Beril DÖNMEZ1, Hatice TAŞLI2, Yeşim PARMAN2, Feza DEYMEER2, Piraye SERDAROĞLU2

1Dokuz Eylül Üniversitesi Tıp Fakültesi Nöroloji Anabilim Dalı, İZMİR. [email protected]
2İstanbul Üniversitesi İstanbul Tıp Fakültesi Nöroloji Anabilim Dalı, İSTANBUL

Keywords: muscle biopsy, lysosomal type glycogen storage disorders, acid maltase deficiency.

Abstract

Background: Lysosomal glycogen storage disorders are rare but c!inically severe genetic disarders. The most comman form is type ll, also known as acid maltase deficiency. It has an autosomal recessive inheritance and infantile, juvenile and adult forms have been reparted.Objective: To evaluate relatianships between the clinical and laboratory findings in 15 patients with lysosomal glycagen starage diseases.Methods: Creatine kinase, Electramyografi, muscle biopsy.Findings: There were 5 infantile, 10 juvenile type patients . Creatine kinase levels were high in all patients with infantile and in 8 patients out of 9 with the other types. EMG studies demonstrated myotonic discharges, anterior horn findings and pathalogical spontan activities, in addition to the typical miyogenic findings. Most prominent finding of all muscle biopsies was vacualization of muscle fibers.Conclusion: In patients with lower extremity weakness, highly elevated CK levels; pathalogical spantan activity and mytonic discharges without clinical myotonic syndrome, diagnosis of acid maltase deficiency should be considered.