Neutral Lipid Storage Disease with Myopathy: Case Report

Öz

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

Anahtar Kelimeler

• Lipid, Myopathy, Creatin Kinase, Hepatomegaly

Myopatili Nötral Lipit Depo Hastalığı Olgu Sunumu

Öz

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

Anahtar Kelimeler

• Lipid, Myopati, Kreatin Kinaz, Hepatomegali

Kaynakça

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