| CASE REPORT |
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| Year : 2013 | Volume
: 3
| Issue : 2 | Page : 45-47 |
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Osteopetrosis: trephine biopsy an essential tool
Harpreet Walia1, Rohit Jain1, Rekha Nirwan1, Rajiv K Bansal2, Gajendra N Gupta1
1 Department of Pathology and Transfusion Medicine, Santokba Durlabhji Memorial Hospital, Jaipur, Rajasthan, India
2 Department of Pediatrics, Santokba Durlabhji Memorial Hospital, Jaipur, Rajasthan, India
Correspondence Address:
Rohit Jain
Department of Pathology and Transfusion Medicine, Santokba Durlabhji Memorial Hospital, Jaipur, Rajasthan
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/2230-7095.136496
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Osteopetrosis is a group of rare genetic diseases, consequent on absent or defective osteoclasts. A large number of genes have been found to be associated with the defect, each of which results in a clinically variable phenotype with regards to age at presentation and severity of disease. This makes the disease a clinical diagnostic challenge. We present one such case which was diagnosed on trephine biopsy performed to understand the cause of the presence of blast cells in peripheral blood of an 8-month-old infant. |
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