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Thakur, Amit
- Alkaptonuric Ochronosis: a Case Report
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Authors
Affiliations
1 Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, IN
2 Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, IS
1 Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, IN
2 Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, IS
Source
Indian Journal of Forensic Medicine & Toxicology, Vol 6, No 2 (2012), Pagination: 10-12Abstract
A fifty year old female presented with bluish black discoloration of body tissues and low backache. There was visible bluish black dislocation of sclera and pinna. Patient had extensive involvement of spine with degenerative changes in knee joint.Keywords
Bluish Black Discoloration, Sclera, Pinna
References
- Vijai Kumar M, Thappa DM, Srikanth S, Sethuraman G, Nadarajan S. Alkaptonuric ochronosis presenting as palmoplantar pigmentation. Clin Exp Dermatol 2000; 25[4]: 305-307.
- Shetty B.S.S. and Jayaprakash M.R. Alkaptonuria and ochronotic arthritis. Ind J Orthopaedics.1980; 14[2] : 231-232.
- Gulati A.K. Alkaptonuric arthritis- a case report. Ind J Orthopaedics 1986 ; 20[1] : 63-65.
- Kocyigit H, Gurgan A ,Terzioglu R, Gurgan U. Clinical, radiographic and echocardiographic findings in a patient with ochronosis. Clin Rhematol 1998; 17[5] : 403-406.
- Stiehl P, Klinger K M. Joint effusion findings in alkaptonuric arthropathy[ ochronosis]. J Rheumatol 1994 ; 53[3]: 150-154.
- Verma SB. Early detection of alkaptonuria. Indian J Dermatol Venerol Leprol 2005; 71: 189-191.
- Mishra V, Ranganath LR. Pigmented sclera: a diagnostic challenge. Post Grad Med J 2004; 480: 491.
- Van Offel JF, De Clerck LS, Francx IM, Stevens WJ. The clinical manifestations of ochronosis : a review. Acta clin Belg 1995; 50 : 358-362.
- Mannoni A et. al. Alkaptonuria, ochronosis and ochronotic arthropathy. Semin Arthritis Rheum 2004; 33 : 239-248.
- Camurati Engelmann’s Disease (CED): A Case Report
Abstract Views :206 |
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Authors
Affiliations
1 G.G.S.Medical College & Hospital (BFUHS) Faridkot, Punjab, IN
2 Maharaja Agrasen Medical College, Agroha, Hisar, IN
1 G.G.S.Medical College & Hospital (BFUHS) Faridkot, Punjab, IN
2 Maharaja Agrasen Medical College, Agroha, Hisar, IN
Source
Indian Journal of Forensic Medicine & Toxicology, Vol 5, No 1 (2011), Pagination: 103-105Abstract
Camurati Engelmann's disease is rare and is characterized by severe limb pain, proximal muscle weakness and hyperostosis of long bones and the skull. We report a case of Camurati Engelmann's disease with decreased muscle mass and weakness. There was increased lumbar lordosis, calcaneovalgus of both feet and enlargement of shafts of femur and tibia. Diagnosis was established on X-rays which showed hyperostosis of both femur and tibia and sclerosis of skull bones. The child was put on corticosteroids and analgesics and there was alleviation of symptoms after two follow-ups.Keywords
Camurati-engelmann’s Disease, Lumbar Lordosis, Hyperostosis, Corticosteroids.References
- Clawson DK, Loop JW. Progressive diaphyseal dysplasia (Engelmann’s disease). J Bone Joint Surg 1964; 46A: 143- 150.
- Kinoshita, Saito, Tomita et al. Domain specific mutations in TGFb1 result in Camurati-Engelmann’s disease. Nature Genet 200; 26: 19-20.
- Lennon EA, Schechter MM, Homabrook RW. Engelmann’s disease. Report of a case with review of the literature. J Bone Joint Surg 1961; 43B: 273-284.
- Wilson FC, Hundley JD. Progressive diaphyseal dysplasia. Review of the literature and report of seven cases in one family. J Bone Joint Surg 1973; 55: 461-474.
- Yoshudia H, Mimo A, Kiyosawa N. Muscular changes in Engelmann’s disease. Arch Dis Child 1980; 55: 716-719.
- Ribbing S. Hereditary, multiple, diaphyseal sclerosis. Acta Radiol 1949; 31: 522-536.
- Crisp AJ, Brenton DP. Engelmann’s disease of bone – A systemic disorder? Ann Rheu Dis 1982; 41: 183-188.
- Gird any BR. Engelmann’s disease (progressive diaphyseal dysplasia) – A non-progressive familial form of muscular dystrophy with characteristic bone changes. Clin Orthop 1959; 14: 102-109.
- Seeger LL, Hewel KC, Yao L et al. Ribbling disease (multiple diaphyseal sclerosis): Imaging and differential diagnosis. Am J Roentgon 1996; 167: 689-694.
- Minford AMB, Hardy GJ, Forsythe WI, Fitton JM, Rowe VL. Engelmann’s disease and the effect of corticosteroids: A case report. J Bone Joint Surg 1981; 63B: 597-600.
- Gray AC, Wallace R, Crowe M. Engelmann’s disease: A 45-year follow-up. J Bone Joint Surg 1996; 78B: 488-491.