Personal practice: Autosomal recessive osteopetrosis: diagnosis, management, and outcome

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Abstract
Affected children usually present within the first year of life and frequently within the first three months.4 , 7-9Parental concern regarding the child's vision is the most common presenting complaint. Failure to achieve normal visual milestones, roving eye movements, and/or squint are often reported. Other presentations include failure to thrive and recurrent infection, both secondary to the underlying anaemia and bone marrow involvement. Hypocalcaemic seizures, excessive bruising, fractures, nasal congestion, and an abnormal craniofacial appearance are less common presenting complaints.4 , 7-9 These symptoms are non-specific and while hepatosplenomegaly is invariably present at an early age this may be missed and because of the disease rarity a correct clinical diagnosis is often not initially made. Frequently it is the distinctive sclerotic bony changes seen on a serendipitously performed x ray that alerts the clinician (fig 1). If radiological appearances are supportive and the child has features of anaemia with compensatory erythropoietic hepatosplenomegaly and/or visual impairment then the diagnosis is highly likely. A skeletal survey should be performed and reviewed by an experienced paediatric radiologist to confirm the diagnosis. There are a large number of, individually rare, genetic conditions associated with osteosclerosis or osteopetrosis. Only a small number of these are associated with anaemia and visual impairment.10Dysosteosclerosis is a very rare condition which can present with a very similar phenotype to osteopetrosis. These patients are not usually anaemic however and while the initial x ray changes may be indistinguishable from osteopetrosis they later develop the characteristic irregularly coarse submetaphyseal trabecular pattern.11 , 12