CAJ | 학술논문

目的报道1例22岁男性糖原累积病Ⅳ型(Anderson disease)患者临床及病理特点.方法对该患者行详细的病史询问和体格检查、心脏和腹部超声检查、头颅影像学、肌电图以及肌肉病理检查.结果患者儿童期发病,主要表现为四肢近端肌肉运动不耐受和疲劳感,偶有心悸;腹部超声示肝硬化、门脉高压和巨脾,超声心动图示心肌肥大、二尖瓣和三尖瓣轻度关闭不全;四肢骨骼肌肌电图示肌源性损害.头颅影像正常.肌肉病理HE染色示肌纤维内大量嗜碱性物质沉积,沉积物糖原染色(PAS)染色呈强阳性,淀粉酶处理后部分阳性物质被消化.电镜下嗜碱性沉积物为分支状细丝样结构以及无定型的颗粒样物质.结论此例为国内首次报告的糖原累积病Ⅳ型,属于分支酶缺陷病,受累组织和器官以骨骼肌、肝脏、脾脏和心肌为主.
목적 보도1례22세남성당원루적병Ⅳ형(Anderson disease)환자림상급병리특점.방법 대해환자행상세적병사순문화체격검사、심장화복부초성검사、두로영상학、기전도이급기육병리검사.결과환자인동기발병,주요표현위사지근단기육운동불내수화피로감,우유심계;복부초성시간경화、문맥고압화거비,초성심동도시심기비대、이첨판화삼첨판경도관폐불전;사지골격기기전도시기원성손해.두로영상정상.기육병리HE염색시기섬유내대량기감성물질침적,침적물당원염색(PAS)염색정강양성,정분매처리후부분양성물질피소화.전경하기감성침적물위분지상세사양결구이급무정형적과립양물질.결론 차례위국내수차보고적당원루적병Ⅳ형,속우분지매결함병,수루조직화기관이골격기、간장、비장화심기위주.
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.