磷酸甘露糖变位酶2 , 先天性糖蛋白糖基化障碍, 卒中样发作

To explore the clinical characteristics and prognosis of stroke-like episodes（SLE）in phosphomannomutase-2-related congenital disorders of glycosylation（PMM2-CDG）.We analyzed retrospectively the clinical data of siblings who successively suffered from SLE which was definitely diagnosed as PMM2-CDG and made literature review related to the disease.The siblings both suffered from SLE and seizures.The 10-year-old brother experienced slight developmental delay and the 6-year-old sister was diagnosed with hypothyroidism.Whole exome sequencing and Sanger sequencing identified homozygous mutation（c.310C>G，p.Leu104Val）in the brother and sister， while their parents were heterozygous. They were diagnosed with PMM2-CDG. The literature review showed that the most common mutation site of PMM2-CDG was p.I132T in China， which was p.R141H in the literature reported abroad. SLE in PMM2-CDG patients are usually characterized by persistent high fever， disturbance of consciousness， symptoms of neurological defects， convulsion and headache caused by head trauma and viral infection， but the prognosis is good， and there are few cases of neurological sequelae.Invasive examinations such as lumbar puncture and neuroimaging under sedation should be avoided in case of aggravating the condition.Gene test helps to confirm the diagnosis.

phosphomannomutase-2 （PMM2）, congenital disorders of glycosylation, stroke-like episodes