ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2011) 26 P632

Diagnosis of Bruns-Garland syndrome in a patient with McArdle disease and type 2 diabetes mellitus

Raquel Martins1,2, Celestino Neves2,3, Manuel Vaz-da-Silva2,3, Pedro Rodrigues2,3, Sandra Belo2,3, Georgina Jorge3, Ângela Magalhães2,3, José Luís Castedo2,3 & Davide Carvalho2,3

1Portuguese Institute of Oncology of Porto, Porto, Portugal; 2Faculty of Medicine, University of Porto, Porto, Portugal; 3São João Hospital, Porto, Portugal.

Introduction: McArdle disease is a rare recessive disorder of glycogen metabolism, related to muscle phosphorylase deficiency. It usually presents in adolescence or early adulthood with muscle cramps, exercise intolerance, easy fatigability, and progressive weakness as glycogen is the primary source of energy for intense muscle activity. Few reports described the association of McArdle disease and type 2 diabetes and some authors suggested that hyperglicemia and hyperinsulinemia may improve muscle symptoms. In fact, sucrose ingestion before exercise is one of the proposed treatments for this disease.

Clinical case: A 69-year-old caucasian male with previous medical history of insulin-treated type 2 diabetes mellitus (diagnosed 30 years before), McArdle disease (diagnosed 15 years before, by muscle biopsy) and colon carcinoma (6 years before, treated with surgery and chemotherapy, without evidence of recurrence) presented with severe pain and weakness in left lower extremity (during last 4 months) and weight loss. Previously, he did routine moderate exercise, without symptoms. On physical examination, he had proximal muscular athophy (more in anterior compartment of left thigh), very reduced reflexes (more in left limb), and a small antero-lateral area of hypoesthesia in left thigh. HbA1c was 9.4%. Electromyography revealed a sensitive and motor polyradiculoneuropathy (with predominantly lombar expression) compatible with the diagnosis of Bruns–Garland syndrome. Patient was submitted to symptomatic treatment (gabapentin and duloxetine), physiotherapy and glycemic control optimization.

Discussion: In this patient with simultaneous miopathy and neuropathy predisposing disease, this clinical presentation originated a challenging differential diagnosis. Bruns–Garland syndrome is a rare complication of diabetes and more frequent in patients under good metabolic control. Another relevant point is related to the eventual contribution of hyperglicemia to McArdle disease absence of symptoms. This fact may be taken into account in deciding glycemic treatment goals in this patient with long duration diabetes.

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