Volume 6, Case 2
Loren G. Yamamoto, MD, MPH
Kapiolani Medical Center For Women And Children
University of Hawaii John A. Burns School of Medicine
A 2-month old male infant is brought to the emergency department at 10:30 pm with a chief complaint of crying and fussiness. His parents noted this since 9:00 pm when they returned home from shopping. His mother was carrying him in a padded fabric infant carrier over the front of her body. His mother was carrying a light weight cardboard box as she opened the door to their home. When she turned on the house lights, he let out a scream and continued to cry inconsolably for a while. Initially, his parents thought that the light awoke him from a nap, although his crying seemed excessive. Their next thought was that his arm got caught in one of the straps of the infant carrier. It was dark when they came through the door so his parents are not sure if his arm was caught anywhere. Although he has calmed down since the incident, he still seems to be very irritable and uncomfortable. He feeds well, but he is intermittently very fussy. There is no history of fever, vomiting or cold symptoms. Prior to 9:00 pm, he seemed to be fine. He passed two normal stools earlier in the day. His past history is unremarkable.
Exam: VS T36.9.(tympanic), P110, R40, oxygen saturation 100% in room air. He is alert and interactive, in no distress. He is not toxic appearing. He is not crying and does not appear to be irritable when bounced. During various aspects of the exam, he is crying intermittently, but this appears to be a normal reaction to an examiner. Anterior fontanelle is soft and flat. Head without swelling or tenderness. Neck supple. Heart regular without murmurs. Lungs clear. Abdomen soft and non-tender. No hernias are present. His testes and penis are normal. Clavicles are non-tender. His back is non-tender. Hip range of motion is good. There is no consistent reaction when palpating his upper and lower extremities. His digits and penis are examined for hair tourniquets and none are found. Perfusion and color are good.
His parents' concern appears to be sincere, but nothing is found on exam and his fussiness and crying seem to have resolved. His parents are told that his condition appears to be benign and perhaps he was having some abdominal cramps. The emergency department is very busy. His parents are told to wait in their assigned room for a 30 minute observation period after which, the physician would return for a reassessment.
A later reassessment finds the patient to be active and alert, but his parents state that he still has occasional episodes of unusual crying. The possibilities of constipation and intussusception are discussed. There are no episodes of unusual crying witnessed. His parents are asked to report any crying to the nurses. An additional one hour observation period is planned.
An hour later, the patient volume in the emergency department subsides. His parents indicate that they fed him about 2 ounces, but he did not seem to feed with his normal vigor. He is now asleep while mother carries him. His abdomen is soft and non-tender. His parents are instructed to check his abdomen periodically since appendicitis may be a possible cause of his symptoms. His upper extremities are palpated and then his lower extremities are palpated. This time, crepitus is felt in his left thigh and the infant awoke crying. Radiographs of the left lower extremity are ordered.
View radiographs.
These radiographs show an angulated fracture through the mid femur.
View a different lateral view.
This view better delineates the oblique spiral nature of the fracture. From this view, it can be appreciated that this is a substantial fracture. Is the history of this injury consistent with these radiographic findings?
Since this is a femur fracture, there should be a history of substantial trauma. This history is lacking in this case. The parents are confronted with the child's radiographs. They are asked if there is any other possible injury that they have neglected to tell the physician. They cannot recall any other possible trauma. His mother now believes that the door may have hit the box she was carrying at the time and this box might have hit him in the leg. She is told that such an injury would require a force greater than this. Another possibility is that he received several immunizations in his thighs at his pediatrician's office three days ago, but he did not seem to be in any pain until tonight.
The family is informed that this case needs to be reported to child protective authorities. Should parents always be informed that a report to child protective authorities is about to be made? Is there an easy way to inform parents of this?
In most instances, it is advisable to inform parents whenever a report to the child protective authorities is made. This is because they may be very unhappy when they find out that such a report has been made. If they are upset enough, they will be able to find out who made the report and they may possibly retaliate in some way. An easy way to inform parents that a report is about to be made is to inform them in a very non-judgemental and non-personal way. Put the radiograph with the femur fracture on the viewbox and while pointing to the fracture, inform them that there is a government law that requires us to report this type of injury to the child protective authorities. I, as a physician, have no choice in the matter. Whenever this type of injury occurs, it must be reported. The child protective authorities will be contacting you. Just tell them what happened.
In ten years of using this approach, I have never encountered a reaction that resulted in excessive anger or violence. This approach is non-judgemental because it does not accuse anyone of causing the injury. Parents perceive that it is the radiograph that is being reported and not them personally. Likewise, if a child comes in with multiple bruises and burns due to a history that is not plausible, parents should be informed that the government laws require that "these types of injuries" (while pointing to the injuries) need to be reported to child protective authorities. Parents perceive that the injuries are being reported and not them personally. This is true in many ways because, the actual perpetrator cannot usually be determined with certainty during the initial medical encounter.
Getting back to our 2 month old with the femur fracture. An orthopedic surgeon was consulted. A closed reduction was performed and a femur splint was applied. The child's private physician was notified and he indicated that he could not believe that these parents were potentially abusive. The emergency physician and the orthopedic surgeon both agreed that the manner in which these parents conducted themselves was inconsistent with child abuse. Child protective authorities were contacted and they agreed to have the infant discharged from the emergency department for outpatient orthopedic follow-up.
At orthopedic follow-up the next day, a skeletal survey was performed.
View upper extremity radiographs.
Note that the earlier lower extremity radiographs did not show any evidence of obvious demineralization or cysts. Similarly, his upper extremity radiographs appear to be of normal density radiographically. No other fractures were identified on the complete skeletal survey. However, the radiologist noted the possibility of Wormian bones on the views of the skull. The radiologist also felt that the long bones were slightly demineralized. The Wormian bone findings were very subtle so they are not included here for display. The possibility of Wormian bones raised the possibility of osteogenesis imperfecta. A geneticist was consulted.
By this time, child protective authorities had investigated the home and the parents. They concluded that the likelihood of child abuse was low if there could be a medical explanation for the injury.
A detailed family history done by the geneticist revealed a family history of multiple fractures, malformations, scoliosis and "bow legs." No one in the family has ever been diagnosed with any congenital or chronic bone conditions. His parents are unrelated. His mother and maternal aunt both have scoliosis. His mother fractured her ankle once. The father is healthy, but his father (our patient's paternal grandfather) fractured his lower extremity twice and on one occasion, this occurred during "horseplay".
At this point, the geneticist felt that the infant had osteogenesis imperfecta type I or type IV. Genetic studies were sent to a specialized reference lab for confirmation.
There are four types of osteogenesis imperfecta (OI). Type I is characterized by osteoporosis and excessive bone fragility, blue sclerae and hearing loss in adolescents and young adults. This is the most common form of osteogenesis imperfecta with an incidence of about 1 in 30,000 live births. Inheritance is autosomal dominant. Minimal trauma may result in fractures. About 10% of infants have fractures at birth. Bow legs, flat feet, kyphosis and scoliosis are commonly seen with OI. A variant of OI type I is associated with dentinogenesis imperfecta (yellow or blue-gray translucent teeth which frequently erode or break prematurely). Radiographs show generalized osteopenia and healing fractures. Skin fibroblasts from patients show a reduction of type I procollagen synthesis.
Type II osteogenesis imperfecta is a lethal form characterized by low birthweight, severe osteopenia, crumpled long bones and multiple rib deformities (beaded ribs). Most cases are new mutations, but some are autosomal recessive occurring in 1 in 60,000 live births. 50% are stillborn and the remainder eventually succumb to respiratory failure due to the skeletal defects of the chest. The skull is soft and the limbs are short. The skin is fragile as well. Type I collagen (the main collagen of bone) synthesis is defective.
Type III osteogenesis imperfecta manifests in the newborn or infant with multiple fractures due to severe bony fragility. The sclerae may be blue at birth and become less blue with age. Inheritance is autosomal recessive with clinical variability in severity. Very few patients reach adulthood. Children sustain multiple fractures and progressive kyphoscoliosis. The skull is soft and deformed. Most patients succumb to cardiorespiratory complications in infancy or childhood.
Type IV osteogenesis imperfecta is characterized by osteoporosis leading to bone fragility of variable severity. Inheritance is autosomal dominant. The sclerae may be bluish at birth, but this becomes less prominent as the patient ages. Because of variable severity, some patients sustain their first fractures in infancy, while others sustain their first fractures as adults. There are variable degrees of bow legs, scoliosis and short stature. Many patients show spontaneous improvement with age. This form of OI may be occult. Radiographs may demonstrate osteopenia, but this is not as severe as in other forms of OI.
It appears that our patient fits best with OI type IV.
References: