Volume 6, Case 3
Loren G. Yamamoto, MD, MPH
Kapiolani Medical Center For Women And Children
University of Hawaii John A. Burns School of Medicine
This is a 3-month old male who comes to the emergency department at 6:30 am with a chief complaint of vomiting. He has vomited 5 times since midnight. He has been ill for three days with symptoms of fever (38 degrees C), poor appetite, coughing and nasal congestion. His mother does not speak English, but a 12 year old relative has accompanied the family who translates well. He is seen in triage and is brought into the emergency department as a high priority because he appears pale with moderate retractions and he is on home oxygen delivered via nasal canula. When asked about his past medical history, his mother indicates through the translator that he has weak bones and not enough oxygen. The child's oxygen is turned up immediately before an oxygen saturation can be measured.
VS T38.1, P180, R50, oxygen saturation 100% on 5 liters of oxygen by nasal canula. He is still pale, but responsive and moving about well. He does not appear to be toxic or irritable. He is in moderate respiratory distress. His occiput is flattened. His anterior fontanelle is soft and flat. His TM's are normal. Oral mucosa moist and clear. There is modest nasal congestion. His neck is supple. Heart tachycardic without murmurs. Lungs with good aeration and wheezy breath sounds. There are moderate retractions. Abdomen soft and non-tender. No hernias are present. Perfusion and turgor are good.
An albuterol aerosol is administered with some improvement. His retractions are mild now. A chest radiograph is obtained.
View CXR-PA
View CXR-Lateral
The chest radiographs show partial atelectasis of the right upper lobe. There are multiple rib deformities (beading) with severe demineralization. Some type of severe bone disease is evident on these chest radiographs. His old charts finally arrive. His neonatal course is significant for osteogenesis imperfecta which was diagnosed on prenatal uterine ultrasound. He was delivered by C-section because of this at which time he was noted to have multiple skull, rib, vertebral and long bone fractures on skeletal survey at birth. Wormian bones were noted on the skull.
An RSV study was negative. He was admitted to the hospital for inpatient management of his respiratory condition.
View his neonatal upper and lower extremity radiographs.
View UE's
View LE's
Both his upper and lower extremities show multiple severe healing fractures (crumpling) with severe demineralization. This is much more severe than that seen in Case 2 (of Volume 6). This case represents a more severe form of osteogenesis imperfecta.
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.
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