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Year : 2003  |  Volume : 13  |  Issue : 4  |  Page : 387-388
Osteopetrosis congenita: A case report

IGMC and Mayo Hospital, Nagpur, India

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Keywords: Osteopetrosis

How to cite this article:
Phatak S V, Kolwadkar P K, Phatak M S. Osteopetrosis congenita: A case report. Indian J Radiol Imaging 2003;13:387-8

How to cite this URL:
Phatak S V, Kolwadkar P K, Phatak M S. Osteopetrosis congenita: A case report. Indian J Radiol Imaging [serial online] 2003 [cited 2021 Jan 18];13:387-8. Available from:

   Introduction Top

Osteopetrosis is rare developmental bone abnormality characterized radiologically by a generalized increase in density of the bones and failure of tubulation. It was first described by Albers-schonberg who called it marble bones and later Karshner (1926) designated it as Osteopetrosis which is the term most widely used today. [1] It is characterized by persistence of calcified cartilage. In severe cases encroachment on the marrow spaces cause severe anemia. Bone changes are due to failure of resorptive mechanisms of calcified cartilage, which interferes with its normal replacement by mature bone. Clinical features include anemia, optic atrophy, fractures, hepatosplenomegaly, and lymphadenopathy. Aplastic anemia is often present with thrombocytopenia and leukopenia. Transverse metaphyseal bands consist of immature bone alternating with bands of normal bone.[2]

   Case Report Top

One and a half year old boy presented with fever, failure to thrive, Hepatosplenomegaly and cervical lymphadenopathy. Radiograph of chest was done to rule out chest infection. On Radiograph generalized increase in bone density was noted and then a skeletal survey was done. Blood investigations revealed severe anemia.

   Discussion Top

There are three variants of Osteopetrosis

Osteopetrosis Tarda :- Inheritance is autosomal dominant, age of onset is adulthood and carries good prognosis.

Osteopetrosis congenita:- Inheritence is autosomal recessive, age of onset is infancy and prognosis is poor.

Marble bone disease:- Inheritence is autosomal recessive, age of onset is childhood and prognosis is poor. It is associated with renal tubular acidosis and intracranial calcifications.[3]

Long bones show uniformly dense shaft and under constriction of tubular bones due to lack of modeling leading to Erlenmeyer flask deformity with widening of distal diaphysis. The articular cartilage is not affected and joint space is normal. Carpal bones show a dense central nidus resembling a bone island. If the nidus is large it usually takes the general shape of the bone within which it lies. The peripheral bone is usually of normal density, this is known as bone in bone appearance. Tarsal bones also show bone in bone appearance. Hands show dense medullary island in proximal ends of phalanges and in both ends of metatarsals.[1] In pelvis characteristic feature is concentric sclerotic rings or alternating dense and translucent zones running parallal to iliac crest that resemble the growth of rings of tree. Spine show dense end plates at upper and lower border of bodies with middle third are being normal in density producing a sandwich appearance. Ribs appear uniformly dense. In skull sella show thickening of posterior clinoids and to a lesser extent anterior clinoids. In severe case there is marked thickening of floor of sella and obliteration of sinuses and mastoid air cells with narrowing of foramina of skull. Facial bones show bilateral symmetrical sclerosis of bones and obliteration of maxillary sinuses.[4],[5],[6]. Osteopetrosis is a disease with intense positive balance of body calcium. Infantile variety is often associated with rickets-a paradoxical association. The presence of rickets worsens the symptoms of Osteopetrosis.[7] Differential diagnosis of Osteopetrosis includes conditions, which produce general increase in bone density like fluorosis, myelosclerosis, Engelmann's disease, and sclerosing form of Paget's disease, melorheostosis, lymphoma and osteoblastic scancer metastasis.[1]

   References Top

1.Daniel Wilner Osteopetrosis In Radiology of bone tumors and allied disorders Philadelphia W B Saunders and company, 1982 volume 2; 1844-1851.  Back to cited text no. 1    
2.Jack edeiken, Philip J. Rhodes Osteopetrosis In: Roentgen diagnosis of diseases of bone Volume one, second edition, Asian edition The Williams and wilkins company Baltimore 1973; 196-199.  Back to cited text no. 2    
3.Jerome Carolino, Juan A, Perez, and Anca Popa Osteopetrosis Am academy of family physicians 15 March1998.  Back to cited text no. 3    
4.Grainger and Allison's diagnostic radiology: Osteopetrosis third edition Churchill Livingstone volume two 1997: 1769-1771  Back to cited text no. 4    
5.Murray RO and Jacobson HG Radiology of skeletal disorders: Osteopetrosis Churchill Livingstone London 1977.  Back to cited text no. 5    
6.Textbook of Radiology by David Sutton Osteopetrosis E & S Livingstone 1971 reprint: 13-14  Back to cited text no. 6    
7.MLKulkarni, Prakash S. Matadh Rickets in Osteopetrosis - A paradoxical association Indian Pediatrics 2003; 40:561-565.  Back to cited text no. 7    

Correspondence Address:
S V Phatak
Amarjyoti X-ray and Sonographic Clinic, Wardha Road, Dhantoli Nagpur - 440012 MS
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Source of Support: None, Conflict of Interest: None

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  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6]


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