儿童颅脑Ⅰ型神经纤维瘤病的MRI应用价值

The value of MRI in children with craniocerebral neurofibromatosis type I

目的 探讨儿童颅脑Ⅰ型神经纤维瘤病(NF)的MRI应用价值。方法 选取16例确诊为Ⅰ型神经纤维瘤病(NF-Ⅰ型)的儿童头颅MRI影像资料进行回顾性分析。结果 1)MRI表现:发病部位包括基底节区9例,丘脑8例,海马6例,小脑11例,脑干8例,眼眶/额叶4例;病变形态:类圆形9例,结节状6例,条状5例,点状6例,不规则状4例;MRI信号:T1WI呈低信号6例、等信号10例,T2WI高/稍高信号16例,FLAIR高/稍高信号14例,DWI等信号16例;MRS:Cho峰增高2例;NAA峰降低2例;2)合并症:蝶骨异常2例,眼球突出2例,脊柱侧弯4例,肺气囊1例。结论 儿童颅脑NF-Ⅰ型的发病部位多为基底节区、丘脑、小脑及脑干,类圆形多见,T1WI呈等低信号,T2WI及FLAIR呈高/稍高信号,确诊需MRI与临床表现相结合。

Objective To investigate the value of MRI in children with craniocerebral neurofibromatosis type I.Methods The MRI images of 16 children with neurofibromatosis type I were retrospectively analyzed.Results MRI findings were as fol⁃lows:9 cases were located in the basal ganglia,8 cases in thalamus,6 cases in hippocampus,11 cases in cerebellum,8 cases in brain stem,and 4 cases in orbital/frontal lobe.Pathological morphology were as follows:9 cases were quasi circular,6 cases were nodular,5 cases were strip shape,6 cases were punctate,and 4 cases were irregular.MRI showed that 6 cases had low sig⁃nal and 10 cases had equal signal on T1WI,16 cases had high/slightly high signal intensity on T2WI,14 cases had FLAIR high/slightly high signal,and 16 cases had DWI and other signals.MRS showed that Cho peak increased in 2 cases,NAA peak de⁃creased in 2 cases.As for complications,abnormal sphenoid bone was found in 2 cases,exophthalmos in 2 cases,scoliosis in 4 cases,and pulmonary air sac in 1 case.Conclusion The onset sites of type I neurofibromatosis in children's brain are mostly basal ganglia,thalamus,cerebellum and brain stem.Quasi circular morphology is more common.Equal low signal on T1WI,high/slightly high signal on T2WI and FLAIR,and MRI should be combined with clinical manifestations for diagnosis.