Abstract
Background: Lipid storage diseases are presenting as exercise intolerance or muscle weakness, sometimes accompanied by with systemic symptoms. These disorders develop due to deficient of lipid metabolism and characterised by the accumulation of abnormal amounts of neutral fat in muscle fibres. Case reports: A 24 year-old man applied to our clinic complaining of weakness while walking and severe pain. Increase of creatin kinase, myoglobinuri, myogenic changes in EMG, lipid storage in muscle biopsy, elevated liver enzyme and hepatomegaly were determined. These symptoms were found harmonious neutral lipid storage disease with myopathy. Purpose: We discussed this very rarely seen case with literature. Key words: Lipid, Myopathy, Creatin Kinase, Hepatomegaly
Keywords
References
- Tunçbay T, Tunçbay E. Lipit depo miyopatileri ve yağ asit oksidasyon bozuklukları. Nöromüsküler Hastalıklar 2004; 535.
- G Slavin, E J Wills, J E Richmond, I Chanarin, T Andrews, and G Stewart Morphological features in a neutral lipid storage disease. SJ Clin Pathol. 1975 September; 28(9): 701–10
- Engel WK, Vick NA Glueck CJ, Levy RI: A skeletal muscle disorder associated with intermittant symptoms and a possible defect of lipid metabolism .N Engl J Med 282:607,1970.
- Barnes FRJ, Hilton Jones D, Dalakas MC, Palace JA, Rose MR. Myopathy in clinical practice 2003; 122.
- Bradly WG, Hudgson P, Gardner-Medwin D, Walton JN. Myopathy associated with abnormal lipid metabolism in sceletal muscle. Lancet 1969:495-8.
- Johnson MA, Fulthorpe JJ, Lipid storage myopathy: A recognizable clinicopathological entity? Acta Neuropathologica Volume 24, Number 2 / June, 1973.
- Musumeci S, D’Agato A, Patane C. R.R, Neri D. C. G, Reynolds F. Ichthyosis and neutral lipit storage disease Carpenter S.Pathology of Skeletal muscle, New York: Oxford University Press,2001:448-53
- Ficher J, Lefevre C, Morava E, Mussin J M, Lajore TP, Negre_Salvayre A,Lathrop M, Salvayre R. The gene encoding adipose trigliseride lipase (PNPLA2) is mutated in neutral lipit storage disease with myopathy. Nature Genet.39:28-30,2007
- Engel AG, Armstrong FC. Disorders of lipid metabolism. Third edition Vol 2 , Myology 2004; 1612.
- Javian D and Colombo R; Improved cytochemical method for detecting Jourdans bodies in neutral lipit storage diseases Journal of Clinical Pathology 2007;60:956-8
- Judge M.R, Atherton D.J, Salvayre R, Hilaire N, Levade T, Johnston D.I, Winchester,B.D. Neutral lipid storage disease case report and lipid studies, British Journal of Dermatology. 1994; 130(4):507-10.
- Donato S, Karpati G (ed).Defect of fatty acids metabolism. Structural and molecular basis of skeletal musle disease. 2nd ed. Vol 2 Lawrence:Allen Press, Inc,2002;189-201.
Abstract
Bilimsel zemin:Lipid depo myopatileri nadir rastlanılan, kas liflerinde nötral yağların birikiminin kas güçsüzlüğüne yol açtığı bir hastalıktır. Lipid depo hastalıkları egzersiz intoleransı veya kas zaafı ve bazen de eşlik eden sistemik bulgularla ortaya çıkabilir. Lipit metabolizmasındaki enzimatik defektler sonucu oluşmaktadır. Olgu: 24 yaşındaki hastamız, 6 yıldır devam eden halsizlik, yürürken güçsüzlük , şiddetli ağrı yakınmaları ile kliniğimize başvurdu. Kreatin kinaz yüksekliği, myoglobinüri, EMG' de myojenik değişiklikler, kas biyopsisinde lipit birikimleri, karaciğer enzim yüksekliği ve hepatomegali saptandı. Bu bulgular myopatili nötral lipid depo hastalığı ile uyumlu bulundu. Sonuç: Çok nadir görülen bu vakayı literatür eşliğinde tartıştık. Anahtar kelimeler: Lipid, Myopati, Kreatin Kinaz, Hepatomegali
Keywords
References
- Tunçbay T, Tunçbay E. Lipit depo miyopatileri ve yağ asit oksidasyon bozuklukları. Nöromüsküler Hastalıklar 2004; 535.
- G Slavin, E J Wills, J E Richmond, I Chanarin, T Andrews, and G Stewart Morphological features in a neutral lipid storage disease. SJ Clin Pathol. 1975 September; 28(9): 701–10
- Engel WK, Vick NA Glueck CJ, Levy RI: A skeletal muscle disorder associated with intermittant symptoms and a possible defect of lipid metabolism .N Engl J Med 282:607,1970.
- Barnes FRJ, Hilton Jones D, Dalakas MC, Palace JA, Rose MR. Myopathy in clinical practice 2003; 122.
- Bradly WG, Hudgson P, Gardner-Medwin D, Walton JN. Myopathy associated with abnormal lipid metabolism in sceletal muscle. Lancet 1969:495-8.
- Johnson MA, Fulthorpe JJ, Lipid storage myopathy: A recognizable clinicopathological entity? Acta Neuropathologica Volume 24, Number 2 / June, 1973.
- Musumeci S, D’Agato A, Patane C. R.R, Neri D. C. G, Reynolds F. Ichthyosis and neutral lipit storage disease Carpenter S.Pathology of Skeletal muscle, New York: Oxford University Press,2001:448-53
- Ficher J, Lefevre C, Morava E, Mussin J M, Lajore TP, Negre_Salvayre A,Lathrop M, Salvayre R. The gene encoding adipose trigliseride lipase (PNPLA2) is mutated in neutral lipit storage disease with myopathy. Nature Genet.39:28-30,2007
- Engel AG, Armstrong FC. Disorders of lipid metabolism. Third edition Vol 2 , Myology 2004; 1612.
- Javian D and Colombo R; Improved cytochemical method for detecting Jourdans bodies in neutral lipit storage diseases Journal of Clinical Pathology 2007;60:956-8
- Judge M.R, Atherton D.J, Salvayre R, Hilaire N, Levade T, Johnston D.I, Winchester,B.D. Neutral lipid storage disease case report and lipid studies, British Journal of Dermatology. 1994; 130(4):507-10.
- Donato S, Karpati G (ed).Defect of fatty acids metabolism. Structural and molecular basis of skeletal musle disease. 2nd ed. Vol 2 Lawrence:Allen Press, Inc,2002;189-201.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Articles |
| Authors | |
| Publication Date | April 1, 2009 |
| Published in Issue | Year 2009 Volume: 16 Issue: 2 |