Osteogenesis imperfecta: the distinction from child abuse and the recognition of a variant form.
Dan Sullivan
Osteogenesis imperfecta: the distinction from child abuse and the
recognition of a variant form.
Paterson CR, Burns J, McAllion SJ.
Department of Biochemical Medicine, University of Dundee, Scotland.
Unexplained fractures are characteristic of both osteogenesis imperfecta
(OI) and non-accidental injury (NAI) but in most cases the diagnosis is
straightforward. However, in a few OI patients an initial diagnosis of NAI
is made. Factors contributing to such difficulties include failure to
recognise that OI can occur without a family history, without blue sclerae,
without osteopenia, without an excess of Wormian bones, or with metaphyseal
fractures. In addition we report on 39 patients with an unusual history in
that fractures only occurred in the first year of life.
------------
TBBD
------------
Rib fractures, metaphyseal abnormalities and periosteal reactions were
common. The initial diagnosis was usually OI if the fractures occurred in
hospital, but NAI if they appeared to have been sustained at home.
------------
Fxs at hospital--- OI.
Fxs at home--- non-accidental.
-------------
Additional findings such as anaemia, vomiting, hepatomegaly, and apnoeic
attacks were often found in these patients. The disorder has some
similarities to the syndrome of infantile copper deficiency. Like the latter
it is particularly common in preterm infants and in twins. Therefore, we are
attempting to examine the incidence of significant hypocupraemia in
unselected preterm infants. We suggest that the likely cause of this
"temporary brittle bone disease" is a temporary deficiency of an enzyme,
perhaps a metalloenzyme, involved in the post-translational processing of
collagen.