[The clinical and pathological characteristics of a patient with glycogen storage disease IV].

ABSTRACT

OBJECTIVE: To report the clinical and pathological characteristics of one patient with glycogen storage disease IV (Anderson disease). METHODS: The patient was received detailed clinical examinations, ultrasound, electromyography, head MRI and muscle biopsy. RESULTS: The onset of the 22 years old male patient was 7 yrs. The main symptoms were intolerance and fatigue in proximal limbs muscular movement, cardiopalmus by chance. Abdominal ultrasound examinations showed cirrhosis, portal hypertension, splenomegaly. Echocardiogram showed left ventricular myohypertrophia, mild mitral and tricuspid valve insufficiency. Electrophysiology study revealed widespread myogenic changes. Cranial MRI, MRA and MRS were normal. Muscle biopsy showed basophilic intracytoplasmic material in a lot of fibers deposits, which was intensively PAS-positive material and partially resistant to diastase digestion. In the electron microscope, the storage material consisted of filamentous and finely granular material. CONCLUSIONS: There was the first case of glycogen storage disease IV reported in our country, mainly involved skeletal muscle, liver, spleen and cardiac muscle.