ABSTRACT
A 6-month-old infant boy was brought unresponsive to the emergency room of a community hospital. He was asystolic and declared dead shortly thereafter. There were obvious deformities of all four extremities (Image 104a). X-rays showed deformed, shortened extremities, some with healing fractures (Images 104b and 104c). The sclera were grey. The caretakers were equivocal as to the time when last seen alive. They stated that care was provided in a specialized paediatric clinic at another hospital system. Child Protective Services were called to interview the caretakers. An autopsy was performed. https://s3-euw1-ap-pe-df-pch-content-public-p.s3.eu-west-1.amazonaws.com/9780429170423/e1d751c1-a9c7-4bb9-9d59-53742c84031a/content/fig104a.jpg"/> 236 https://s3-euw1-ap-pe-df-pch-content-public-p.s3.eu-west-1.amazonaws.com/9780429170423/e1d751c1-a9c7-4bb9-9d59-53742c84031a/content/fig104b.jpg"/> https://s3-euw1-ap-pe-df-pch-content-public-p.s3.eu-west-1.amazonaws.com/9780429170423/e1d751c1-a9c7-4bb9-9d59-53742c84031a/content/fig104c.jpg"/>
What is the diagnosis?
What is the cause of death?
Would you report this case to Child Protective Services?237
238This infant suffered from osteogenesis imperfecta, a rare disorder characterized by a mutation in the gene encoding type 1 collagen. The main clinical manifestations are osteoporosis, brittle and easily fractured bones, blue sclerae, dentinogenesis imperfecta and hearing impairment. There are several subtypes characterized by different degrees of clinical severity, from fatal in the perinatal period due to extreme bone fragility, to a variant that allows for a normal life except for somewhat increased susceptibility to fractures. 1
There are a number of reasons why children with osteogenesis imperfecta die. 2 The more severe variants cause death due to respiratory infections and heart failure secondary to scoliosis. Pneumonia is frequent due to decreased respiratory effort that accompanies the multiple rib fractures. There are complications inherent to osteogenesis imperfecta, such as basilar invagination of the skull (projection of the tip of the odontoid process into the foramen magnum) that can also cause death. In this particular case, the variant was of the severe, progressive deforming type, with multiple fractures in the trunk and extremities. Pneumonia was present on autopsy.
In this case, it was apparent from the appearance of the child that, in spite of the parent’s educational limitations, the child was as well cared for as one could expect. He was clean, reasonably well nourished and there was no diaper/nappy rash. It was easy to discern that progressive, fatal congenital disease was present. Discrepancies in the parent’s stories were resolved and the medical records obtained from the medical centre where this child was routinely seen clarified the story. This is not always the case, especially with the more common variants that survive into adulthood but are more prone to fractures in childhood. 3 To a great extent, the decision to involve other authorities depends on the knowledge and experience of the nurses and physicians who see children like this, because child abuse can also happen to severely incapacitated children.
