SEVERE CARDIOMYOPATHY REVEALING TYPE-IV G LYCOGEN-STORAGE-DISEASE IN 2 SIBS

Type IV glycogen storage disease, also termed Andersen's disease or am ylopectinosis, is a rare autosomic recessive hereditary disease usuall y caused by a deficit in glycogen branching enzyme. We report our obse rvation of two siblings with type IV glycogen storage disease who had normal branching enzyme activity. The initial symptom was severe heart failure. A 14-year-old boy, born to consanguinous parents, was seen f or severe global heart failure. Growth retardation had been diagnosed since the age of 6 and abnormal fatigability since the age of 12. Musc le and endomyocardium biopsies revealed abnormal glycogen storage with normal branching enzyme activity. The patient's condition improved af ter symptomatic treatment, but death occurred due to infectious compli cations after orthoptic heart transplantation. One year later, the pro band's 12-year-old sister, with an uneventful personal medical history , was hospitalized for severe left ventricular failure. Muscle and liv er biopsies demonstrated the same anomalies, again without branching e nzyme deficiency in the liver. Heart failure was controlled with sympt omatic care and the patient's current condition remains satisfactory. This observation demonstrates the clinical expression of familial type IV glycogen storage disease in patients with normal branching enzyme activity, Age at onset is quite variable, reported from 5 to 70 years, as is the clinical course before diagnosis.