糖原累积病Ⅳ型的临床和病理特点

糖原累积病Ⅳ型的临床和病理特点

姚生;戚晓昆;熊斌;张巍;郑日亮;袁云

【期刊名称】《中华内科杂志》 【年(卷),期】2009(048)005

【摘要】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 7yrs. 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.%目的 报道1例22岁男性糖原累积病Ⅳ型(Anderson