Olivé M, Ferrer I, Jauma S, Montero J, Martínez-Matos J A
Servicio de Neurología, Hospital de Bellvitge-Prínceps d'Espanya, Barcelona.
Neurologia. 1993 Mar;8(3):122-4.
A 19 year-old patient, second child of a non consanguinous marriage, was evaluated because of the patient progressive mental retardation and muscular weakness from infancy. Six maternal uncles non had died of unknown cause in the first year of life, and his mother had 3 spontaneous miscarriages; the two sisters of the patient were healthy. Clinical examination demonstrated a severe mental retardation, discrete proximal muscular weakness as well as universal areflexia. The muscular enzymes were elevated and the electrophysiologic study showed normal neurographic parameters and abundant generalized spontaneous activity with a mixed type contraction pattern. Histologic examination of the muscle was diagnosed as myopathy with atrophy of type I fibers and central nuclei and upon cranial nuclear magnetic resonance (NMR) images suggestive of perinatal hypoxic-ischemic encephalopathy were observed.
一名19岁患者，系非近亲结婚的第二个孩子，因自幼出现进行性智力发育迟缓及肌肉无力而接受评估。患者的六位舅舅均在出生后第一年不明原因死亡，其母亲有3次自然流产；患者的两个姐妹身体健康。临床检查显示严重智力发育迟缓、轻度近端肌肉无力以及全身无反射。肌肉酶升高，电生理研究显示神经传导参数正常，有大量全身性自发活动，呈混合型收缩模式。肌肉组织学检查诊断为肌病，伴有I型纤维萎缩和中央核，头颅核磁共振成像提示存在围产期缺氧缺血性脑病。
