关键词: 鱼鳞病样角化症； 痉挛； 髓鞘形成障碍； ELOVL 1基因

Abstract: Objective To investigate the clinical characteristics and pathogenic gene of a patient diagnosed with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic facies (IKSHD). Method Clinical data of a patient with IKSHD was retrospectively analyzed, and related literatures were reviewed. Results The 1 year and 7 months old boy displayed ichthyoid keratosis of the skin of the elbow, knee, ankle and the dorsal side of the leg, spastic paraplegia, nystagmus with strabismus, facial deformity and hearing impairment. Cranial MRI showed hypomyelination. The gene sequencing identified a de novo heterozygous mutation of c.464 G>C in ELOVL 1 gene which has not been reported. According to ACMG rating, this variant was classified with likely pathogenic. Combined with the clinical manifestations and genetic results, diagnosis of IKSHD was arrived. Conclusion Gene sequencing is helpful for the diagnosis of IKSHD and the discovery of novel missense mutation (c.464G>C).

Key words: ichthyotic keratoderma; spasticity; hypomyelination; ELOVL 1 gene