以偏瘫就诊的PMM2相关性先天性糖基化障碍1例报告并文献复习

Hemiplegia-Presented Phosphomannomutase-2-Congenital Disorders of Glycosylation:a Case Report and Literature Review

目的探讨磷酸甘露糖变位酶2相关性先天性糖基化障碍(PMM2-CDG)的临床特点。方法回顾性分析1例通过基因确诊、以偏瘫就诊的PMM2-CDG患儿的临床资料,并复习相关文献。结果患儿,女,2岁3个月,有小头畸形,乳头内陷,可疑的脂肪异常分布,营养不良,发育落后,小脑萎缩,肌张力降低,肌无力等。基因测序显示患儿16号染色体上PMM2基因致病性的复合杂合突变(c.457delATAAG和c.395T>C),确诊为PMM2-CDG。结论PMM2-CDG可累计各个脏器,但病情轻重不一,基因有助于诊断,有典型症状时应考虑本病可能;若症状单一,诊断棘手时,本病也可考虑作为鉴别诊断。

Objective To explore the clinical characteristics of phosphomannomutase-2-congenital disorders of glycosylation(PMM2-CDG).Methods The clinical data of a child who sought medical advice for hemiplegia and was definitely diagnosed as PMM2-CDG by gene detection were analyzed retrospectively.The related literature was reviewed.Results The 27-month-old female infant suffered from microcephaly,nipple retraction,suspected fat distribution abnormalities,malnutrition,developmental retardation,cerebellar atrophy,hypotonia and myasthenia.Gene sequencing showed pathogenic heterozygous mutations(c.457delATAAG and c.395T>C)in the PMM2 gene,confirming the diagnosis of PMM2-CDG.Conclusion PMM22-CDG can involve all organs with different severities.Gene detection is helpful for the diagnosis of PMM22-CDG.The disease should be considered when patients present with typical symptoms.If patients have a single symptom and the diagnosis is difficult to make,the disease should also be considered as a differential diagnosis.