Symptom-Based Diagnosis in Pediatrics (CHOP Morning Report) 1st Ed.

CASE 9-2

Eleven-Week-Old Girl



The patient, an 11-week-old Caucasian girl, presented for evaluation of unexplained bruising. Her mother reported that she had noticed several small purple bruises on her right arm and a linear bruise across her left cheek at 3 weeks of age. Her mother noted linear and circular bruises along her buttocks and legs at 5 weeks of age. Her mother denied any history of trauma that may have caused the bruises. Laboratory evaluation at that time included a complete blood count, prothrombin time (PT), activated partial thromboplastin time (aPTT), international normalized ratio (INR), thrombin time (TT), von Willebrand factor activity, von Willebrand factor antigen, and factor VIII. All test results were in the normal range.

At 11 weeks of life the patient was brought to the emergency department after her mother again noted her to have purple, red lesions on her face and back. Her mother reported that she noticed the marks that evening after she returned home from work and bathed the infant. Her father reported that she had been unusually fussy during the day and cried whenever she was picked up. She also had decreased oral intake during the day. There was no recent history of fever, vomiting, or diarrhea, and no history of trauma. Immunizations had been given 2 days prior.


The child was the full term, 3500 g product of an uncomplicated pregnancy. She was delivered vaginally without complication. She did not have a history of prolonged bleeding from her umbilical stump. She had been evaluated for the bruising at her pediatrician’s office at 3 and 5 weeks of age. Her pediatrician had performed a full physical examination at that time and noted no other abnormalities or signs of injuries. Her pediatrician had referred her to a hematologist who had performed the laboratory evaluation detailed above. Family history is significant for an uncle with frequent nosebleeds and a first cousin who was born with a “platelet problem” requiring platelet transfusion at birth. Social history reveals that she lives at home with her mother, father, and a pet cat. Her father cares for her while her mother is at work.


T 37.0°C; RR 43/min; HR 180 bpm; BP 113/53 mmHg

Height 50th percentile; Weight 50th percentile

Physical examination revealed an alert infant who was calm while lying still in the crib but cried when picked up. Her anterior fontanel was flat and soft. Pupils were equal and reactive to light. Cardiac examination revealed tachycardia but no murmurs, rubs, or gallops. Lung examination was clear. Her abdomen was soft and nontender without hepatosplenomegaly. No prominent adenopathy. Her skin 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 3-4 cm ecchymotic areas on the left back. Neurologically she was moving all extremities and had normal tone. No tenderness or deformity was noted with palpation of her extremities. Palpation of her left chest caused her to cry and elicited crepitus which felt like rough surfaces grinding. The rest of her examination was normal.


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/mm3. Prothrombin and partial thromboplastin times were normal. Electrolytes, blood urea nitrogen, and creatinine were normal. Alkaline phosphatase was 270 mU/mL. Other liver function studies were ALT, 100 IU/L; AST, 220 IU/L; and GGT, 46 IU/L.


Examination of the chest radiograph (Figure 9-2), in conjunction with the clinical examination, suggested a diagnosis. Patient was admitted to the intensive care unit for further evaluation and management.


FIGURE 9-2. Chest radiograph.



The differential diagnosis of “bruises” in a young infant includes dermatologic conditions, hematologic, and oncologic diseases, connective tissue disorders, vasculitis, folk remedies, and trauma (Table 9-3).

TABLE 9-3. Differential diagnosis of bruises in infants and young children.



Dermatologic conditions that may be mistaken for bruises include dermal melanosis or Mongolian spots which are characterized by blue-gray macules. Lesions typically have less distinct borders than bruises and do not appear inflamed. Unlike bruises, dermal melanosis lesions will remain unchanged in color and size over days to weeks. The red-purple color of a superficial hemangioma may also be mistaken for a bruise but can be distinguished by its typical pattern of rapid growth for the first 6 months of life, then a slowing of growth until 12-18 months, followed by involution. Other dermatologic conditions that may be mistaken for bruises are phototoxic reactions to psoralens (a chemical in citrus fruits) and other plants and photoallergic reactions to bergamot which may be found in perfumes. The locations of these lesions, the child’s age, and the lack of contact with psoralens or bergamots made such a diagnosis unlikely.

Hematologic disorders both inherited and acquired can lead to bruising in infants following minor trauma or even in the absence of trauma and were considered in this case. The type and pattern of bruising and bleeding may suggest a particular hematologic disorder. A history of easy bruising, epistaxis, gingival bleeds, and menorrhagia may suggest Von Willebrand disease, the most common inherited bleeding disorder. Male children with hemophilia (Factor VIII and IX deficiency) may have a history of excessive bleeding following circumcision, present with bleeding into the muscles and joints and have a prolonged PTT. Infants who did not receive appropriate vitamin K supplementation following birth are at increased risk for developing vitamin K deficiency bleeding (VKDB) and will have a prolonged PT and possibly prolonged PTT. Idiopathic thrombocytopenic purpura (ITP), an acute and usually self-limited illness that presents with bruising and petechiae, could be considered in the differential but is excluded in this case due to the normal platelet count. Disseminated intravascular coagulation (DIC) is unlikely in this case given the several week time frame over which the bruises occurred, well appearance of the infant, lack of signs of associated illness and normal coagulation studies, and platelet count. Several other less common hematologic disorders including platelet function defects, factor deficiencies (VII, X, XI, and XIII), a2-antiplasmin deficiency and fibrinogen deficiencies may cause easy bruising. Many, but not all, of these hematologic disorders will cause abnormalities in the screening coagulation studies this infant underwent. Oncologic diseases including leukemia can present with bruising but are less likely in this case based on the normal complete blood count and lack of other symptoms.

Elhers-Danlos syndrome is a congenital defect in collagen synthesis characterized by skin hyper-extensibility, joint hypermobility, and skin fragility which may lead to cutaneous injury including bruising and lacerations following minor trauma. Henoch-Schönlein purpura (HSP), a vasculitis that most commonly occurs in children 2-7 years old, causes palpable purpura that may be confused with bruises.

Although there is a broad differential for the causes of bruises, trauma and nonaccidental trauma must be considered in a young nonambulatory child presenting with bruises.


Chest radiograph revealed fractures of the left 6th and 7th posterior ribs (Figure 9-2). A complete skeletal survey was performed which revealed metaphyseal fractures of the left distal femur, left proximal tibia, and right distal radius. A computed tomography (CT) of the head demonstrated bilateral chronic and acute subdural hemorrhages. Ophthalmologic examination showed multiple intraretinal hemorrhages in both eyes. The diagnosis was child abuse. The parents denied any knowledge of trauma to the child and reported they were the sole caretakers. A report was made to child protective services (CPS), prompting an investigation.


Each year more than 120 000 children are substantiated as victims of physical abuse in the United States, but the true incidence is likely higher. Infants under the age of 1 year are at the highest risk of experiencing and dying from child abuse and neglect.


Victims of child physical abuse may present for medical care in several ways. A caregiver who is unaware that the child has been injured may bring the child for care as a result of symptoms he or she observed. Alternatively, perpetrators of the abusive injury sometimes bring the children for care but may provide a misleading history. In other cases, children are brought for care after someone witnesses an abusive event or notes a suspicious injury and makes a report. Lastly, injuries from physical abuse may be noted during the course of medical evaluations performed for unrelated concerns.

Cutaneous injuries such as bruising are the most common manifestation of physical abuse and have been reported in up to 92% of children hospitalized due to suspected abuse. Although bruises are common in active children, they are unusual in young, nonambulatory infants and should raise suspicion for abuse or underlying disorder. In a prospective study of 973 infants and toddlers seen for well-child care visits, only 0.6% of infants less than 6 months of age and 1.7% of infants less than 9 months of age had any bruises. Only 2.2% of nonambulatory children had bruises, but 17.8% of children who were walking with support and 51.9% of children walking without support had bruises. Bruises in certain locations should also raise the possibility of abuse. The majority of accidental bruises are located over bony prominences such as anterior tibia, knees, elbows, and forehead. Bruises on the torso, neck, and ear are uncommon accidental bruises and in the absence of a clear confirmatory history of accidental trauma should prompt a consideration of possible inflicted trauma. Patterned bruises should also prompt suspicion for inflicted trauma.

Other injuries that child victims of physical abuse may present, which include but are not limited to, are fractures, traumatic brain injury, burns, bites, and abdominal injuries. Traumatic brain injury is the most common cause of morbidity and mortality from physical abuse.


Although the majority of injuries in children are accidental and not abusive, it is important to maintain a high index of suspicion for abuse when evaluating young injured children. Retrospective studies have demonstrated that medical professionals frequently fail to recognize and evaluate abuse resulting in children suffering from medical complications related to untreated injuries and further abusive injuries, including fatal injuries.

A thorough and detailed history including mechanism of injury should be performed in all cases of suspected physical abuse. A list of potential red flags on history for physical abuse is included in Table 9-4. Family history of diseases that may increase the severity of injury following minimal trauma should be obtained. A social history including a prior history of maltreatment should be performed. Physical examination should include an evaluation of growth to identify failure to thrive or malnutrition. A thorough skin examination for bruises, burns, and bite marks should be performed as well as an oral examination for soft tissue injury, tooth fractures, and dental neglect. An abdominal examination should be performed to identify any tenderness or other signs of abdominal injuries. The extremities, ribs, and head should be carefully palpated to identify signs of acute or healing fractures.

TABLE 9-4. Findings on history that may suggest inflicted trauma.

• Lack of history to explain injury

• History that changes with time

• Histories provided by different caregivers are conflicting

• History that is inconsistent with the developmental level of the child

• History that is inconsistent with the injury

• Unexplained delay in bringing child for care

• History of home resuscitative efforts causing the injuries

• History of siblings causing the injuries

The findings outlined above have been identified as potential red flags for child abuse.

Radiologic studies may be needed to evaluate for occult injuries. Fractures, the most common type of occult injury, are identified on skeletal surveys in approximately one-third of physical abuse victims less than 2 years old. Occult head injuries including skull fractures and intracranial hemorrhage are also common in young victims of physical abuse. Thus, physicians should have a low threshold for performing head imaging in young children with injuries from suspected abuse. Although less common than occult fractures and occult head injury, occult intra-abdominal injuries can occur and thus screening for occult abdominal trauma should be considered. Finally, an ophthalmologic examination to evaluate for retinal hemorrhages should be conducted if there is any traumatic brain injury. A summary of recommendations for occult injury screening in suspected victims of abuse is provided below.

Diagnostic studies to consider include the following:

Skeletal survey. A skeletal survey should be performed in all suspected victims of child physical abuse under age 2 years. Follow-up skeletal surveys performed 2 weeks after the initial skeletal survey should be considered as they can help to clarify tentative findings on the initial radiographs and show healing injuries that were not visible in the acute stage on initial radiographs.

Head imaging. Head imaging with CT or MRI should be performed in all cases in which intracranial injury is suspected based on history or physical examination findings. Head imaging should also be strongly considered to evaluate for occult head injuries in children under the age of 2 years with injuries suggestive of a shaken or impact mechanism.

Abdominal laboratory studies. Consider obtaining the following laboratory tests in cases of suspected physical abuse, even in the absence of signs or symptoms of abdominal injuries: serum amylase, serum lipase, liver function tests, urinalysis for erythrocytes.

Abdominal imaging. An abdominal CT should be performed in suspected victims of child physical abuse with symptoms, signs, or laboratory values suggestive of abdominal injury.

Laboratory evaluation for other causes of injuries. Additional laboratory studies to evaluate for alternate diagnoses should be performed if indicated based on history and physical. In the case of infant with bruising (with or without intracranial hemorrhage), an evaluation for hematologic disorders is indicated especially if there are not additional injuries to support a diagnosis of abuse. There is not, however, consensus regarding the extent of the evaluation. To screen for common, severe coagulopathies, a CBC, PT, PTT, and thrombin time should be performed. If screening test results are normal and a bleeding disorder is suspected based on clinical presentation or family history, consultation with a hematologist and further testing for other hematologic disorders may be indicated.

Fundoscopic examination for retinal hemorrhages. Consider in any infant or young child with injuries from suspected abuse.


The injuries suffered by the child should be managed as medically indicated. A report to CPS must be made in any case in which there is a reasonable suspicion of child abuse. In all states and in the District of Columbia, physicians and nurses are included as mandatory reporters, and in many states medical providers may face penalties for failure to report suspected child physical abuse. Medical providers should be familiar with the child abuse reporting laws of their state. In this case, a report was made to CPS. Under the direction of CPS, when medically ready the child was discharged in the care of her grandparents. At follow-up in 3 months her grandparents reported that she had not had any further bruising.


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