| CASE REPORT |
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| Year : 2008 | Volume
: 56
| Issue : 3 | Page : 391--393 |
Lipid storage myopathies with unusual clinical manifestations
Megha S Uppin1, C Sundaram1, AK Meena1, Krishna Mohan Reddy2, K Krishna Reddy2, A Vanniarajan3, K Thangaraj3
1 Nizam's Institute of Medical Sciences, Hyderabad, India
2 Yashoda Hospital, Hyderabad, India
3 Center for Cellular and Molecular Biology, Hyderabad, India
Correspondence Address:
C Sundaram
Department of Pathology, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad - 500 082
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0028-3886.43460
We describe the clinical presentation, course and pathologic findings found in three adult patients with lipid storage myopathy. Excessive lipid storage was found in Type 1 fibers of muscle. Clinical improvement on oral levo-carnitine therapy suggests the possibility of carnitine deficiency as the most likely etiology in two of the patients and one had mitochondrial myopathy confirmed on genetic analysis.
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