Ⅰ型神经纤维瘤病六例磁共振成像特点分析
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摘要
目的总结Ⅰ型神经纤维瘤病患者T_2WI不明原因亮点的特点、分布和年龄相关性,以为疾病早期诊断提供依据。方法与结果对2014年6月至2017年12月就诊的3个Ⅰ型神经纤维瘤病家系中3例患者和3例散发患者临床资料的分析提示,广泛分布于全身皮肤的咖啡牛奶斑为其首发症状;T_2WI存在不明原因亮点(2例)的患者年龄<18岁(14和16岁),病灶呈多发性,以丘脑受累为主,临床表现为智力发育迟缓、癫癎发作、头痛。结论 T_2WI不明原因亮点是年龄<18岁的Ⅰ型神经纤维瘤病患者的特征性影像学改变,对青少年患者的早期诊断具有提示意义。
Objective To provide the basis for early diagnosis of neurofibromatosis type 1(NF1)through summarizing the characteristics and location of unidentified bright objects(UBOs) on T_2WI in NF1 patients and their correlation with age. Methods and Results Clinical data of 6 patients with NF1(3 had family history and the others were sporadic cases) from June 2014 to December 2017 were collected and analyzed. All patients were initially presented with cafe-au-lait spots over the body, among whom 2 patients under 18 years old(14 and 16 years old) both showed multiple abnormal T_2WI UBOs on brain MRI mainly involving thalamus, and presented mental retardation, epileptic seizures and headache. Conclusions T_2WI UBOs were common imaging manifestations in NF1 patients under the age of 18 years, which had implications for the diagnosis of NF1 in young patients.
Objective To provide the basis for early diagnosis of neurofibromatosis type 1(NF1)through summarizing the characteristics and location of unidentified bright objects(UBOs) on T_2WI in NF1 patients and their correlation with age. Methods and Results Clinical data of 6 patients with NF1(3 had family history and the others were sporadic cases) from June 2014 to December 2017 were collected and analyzed. All patients were initially presented with cafe-au-lait spots over the body, among whom 2 patients under 18 years old(14 and 16 years old) both showed multiple abnormal T_2WI UBOs on brain MRI mainly involving thalamus, and presented mental retardation, epileptic seizures and headache. Conclusions T_2WI UBOs were common imaging manifestations in NF1 patients under the age of 18 years, which had implications for the diagnosis of NF1 in young patients.
引文
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[20]Rerat K,Parker F,Nasser G,Vidaud D,Riant F,TournierLasserve E,Denier C.Occurrence of multiple cerebral cavernous malformations in a patient with neurofibromatosis type 1[J].J Neurol Sci,2015,350(1/2):98-100.
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[23]Hyman SL,Gill DS,Shores EA,Steinberg A,Joy P,Gibikote SV,North KN.Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1[J].Neurology,2003,60:1139-1145.
[24]Salman MS,Hossain S,Gorun S,Alqublan L,Bunge M,Rozovsky K.Cerebellar radiological abnormalities in children with neurofibromatosis type 1:part 2.A neuroimaging natural history study with clinical correlations[J].Cerebellum Ataxias,252018,5:13.
[25]Payne JM,Pickering T,Porter M,Oates EC,Walia N,Prelog K,North KN.Longitudinal assessment of cognition and T2-hyperintensities in NF1:an 18-year study[J].Am J Med Genet A,2014,164A:661-665.
[26]Griffith JL,Morris SM,Mahdi J,Goyal MS,Hershey T,Gutmann DH.Increased prevalence of brain tumors classified as T2hyperintensities in neurofibromatosis 1[J].Neurol Clin Pract,2018,8:283-291.
[27]Kim JE,Cheon JE,Kim IO,Choi YH,Kim WS.Growing cystlike white matter lesions in children with neurofibromatosis type1[J].Pediatr Neurol,2017,77:84-88.
[28]Ferner RE,Gutmann DH.Neurofibromatosis type 1(NF1):diagnosis and management[J].Handb Clin Neurol,2013,115:939-955.
[29]Rby NS,Griffith JL,Gutmann DH,Morris SM.Adaptive functioning in children with neurofibromatosis type 1:relationship to cognition,behavior,and magnetic resonance imaging[J].Dev Med Child Neurol,2019.[Epub ahead of print]
[30]Santoro C,Bernardo P,Coppola A,Pugliese U,Cirillo M,Giugliano T,Piluso G,Cinalli G,Striano S,Bravaccio C,Perrotta S.Seizures in children with neurofibromatosis type 1:is neurofibromatosis type 1 enough[J]?Ital J Pediatr,2018,44:41.
[31]Parmeggiani A,Boiani F,Capponi S,Duca M,Angotti M,Pignataro V,Sacrato L,Spinardi L,Vara G,Maltoni L,Cecconi I,Pastore Trossello M,Franzoni E.Neuropsychological profile in Italian children with neurofibromatosis type 1(NF1)and their relationships with neuroradiological data:preliminary results[J].Eur J Paediatr Neurol,2018,22:822-830.
[32]Goh WH,Khong PL,Leung CS,Wong VC.T2-weighted hyperintensities(unidentified bright objects)in children with neurofibromatosis 1:their impact on cognitive function[J].JChild Neurol,2004,19:853-858.
[33]Salman MS,Hossain S,Alqublan L,Bunge M,Rozovsk K.Cerebellar radiological abnormalities in children with neurofibromatosis type 1.Part 1:Clinical and neuroimaging findings[J].Cerebellum Ataxias,2018,5:14.
[34]Cohen R,Steinberg T,Kornreich L,Aharoni S,Halevy A,Shuper A.Brain imaging findings and social/emotional problems in Israeli children with neurofibromatosis type 1[J].Eur J Pediatr,2015,174:199-203.
[35]Lopes Ferraz Filho JR,Munis MP,Soares Souza A,Sanches RA,Goloni-Bertollo EM,Pavarion-Betelli EC.Unidentified bright objects on brain MRI in children as a diagnostic criterion for neurofibromatosis type 1[J].Pediatr Radiol,2008,38:305-310.
[2]Castle B,Baser ME,Huson SM,Cooper DN,Upadhyaya M.Evaluation of genotype-phenotype correlations in neurofibromatosis type 1[J].J Med Genet,2003,40:E109.
[3]National Institutes of Health Consensus Development Conference.Neurofibromatosis:conference statement[J].Arch Neurol,1988,45:575-578.
[4]Yao R,Wang L,Yu Y,Wang J,Shen Y.Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children[J].J Dermatol,2016,43:537-542.
[5]Fox CJ,Tomajian S,Kaye AJ,Russo S,Abadie JV,Kaye AD.Perioperative management of neurofibromatosis type 1[J].Ochsner J,2012,12:111-121.
[6]Tadini G,Milani D,Menni F,Pezzani L,Sabatini C,Esposito S.Is it time to change the neurofibromatosis 1 diagnostic criteria[J]?Eur J Intern Med,2014,25:506-510.
[7]Shilyansky C,Karlsgodt KH,Cummings DM,Sidiropoulou K,Hardt M,James AS,Ehninger D,Bearden CE,Poirazi P,Jentsch JD,Cannon TD,Levine MS,Silva AJ.Neurofibromin regulates corticostriatal inhibitory networks during working memory performance[J].Proc Natl Acad Sci USA,2010,107:13141-13146.
[8]DeBella K,Poskitt K,Szudek J,Friedman JM.Use of"unidentified bright objects"on MRI for diagnosis of neurofibromatosis 1 in children[J].Neurology,2000,54:1646-1651.
[9]Ruegger AD,Coleman L,Hansford JR,Mclean N,Dabscheck G.Spinal cord hyperintensities in neurofibromatosis type 1:are they the cord equivalent of unidentified bright objects in the brain[J]?Pediatr Neurol,2018,86:63-65.
[10]Tognini G,Ferrozzi F,Garlaschi G,Piazza P,Patti A,Virdis R,Bertolino C,Bertolino G,Manfredini D,Zompatori M,Crisi G.Brain apparent diffusion coefficient evaluation in pediatric patients with neurofibromatosis type 1[J].J Comput Assist Tomogr,2005,29:298-304.
[11]Gill DS,Hyman SL,Steinberg A,North KN.Age-related findings on MRI in neurofibromatosis type 1[J].Pediatr Radiol,2006,36:1048-1056.
[12]Sabol Z,Resic B,Juraski GR,Sabol F,Sizgoric MK,Orsolic K,Ozretic D,Grahovac DS.Clinical sensitivity and specificity of multiple T2-hyperintensities on brain magnetic resonance imaging in diagnosis of neurofibromatosis type 1 in children:diagnostic accuracy study[J].Croat Med J,2011,52:488-496.
[13]Billiet T,Madler B,D'Arco F,Peeters R,Deprez S,Plasschaert E,Leemans A,Zhang H,Bergh BV,Vandenbulcke M,Legius E,Sunaert S,Emsell L.Characterizing the microstructural basis of"unidentified bright objects"in neurofibromatosis type 1:a combined in vivo multicomponent T2relaxation and multi-shell diffusion MRI analysis[J].Neuroimage Clin,2014,4:649-658.
[14]Tritt S,Hillenbrand N,Liesirova K,Moein G,Kieslich M,Porto L.Comparison of the detectability of UBOs in neurofibromatosis typeⅠpatients with proton density-weighted and FLAIRsequences in 3T MRI[J].Eur J Paediatr Neurol,2018,22:615-619.
[15]Nicita F,Di Biasi C,Sollaku S,Cecchini S,Salpietro V,Pittalis A,Papetti L,Ursitti F,Ulgiati F,Zicari AM,Gualdi GF,Properzi E,Duse M,Ruggieri M,Spalice A.Evaluation of the basal ganglia in neurofibromatosis type 1[J].Childs Nerv Syst,2014,30:319-325.
[16]Toh T,Magnaldi S,White RM,Denckla MB,Hofman K,Naidu S,Bryan RN.Neurofibromatosis type 1:the evolution of deep gray and white matter MR abnormalities[J].AJNR Am JNeuroradiol,1994,15:1513-1519.
[17]Kim BS,Illes J,Kaplan RT,Reiss A,Atlas SW.Incidental findings on pediatric MR images of the brain[J].AJNR Am JNeuroradiol,2002,23:1674-1677.
[18]Rodrigues AC Jr,Ferraz-Filho JR,Torres US,da Rocha AJ,Muniz MP,Souza AS,Goloni-Bertollo EM,PavarinoéC.Is magnetic resonance spectroscopy capable of detecting metabolic abnormalities in neurofibromatosis type 1 that are not revealed in brain parenchyma of normal appearance[J]?Pediatr Neurol,2015,52:314-319.
[19]Hervey-Jumper SL,Singla N,Gebarski SS,Robertson P,Maher CO.Diffuse pontine lesions in children with neurofibromatosis type 1:making a case for unidentified bright objects[J].Pediatr Neurosurg,2013,49:55-59.
[20]Rerat K,Parker F,Nasser G,Vidaud D,Riant F,TournierLasserve E,Denier C.Occurrence of multiple cerebral cavernous malformations in a patient with neurofibromatosis type 1[J].J Neurol Sci,2015,350(1/2):98-100.
[21]Barbier C,Chabernaud C,Barantin L,Bertrand P,Sembely C,Sirinelli D,Castelnau P,Cottier JP.Proton MR spectroscopic imaging of basal ganglia and thalamus in neurofibromatosis type1:correlation with T2hyperintensities[J].Neuroradiology,2011,53:141-148.
[22]Kraut MA,Gerring JP,Cooper KL,Thompson RE,Denckla MB,Kaufmann WE.Longitudinal evolution of unidentified bright objects in children with neurofibromatosis-1[J].Am J Med Genet A,2004,129A:113-119.
[23]Hyman SL,Gill DS,Shores EA,Steinberg A,Joy P,Gibikote SV,North KN.Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1[J].Neurology,2003,60:1139-1145.
[24]Salman MS,Hossain S,Gorun S,Alqublan L,Bunge M,Rozovsky K.Cerebellar radiological abnormalities in children with neurofibromatosis type 1:part 2.A neuroimaging natural history study with clinical correlations[J].Cerebellum Ataxias,252018,5:13.
[25]Payne JM,Pickering T,Porter M,Oates EC,Walia N,Prelog K,North KN.Longitudinal assessment of cognition and T2-hyperintensities in NF1:an 18-year study[J].Am J Med Genet A,2014,164A:661-665.
[26]Griffith JL,Morris SM,Mahdi J,Goyal MS,Hershey T,Gutmann DH.Increased prevalence of brain tumors classified as T2hyperintensities in neurofibromatosis 1[J].Neurol Clin Pract,2018,8:283-291.
[27]Kim JE,Cheon JE,Kim IO,Choi YH,Kim WS.Growing cystlike white matter lesions in children with neurofibromatosis type1[J].Pediatr Neurol,2017,77:84-88.
[28]Ferner RE,Gutmann DH.Neurofibromatosis type 1(NF1):diagnosis and management[J].Handb Clin Neurol,2013,115:939-955.
[29]Rby NS,Griffith JL,Gutmann DH,Morris SM.Adaptive functioning in children with neurofibromatosis type 1:relationship to cognition,behavior,and magnetic resonance imaging[J].Dev Med Child Neurol,2019.[Epub ahead of print]
[30]Santoro C,Bernardo P,Coppola A,Pugliese U,Cirillo M,Giugliano T,Piluso G,Cinalli G,Striano S,Bravaccio C,Perrotta S.Seizures in children with neurofibromatosis type 1:is neurofibromatosis type 1 enough[J]?Ital J Pediatr,2018,44:41.
[31]Parmeggiani A,Boiani F,Capponi S,Duca M,Angotti M,Pignataro V,Sacrato L,Spinardi L,Vara G,Maltoni L,Cecconi I,Pastore Trossello M,Franzoni E.Neuropsychological profile in Italian children with neurofibromatosis type 1(NF1)and their relationships with neuroradiological data:preliminary results[J].Eur J Paediatr Neurol,2018,22:822-830.
[32]Goh WH,Khong PL,Leung CS,Wong VC.T2-weighted hyperintensities(unidentified bright objects)in children with neurofibromatosis 1:their impact on cognitive function[J].JChild Neurol,2004,19:853-858.
[33]Salman MS,Hossain S,Alqublan L,Bunge M,Rozovsk K.Cerebellar radiological abnormalities in children with neurofibromatosis type 1.Part 1:Clinical and neuroimaging findings[J].Cerebellum Ataxias,2018,5:14.
[34]Cohen R,Steinberg T,Kornreich L,Aharoni S,Halevy A,Shuper A.Brain imaging findings and social/emotional problems in Israeli children with neurofibromatosis type 1[J].Eur J Pediatr,2015,174:199-203.
[35]Lopes Ferraz Filho JR,Munis MP,Soares Souza A,Sanches RA,Goloni-Bertollo EM,Pavarion-Betelli EC.Unidentified bright objects on brain MRI in children as a diagnostic criterion for neurofibromatosis type 1[J].Pediatr Radiol,2008,38:305-310.