An 18 years old boy visited the out-clinic with weight loss and progressively increasing weakness for the past eleven years. He further complained to experience episodes of suffocation and palpitations. His family history was remarkable for similar illnesses and diabetic Mellitus. All of them passed away at ages between 20 and 25 years. He also gave the H/o consanguineous marriages in the family. He was pale, thin-looking on general examination, with uniformly decreased muscle mass.
His jugular venous pressure was increased, but there was no pedal oedema. In addition, his abdominal, respiratory and cardiovascular examinations were unremarkable, except a loud second heart sound was heard at the cardiac apex. Blood investigations revealed increased serum aminotransferase and aldolase, creatine-phospho-kinase and LDH levels.
His electrocardiogram revealed left ventricular hypertrophy by voltage criteria, as shown in Figure. The Chest X-Ray was standard except for showing scoliotic deformity of the dorsal spine. The EMG/NC study showed a diffuse irritable myopathic process consistent with muscle dystrophy. The muscle biopsy findings were consistent with Glycogen storage disease (GSD) type II as shown in Figure
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