Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2012  |  Volume : 15  |  Issue : 4  |  Page : 332-335

Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association


1 Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India
2 Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India
3 Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bangalore, India

Correspondence Address:
Subasree Ramakrishnan
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore - 560 029
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.104352

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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.


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