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

CASE 2-6

Twenty-Month-Old Boy




A 20-month-old boy was brought to the emergency department with decreased activity level. He had been vomiting for the previous 3 days with two or three episodes of nonbloody, nonbilious emesis per day. On the day of presentation, he had been acting listless all day and appeared pale to the family. There was no reported diarrhea. He had just recovered from hand-foot-mouth disease one week prior to developing these symptoms. The family denied any trauma or ingestions. There was no reported fever, rhinorrhea, or cough.


The patient had an elevated lead level (31 μg/dL; normal <5 μg/dL) one month prior to this presentation. His medical history was otherwise unremarkable. He had not undergone any surgical procedures. He was not taking any medications, was not allergic to any medications, and his immunization status was up to date.


T 37.0°C; HR 75 bpm; RR 27/min; BP 100/68 mmHg

Weight 10th percentile; Height 50th percentile

On examination, he was somnolent but arousable. He fell asleep as soon as he was no longer being stimulated. His head was normocephalic and atraumatic. His tympanic membranes were pearly gray bilaterally, without hemotympanum. His mucous membranes were moist. His neck was supple, and there was full range of motion. His lung and cardiac examinations were normal. His abdomen was soft. There was no abdominal tenderness, masses, or organomegaly. His extremities were warm and well perfused. His neurologic examination revealed a Glasgow coma score of 13 but was otherwise normal.


A complete blood count revealed 12 100 WBCs/mm3 (86% segmented neutrophils, 9% lymphocytes, and 5% monocytes). Hemoglobin was 11.4 g/dL, and the platelet count was 851 000/mm3. Samples were sent for a serum lead level determination. Serum electrolytes and transaminases were normal. A lumbar puncture revealed WBCs, 4/mm3; RBCs, 4365/mm3; glucose, 82 mg/dL; and protein, 31 mg/dL. A urine toxicology screen was negative. Additional laboratory evaluation revealed a PT of 13.0 seconds (reference range, 10-12 seconds) and a PTT of 36.6 seconds (reference range, 30-45 seconds).


The child was hospitalized. During the next several days, he awakened and began to act normally. A head MRI performed at the time of admission suggested the diagnosis (Figure 2-5).



FIGURE 2-5. Head magnetic resonance images. A. Coronal view. B. Axial view.



Several diagnoses are possible for this child. Given the recent history of elevated lead levels, lead encephalopathy is a possibility. However, the presence of RBCs in the CSF and the expansion of the dural space on head MRI are suggestive of intracranial hemorrhage, which is not characteristic of lead encephalopathy. Causes of intracranial bleeding must be considered. Head trauma, both accidental (e.g., motor vehicle accidents, substantial falls) and nonaccidental, are the most common causes of intracranial hemorrhage in children. Other causes include vascular abnormalities, such as arteriovenous malformations (AVMs), cavernous angiomas, and aneurysms, hematologic disorders such as von Willebrand disease, factor deficiencies, and thrombocytopenia, brain tumors, arachnoid cysts, cerebral infections, metabolic disorders such as glutaric aciduria and galactosemia, and hypernatremia.

Extradural, subdural, and subarachnoid hemorrhage are commonly due to trauma, whereas intraparenchymal hemorrhage is most commonly the result of vascular anomaly, hematologic abnormality, or brain malignancy.


The serum lead level was normal. Head MRI revealed extensive left subdural hemorrhage that extended over the frontal convexity, down to the temporal lobe, and posteriorly to the occipital lobe (Figures 2-5A and B). Dilated retinal examination performed by an ophthalmologist revealed multiple bilateral retinal hemorrhages. No fractures, either new or healing, were detected on radiographic skeletal survey (radiographs of all bones in his body). The final diagnosis was child abuse. Social services were involved and determined that a relative who lived in the house had caused the nonaccidental trauma in this child.


The recognition of child abuse is difficult and requires a high index of suspicion. The exact incidence of child abuse is not known, but it is more common than many may think. In 2007, homicide was the third leading cause of death in children age 1 to 4 years, with as many as 2500 children of all ages dying annually from inflicted injuries. Fortunately, from the early 1990 to 2009, there was a substantial decrease in physical and sexual abuse cases substantiated by child protective services. Nevertheless, child abuse remains a major problem in the United States of America, with an estimated 3.3 million reports and as many as 763 000 substantiated cases of child abuse in 2009 alone. Health-care providers play an essential role in the identification and reporting of suspected abuse, and in 2010, the American Board of Pediatrics designated a board certified specialty in child abuse pediatrics.


The presentation of child abuse varies according to the type of injury inflicted on the child, and medical personnel should be alert to any sign that may indicate abuse. The child may have been the victim of a one-time abuse or multiple previous episodes of abuse. It is estimated that an abused child has a 50% chance of further abuse. The abuse may be physical, sexual, emotional, or neglect. Physical abuse represents only 25% of the abuse cases in the United States. Victims of physical abuse may present with marks and bruises on the body, change in mental status, intracranial hemorrhage, or full arrest. In up to 40% of cases of abusive head injury, the child presents with no external signs of injury. The perpetrator may not have intended to harm the child, but may have over disciplined or punished the child, resulting in abuse.

Risk factors that place a child at increased risk for abuse include parental/caretaker factors, child factors, and situational factors. Caretaker factors that increase the risk of abuse occurring include caretakers who are not prepared to perform their role, have unrealistic expectations of the child, have a poor role model, use corporal punishment, have inconsistent discipline skills, have an unsupportive partner, have psychologic issue such as impulse disorder or depression, have been victims of abuse themselves, have a substance abuse problem, or who are not directly related to the child. Children who are handicapped, have developmental delays, or have behavioral problems are at increased risk. Sixty-seven percent of abused children are under 1 year of age and 80% are under 3 years of age. Economic difficulties, poor housing, crowding, illness, and unemployment are situations that increase the likelihood of abuse. Injuries that have occurred without any history, inconsistent histories, “magical” injuries, injuries that present with a delay in seeking care, and injuries that are inconsistent with the child’s developmental age are concerning for abuse. Physical examination findings concerning for abuse include patterned marks (e.g., cigarette lighter burns, belt buckle bruises, immersion burns), multiple injuries, injuries at different stages of healing, and unexplained injuries. Figure 2-6 demonstrates retropharyngeal air secondary to inflicted trauma to the oropharynx. An accompanying liver laceration increased the suspicion of abuse in this patient.


FIGURE 2-6. Lateral neck film demonstrating retropharyngeal air in a case of nonaccidental injury. The presumed mechanism was penetrating injury with a caregiver’s finger. The infant also had a liver laceration identified on abdominal CT.

It is important to be able to determine what constitutes abuse and what does not. Being able to differentiate osteogenesis imperfecta from fractures due to child abuse, Mongolian spots from bruising, and ecthyma from a cigarette burn are important skills that health-care professionals should learn. Of note, one study found that 70% of parents of children with osteogenesis imperfecta experienced temporary loss of custody of their children for suspected child abuse. Bruising is the most common type of injury in physical abuse. However, normal bruising is common in children over 1 year of age and is typically on the lower extremities, not associated with petechiae, purpura, or mucosal bleeding. Suspicious sites of bruising include the butttocks, trunk, genitals, ears, back of hands, and neck. Nevertheless, it is often difficult to determine which injuries were sustained accidentally and which were subsequent to nonaccidental trauma. When in doubt, a social services report should be filed.


There are a few studies that are frequently obtained on children who are suspected of being abused.

Radiographic skeletal survey. Radiographic skeletal survey (X-ray of all the bones in the child’s body) is indicated in children under the age of 2 years. In patients with a high index of suspicion for abuse but a negative skeletal survey, a repeat skeletal survey should be performed after 2 weeks.

Radionuclide bone scan. A bone scan may also be helpful in detecting fractures that did not show up on the skeletal survey.

Dilated retinal examination. An ophthalmology consult is frequently helpful in detecting retinal hemorrhages.

Other studies. Laboratory studies are often indicated as well. A complete blood count and prothrombin and partial thromboplastin times should be obtained if the child presents with bruising. Liver function tests with amylase and lipase should be obtained if abdominal injury is suspected. Screening the urine and stool for blood is appropriate for abdominal trauma. Urinalysis may also be important for the detection of myoglobin if muscle injury has occurred. Screening for sexually transmitted diseases and semen may be appropriate if a child presents within 24 to 72 hours of a sexual assault. Toxicologic test are indicated if the child presents with altered mental status. Head CT or MRI may be indicated if the child has a large head or if there is reason to suspect intracranial injury; acute or chronic subdural hemorrhages may be identified. Testing for osteogenesis imperfecta should also be considered if fractures are a major component of the suspected abuse.


The approach to the abused child is to first treat the medical emergencies. Anyone involved in the care of a child is a mandated reporter of suspected child abuse. It is not the job of the medical team to prove abuse and then report, but rather to report suspected abuse and allow the social services to perform further investigations. Occasionally, the physical examination findings alone are sufficient to trigger a social services report to be filed. Other times, it is the cumulative effect of the history, physical examination, laboratory results, and caretaker interactions that trigger the filing of a report. If the child is not safe to be discharged, hospitalization is warranted.


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