Refsum综合征又称植烷酸沉积病(Phytanic acidstorage disease)。本病极为少见,国内报道不多,现将我院所见的2例报道如下。 例1,男,29岁。四肢麻木无力一年,伴行走不稳半年,1年前出现下肢无力伴麻木,数月后上肢远端出现麻木无力,并从远端向近端发展,近半年来行走、持物不稳,动作笨拙,不能做精细动作,口齿不清,肢体逐渐变细,家族中其叔父为同病患者,长期卧床因感染而死亡。其父母非近亲结婚。检查:说话口齿不清,双眼视力0.8,粗大水平眼震,眼底呈豹纹状,视乳头颞侧较苍白,裂隙灯检查有晶体混浊、四肢肌肉轻度萎缩,以前臂肌群,骨间肌和胫前肌为明显。双 Refsum syndrome, also known as phytanic acid deposition disease (Phytanic acidstorage disease). The disease is extremely rare, not many domestic reports, now we see 2 cases reported in our hospital are as follows. Example 1, male, 29 years old. Limb numbness impotence year, accompanied by unsteady six months, a year ago with lower limb weakness with numbness, a few months after the distal limb numbness and weakness, and from distal to proximal development, walking nearly half a year, holding things unstable, action Clumsy, can not do fine movements, slurred speech, body tapering, the family of his uncle as the same patient, bedridden due to infection and died. Their parents marry non-relatives. Check: Speak clearly, binocular vision 0.8, coarse horizontal nystagmus, leopard-like retinacia, temporal papilla pale, slit lamp check crystal cloudy, mild muscle atrophy of the limbs to the forearm muscles, interosseous muscle And tibialis anterior muscle is obvious. double