๐ ็ธฝ็ฎ้ ๏ฝ ๐ ่ฑๆๅๆ๏ผๆฌ็ฏ๏ผ ๏ฝ ๐ ๅฎๆด็ฟป่ญฏ ๏ฝ โญ ็ฒพ่ฏ็ญ่จ
Refsum syndrome
Refsum syndrome
Clinical features Refsum syndrome (hereditary motor and sensory neuropathy type 4, heredopathica atactica polyneuritiformis, phytanic acid deficiency) is a rare type of an autosomal recessive syndromic ichthyosis.1 The skin changes appear in late childhood and are similar to those seen in ichthyosis vulgaris, including hyperlinear palms. Due to lipid storage, melanocytic nevi may show a yellow hue. Associated symptoms include loss of vision from retinitis pigmentosa, in which night blindness is often the first problem. Other complications are anosmia, cardiac arrhythmias, and a whole spectrum of neurological problems, including bilateral sensorineural deafness, cerebellar ataxia, and peripheral polyneuropathies.2