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Autosomal recessive osteopetrosis: diagnosis, management, and outcome
  1. C J Wilsona,
  2. A Vellodib
  1. aMetabolic Unit, Great Ormond Street Hospital for Children, Great Ormond Street, London WC1N 3JH, UK, bBiochemistry, Endocrinology, and Metabolism Unit, Institute of Child Health, London, UK
  1. Dr Wilsoncallumjwilson{at}

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Autosomal recessive “malignant” osteopetrosis is a rare congenital disorder of bone resorption. It is caused by the failure of osteoclasts to resorb immature bone.1-3 This leads to abnormal bone marrow cavity formation and clinically to the signs and symptoms of bone marrow failure. Impaired bone remodelling causes bony narrowing of the cranial nerve foramina which results in cranial nerve, especially optic nerve, compression.2Pathologically there is a persistence of the primary spongiosa characterised by cores of calcified cartilage within bone. Abnormal remodelling of primary, woven bone to lamellar bone results in “brittle” bone that is prone to fracture.1 2 Thus fractures, visual impairment, and bone marrow failure are the classical feature of the disease.4 Osteopetrosis has been reported in most ethnic groups although as the disease is very rare it is more frequently seen in ethnic groups where consanguinity is common. Infantile onset osteopetrosis should also be distinguished from the much milder autosomal dominant adult disease and the carbonic anhydrase II deficiency syndrome which is associated with renal tubular acidosis and less severe osteopetrosis.5 6


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 …

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