Kalafateli M, Triantos C, Tsamandas A, Kounadis G, Labropoulou-Karatza C

Language: English
References: 20
Page: 130-133
PDF size: 127.99 Kb.

ABSTRACT

Myotonic dystrophy type 1, also known as Steinert’s disease, is a multisystemic disorder with significant genetic and clinical heterogeneity. Apart from skeletal muscles’ myotonia and wasting, a variety of system organs can be affected. We report on a 49 years old female patient with unremarkable medical and family history, who presented with elevated liver enzymes without signs or symptoms of chronic liver disease neither neurological features. Initial assessment, including liver biopsy, did not reveal the cause of these abnormalities. Eight months later, she complained for disequilibrium and eventually electromyography confirmed the diagnosis of Steinert’s disease. Steinert’s disease should be considered in the differential diagnosis of patients with elevated liver enzymes, as long as abnormal liver tests may be the initial presentation. The pathophysiological mechanism of this abnormality remains unclear.

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