儿童黏多糖贮积症颅脑MRI影像学表现
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摘要
目的探讨儿童黏多糖贮积症(MPS)的颅脑MRI表现。方法回顾性分析2014年至2017年本院诊治为MPS的9例患儿的颅脑MRI影像资料。检查序列包括T_1WI、T_2WI、液体衰减反转恢复(FLAIR)、扩散加权成像(DWI)序列。结果 9例颅脑内均可见多发小囊状信号呈放射状分布;9例脑白质内均可见片状长T_1、长T_2信号,FLAIR呈高信号,无扩散受限;7例幕上脑室扩张,其中1例合并脑萎缩;蛛网膜下腔间隙增宽以后颅窝及蝶鞍为主,其中1例合并后颅窝蛛网膜囊肿;4例T_2WI矢状位示颅颈交界区椎管前后径缩小,脑脊液空间呈受压改变;6例头型狭长,其中4例颅骨板障增厚。结论 MPS颅脑MRI表现总体可归纳为:血管周围间隙扩大、脑白质异常信号、脑脊液空间增大以及颅颈交界区狭窄。
Objective To study the MRI features of brain in children with mucopolysaccharidosis(MPS). Methods A retrospective analysis was performed on MRI findings of brain in 9 cases of children with mucopolysaccharidosis diagnosed in our hospital between 2014 and 2017. The sequence groups included T_1WI, T_2WI, FLAIR, and DWI. Results 9 patients had multiple cystic areas radially,plaque-like white matter lesions displaying long T_1 and long T_2 signal intensities were revealed in 9 patients,and FLAIR sequence showed high signal without diffusion restriction. 7 patients showed supratentorial ventricular dilatation,and 1 patient showed cerebral atrophy. Cranial fossa and sella turcica were the main types of subarachnoid space widening. One of them had posterior cranial fossa arachnoid cyst. T_2WI showed that the diameter of the vertebral canal decreased and cerebrospinal fluid space had visible compression in 4 patients with craniocervical junction area stenosis. 6 patients had long and narrow head-shapes,in which 4 patients had thickened skull plates. Conclusion The brain MRI findings of MPS can be summarized into four main points:enlarged perivascular space,abnormal white matter signal,increased cerebrospinal fluid space and narrow craniocervical junction.
Objective To study the MRI features of brain in children with mucopolysaccharidosis(MPS). Methods A retrospective analysis was performed on MRI findings of brain in 9 cases of children with mucopolysaccharidosis diagnosed in our hospital between 2014 and 2017. The sequence groups included T_1WI, T_2WI, FLAIR, and DWI. Results 9 patients had multiple cystic areas radially,plaque-like white matter lesions displaying long T_1 and long T_2 signal intensities were revealed in 9 patients,and FLAIR sequence showed high signal without diffusion restriction. 7 patients showed supratentorial ventricular dilatation,and 1 patient showed cerebral atrophy. Cranial fossa and sella turcica were the main types of subarachnoid space widening. One of them had posterior cranial fossa arachnoid cyst. T_2WI showed that the diameter of the vertebral canal decreased and cerebrospinal fluid space had visible compression in 4 patients with craniocervical junction area stenosis. 6 patients had long and narrow head-shapes,in which 4 patients had thickened skull plates. Conclusion The brain MRI findings of MPS can be summarized into four main points:enlarged perivascular space,abnormal white matter signal,increased cerebrospinal fluid space and narrow craniocervical junction.
引文
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14 Mun'oz-Rojas MV,Horovitz DD,Jardim LB,et al.Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis[J].Molecular genetics and metabolism,2010,99:346-350.
15 Horovitz DD,Magalhes Tds C,Pena e Costa A,et al.Spinal cord compression in young children with type VI mucopolysaccharidosis[J].Molecular genetics and metabolism,2011,104:295-300.
2 Matheus MG,Castillo M,Smith JK,et al.Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation[J].Neuroradiology,2004,46:666-672.
3 Manara R,Priante E,Grimaldi M,et al.Brain and spine MRI features of Hunter disease:frequency,natural evolution and response to therapy[J].Journal of inherited metabolic disease,2011,34:763-780.
4 Heuer GG,Passini MA,Jiang K,et al.Selective neurodegeneration in murine mucopolysaccharidosis VII is progressive and reversible[J].Annals of neurology,2002,52:762-770.
5 Oztürk MH,Ayding9z U.Comparison of MR signal intensities of cerebral perivascular(Virchow-Robin)and subarachnoid spaces[J].Journal of computer assisted tomography,2002,26:902-904.
6 Davison JE,Hendriksz CJ,Sun Y,et al.Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II(Hunter Syndrome)[J].Journal of inherited metabolic disease,2010,33:395-399.
7 Vedolin L,Schwartz IV,Komlos M,et al.Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosisⅡ[J].American journal of neuroradiology,2007,28:1029-1033.
8 Vedolin L,Schwartz IV,Komlos M,et al.Brain MRI in mucopolysaccharidosis Effect of aging and correlation with biochemical findings[J].Neurology,2007,69:917-924.
9 Azevedo AC,Artigalás O,Vedolin L,et al.Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI[J].Journal of inherited metabolic disease,2013,36:357-362.
10 Colleja Gero ML,Gonzlez Gutiérrez-Solana L,López Marín L,et al.Neuroimaging findings in patient series with mucopolysaccharidosis[J].Neurologia,2012,27:407-413.
11.Lee C,Dineen TE,Brack M,et al.The mucopolysaccharidoses:characterization by cranial MR imaging[J].American journal of neuroradiology,1993,14:1285-1292.
12 Parsons VJ,Hughes DG,Wraith JE.Magnetic resonance imaging of the brain,neck and cervical spine in mild Hunter's syndrome(mucopolysaccharidoses typeⅡ)[J].Clinical radiology,1996,51:719-723.
13 Solanki GA,Martin KW,Theroux MC,et al.Spinal involvement in mucopolysaccharidosis IVA(Morquio-Brailsford or Morquio A syndrome):presentation,diagnosis and management[J].Journal of inherited metabolic disease,2013,36:339-355.
14 Mun'oz-Rojas MV,Horovitz DD,Jardim LB,et al.Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis[J].Molecular genetics and metabolism,2010,99:346-350.
15 Horovitz DD,Magalhes Tds C,Pena e Costa A,et al.Spinal cord compression in young children with type VI mucopolysaccharidosis[J].Molecular genetics and metabolism,2011,104:295-300.