A newborn twin with unusual chest radiograph

• Published in: Postgraduate medical journal Vol. 82; no. 973; p. e28
• Main Authors: Thomas, B, Elias-Jones, A C, Sridhar, A V
• Format: Journal Article
• Language: English
• Published: England The Fellowship of Postgraduate Medicine 01-11-2006; Oxford University Press; BMJ Group
• Subjects: Bone marrow; Diseases in Twins - diagnostic imaging; Families & family life; Female; Fractures; Humans; Incidental Findings; Infant, Newborn; Infant, Small for Gestational Age; Mortality; Mutation; Osteopetrosis - diagnostic imaging; Radiography; Respiration Disorders - diagnostic imaging; Self-Assessment Questions; Twins
• ISSN: 0032-5473; 1469-0756
• DOI: 10.1136/pgmj.2006.051516

The only treatment that has a noticeable favourable effect on the disease course is bone marrow transplantation. 4 Corticosteroids, high-dose calcitriol and interferon [GAMMA] have all been reported to be of variable benefit in the treatment of osteopetrosis. 6- 8 Management involves multidisciplinary supportive treatment of associated problems such as anaemia, recurrent infections, failure to thrive, hypocalcaemia, fractures and dental problems. DISCUSSION Osteopetrosis, in its autosomal recessive malignant form, is a rare congenital disorder caused by the failure of osteoclasts to resorb immature bone. 1 Mutations in several genetic loci that govern osteoclast development and function could be responsible; recently, mutations in the gene coding for an osteoclast-specific vacuolar pump have been described in a subgroup of affected children. 2 Pathologically, persistence of primary spongiosa and abnormal remodelling of bone result in "brittle" bone that is prone to fracture. 3 Classical features include bone marrow failure, consequences of bony narrowing of cranial nerve foramina and fractures. 4 Clinical presentation is commonly in the form of parental concern regarding the child's vision or as an incidental finding of distinctive sclerotic bony changes on x rays taken for another reason.