关键词: 泛酸激酶相关神经变性病；　铁沉积；　PANK2基因；　突变

Abstract: Objective　To explore the clinical and genetic characteristics of pantothenate kinase-associated neurodegeneration (PKAN). Methods　The clinical data and gene detection results of PKAN in two children were analyzed. The key words of "Hallervorden spalz", "brain iron deposition", "NBIA", "PKAN" and " PANK2" were used to search in PubMed, HGMD, CNKI and Wanfang databases up to March 2019 for literature review. Results　Both cases were boys. Case 1 was a 7-year- and 2-month-old boy and suffered from increased muscle tension for more than 3 years and aggravated for 2 weeks. The brain MRI showed globus pallidus lesion. The whole exon gene detection found a heterozygous variation of C.515-527del, C.644-645delGAinsAT in the PANK2 gene, and the mother carried a heterozygous pathogenic variation, and the father carried a suspected heterozygous pathogenic variation. Case 2 was a 14-year and 9-month-old boy and had unsteady walking for 8 years and aggravated for 1 year. The homozygous variation of c.397A>G (p.Met133Val) in PANK2 gene was found by whole exon gene detection, and the heterozygous mutation was found in the mother, but no mutation was detected in the father. Conclusion Both heterozygous and homozygous mutations of PANK2 gene can cause the disease.

Key words: 　pantothenate kinase associated neurodegeneration disease;　iron deposition;　PANK2 gene;　mutation