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