Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association
Disorders of lipid metabolism can cause variable clinical presentations, often involving skeletal muscle, alone or together with other tissues. A 19-year-old boy presented with a 2-year history of muscle pain, cramps, exercise intolerance and progressive weakness of proximal lower limbs. Examination...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2012-01-01
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| Series: | Annals of Indian Academy of Neurology |
| Subjects: | |
| Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2012;volume=15;issue=4;spage=332;epage=335;aulast=Ramakrishnan |
| _version_ | 1817991252972404736 |
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| author | Subasree Ramakrishnan Gayathri Narayanappa Rita Christopher |
| author_facet | Subasree Ramakrishnan Gayathri Narayanappa Rita Christopher |
| author_sort | Subasree Ramakrishnan |
| collection | DOAJ |
| description | Disorders of lipid metabolism can cause variable clinical presentations, often involving skeletal muscle, alone or together with other tissues. A 19-year-old boy presented with a 2-year history of muscle pain, cramps, exercise intolerance and progressive weakness of proximal lower limbs. Examination revealed skeletal markers of Marfan syndrome in the form of increased arm span compared with height, Kyphoscoliois, moderate pectus excavatum, high arched palate and wrist sign. He also had mild neck flexor weakness and proximal lower limb weakness with areflexia. Pathologic findings revealed lipid-laden fine vacuoles in the muscle fibers. Possibility of carnitine deficiency myopathy was considered and the patient was started on carnitine and Co Q. The patient made remarkable clinical improvement over the next 2 months. This case is reported for rarity of the association of clinical markers of Marfan syndrome and lipid storage myopathy and sparse literature on lipid storage myopathy in the Indian context. |
| first_indexed | 2024-04-14T01:10:51Z |
| format | Article |
| id | doaj.art-00d631c42cfa4ceb9df035da5c3ec866 |
| institution | Directory Open Access Journal |
| issn | 0972-2327 1998-3549 |
| language | English |
| last_indexed | 2024-04-14T01:10:51Z |
| publishDate | 2012-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Indian Academy of Neurology |
| spelling | doaj.art-00d631c42cfa4ceb9df035da5c3ec8662022-12-22T02:21:03ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492012-01-0115433233510.4103/0972-2327.104352Lipid storage myopathy with clinical markers of Marfan syndrome: A rare associationSubasree RamakrishnanGayathri NarayanappaRita ChristopherDisorders of lipid metabolism can cause variable clinical presentations, often involving skeletal muscle, alone or together with other tissues. A 19-year-old boy presented with a 2-year history of muscle pain, cramps, exercise intolerance and progressive weakness of proximal lower limbs. Examination revealed skeletal markers of Marfan syndrome in the form of increased arm span compared with height, Kyphoscoliois, moderate pectus excavatum, high arched palate and wrist sign. He also had mild neck flexor weakness and proximal lower limb weakness with areflexia. Pathologic findings revealed lipid-laden fine vacuoles in the muscle fibers. Possibility of carnitine deficiency myopathy was considered and the patient was started on carnitine and Co Q. The patient made remarkable clinical improvement over the next 2 months. This case is reported for rarity of the association of clinical markers of Marfan syndrome and lipid storage myopathy and sparse literature on lipid storage myopathy in the Indian context.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2012;volume=15;issue=4;spage=332;epage=335;aulast=RamakrishnanCarnitine deficiency myopathylipid storage myopathyMarfan syndromemuscle biopsyneuromuscular diseases |
| spellingShingle | Subasree Ramakrishnan Gayathri Narayanappa Rita Christopher Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association Annals of Indian Academy of Neurology Carnitine deficiency myopathy lipid storage myopathy Marfan syndrome muscle biopsy neuromuscular diseases |
| title | Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association |
| title_full | Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association |
| title_fullStr | Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association |
| title_full_unstemmed | Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association |
| title_short | Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association |
| title_sort | lipid storage myopathy with clinical markers of marfan syndrome a rare association |
| topic | Carnitine deficiency myopathy lipid storage myopathy Marfan syndrome muscle biopsy neuromuscular diseases |
| url | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2012;volume=15;issue=4;spage=332;epage=335;aulast=Ramakrishnan |
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