Neuroimaging in tuberous sclerosis complex

Current Opinion in Neurology

Volumn 20, Issue 2, 2007, Pages 142-150

  Luat, Aimee F ^a   Makki, Malek ^a,b   Chugani, Harry T ^a,b  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

Author keywords

Diffusion tensor imaging; MRI; Neuroimaging; PET scan; Tuberous sclerosis

Indexed keywords

ALPHA METHYLTRYPTOPHAN C 11; FLUORODEOXYGLUCOSE F 18; RADIOPHARMACEUTICAL AGENT; UNCLASSIFIED DRUG;

COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC ACCURACY; DIFFUSION TENSOR IMAGING; ELECTROENCEPHALOGRAM; EPILEPTOGENESIS; HAMARTOMA; HUMAN; INTRACTABLE EPILEPSY; MAGNETOENCEPHALOGRAPHY; MORPHOMETRICS; NEUROIMAGING; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; POSITRON EMISSION TOMOGRAPHY; PROTON NUCLEAR MAGNETIC RESONANCE; REVIEW; SENSITIVITY AND SPECIFICITY; THREE DIMENSIONAL IMAGING; TUBEROUS SCLEROSIS;

BRAIN; HUMANS; MAGNETIC RESONANCE IMAGING; TUBEROUS SCLEROSIS;

EID: 33947098824     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/WCO.0b013e3280895d93     Document Type: Review

References (65)

1. Fryer AE, Chalmers A, Connor JM, et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1987; 1:659-661.
2. van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997; 277:805-808.
3. Kandt RS, Haines JL, Smith M, et al. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet 1992; 2:37-41.
4. Galluzzi P, Cerase A, Strambi M, et al. Hemimegalencephaly in tuberous sclerosis complex. J Child Neurol 2002; 17:677-680.
5. Parmar H, Patkar D, Shah J, Patankar T. Hemimegalencephaly with tuberous sclerosis: a longitudinal imaging study. Australas Radiol 2003; 47:438-442.
6. Sakuma H, Iwata O, Sasaki M. Longitudinal MR findings in a patient with hemimegalencephaly associated with tuberous sclerosis. Brain Dev 2005; 27:458-461.
7. Huntsman RJ, Sinclair DB, Richer LP. Tuberous sclerosis with open lipped schizencephaly. Pediatr Neurol 2006; 34:231-234.
8. Curatolo P, Verdecchia M. Neurological manifestations. In: Curatolo P, editor. Tuberous sclerosis complex: from basic science to clinical phenotypes. International Review of Child Neurology Series. London: Mac Keith Press; 2003. pp. 26-42.
9. Barkovich AJ. Pediatric neuroimaging, 4th edn. Philadelphia: Lippincott Williams and Wilkins; 2005. pp. 463-476.
10. Maeda M, Tartaro A, Matsuda T, Ishii Y. Cortical and subcortical tubers in tuberous sclerosis and FLAIR sequence. J Comput Assist Tomogr 1995; 19:660-661.
11. Takanashi J, Sugita K, Fujii K, Nimi H. MR evaluation of tuberous sclerosis: increased sensitivity with fluid-attenuated inversion recovery and relation to severity of seizures and mental retardation. AJNR Am J Neuroradiol 1995; 16:1923-1928.
12. Kato T, Yamanouchi H, Sugai K, Takashima S. Improved detection of cortical and subcortical tubers in tuberous sclerosis by fluid-attenuated inversion recovery MRI. Neuroradiology 1997; 39:378-380.
13. Baron Y, Barkovich AJ. MR imaging of tuberous sclerosis in neonates and young infants. AJNR Am J Neuroradiol 1999; 20:907-916.
14. Area G, Pacheco E, Alfonso I, et al. Characteristic brain magnetic resonance imaging (MRI) findings in neonates with tuberous sclerosis complex. J Child Neurol 2006; 21:280-285.
15. Pinto Gama HP, da Rocha AJ, Braga FT, et al. Comparative analysis of MR sequences to detect structural brain lesions in tuberous sclerosis. Pediatr Radiol 2006; 36:119-125. •• The authors gave a comparative analysis of the sensitivity of different MRI sequences in the detection of structural brain lesions in TSC. Similar sensitivity between fluid-attenuated inversion recovery and magnetic transfer imaging in detecting cortical tubers was noted.
16. Zikou A, Ioannidou MC, Tzoufi M, et al. Magnetization transfer ratio measurements of the brain in children with tuberous sclerosis complex. Pediatr Radiol 2005; 35:1071-1074.
17. Cotton F, Rambaud L, Hermier M. Dual inversion recovery MRI helps identifying cortical tubers. Epilepsia 2006; 47:1072-1073. • Dual inversion magnetic resonance imaging has a potential role in demonstrating cortical tubers.
18. Ridler K, Suckling J, Higgins NJ, et al. Standardized whole brain mappings of tubers and subependymal nodules in tuberous sclerosis complex. J Child Neurol 2004; 19:658-665.
19. Ridler K, Suckling J, Higgins NJ, et al. Neuroanatomical correlates of memory deficits in tuberous sclerosis complex. Cereb Cortex 2007; 17:261-271. •• Abnormalities in the distribution of the gray and white matter in TSC have been demonstrated through computational morphometric studies. Bilateral deficits in the subcortical gray matter and white matter in TSC are correlated with memory deficits in TSC.
20. Sener RN. Infantile tuberous sclerosis changes in the brain: proton MR spectroscopy findings. Comput Med Imaging Graph 2000; 24:19-24.
21. Mizuno S, Takahashi Y, Kato Z, et al. Magnetic resonance spectroscopy of tubers in patients with tuberous sclerosis. Acta Neurol Scand 2000; 102:175-178.
22. Mukonoweshuro W, Wilkinson ID, Griffiths PD. Proton MR spectroscopy of cortical tubers in adults with tuberous sclerosis complex. AJNR Am J Neuroradiol 2001; 22:1920-1925.
23. Yapici Z, Dincer A, Eraksoy M. Proton spectroscopic findings in children with epilepsy owing to tuberous sclerosis complex. J Child Neurol 2005; 20:517-522.
24. de Carvalho Neto A, Gasparetto EL, Bruck I. Subependymal giant cell astrocytoma with high choline/creatine ratio on proton MR spectroscopy. Arq Neuropsiquiatr 2006; 64:877-880. • The transformation of subependymal nodule to subependymal giant cell astrocytoma can be determined by magnetic resonance spectroscopy.
25. Sener RN. Tuberous sclerosis: diffusion MRI findings in the brain. Eur Radiol 2002; 12:138-143.
26. Jansen FE, Braun KP, van Nieuwenhuizen O, et al. Diffusion-weighted magnetic resonance imaging and identification of the epileptogenic tuber in patients with tuberous sclerosis. Arch Neurol 2003; 60:1580-1584.
27. Sener RN. Diffusion MR imaging of giant cell tumors in tuberous sclerosis. J Comput Assist Tomogr 2003; 27:431-433.
28. Garaci FG, Floris R, Bozzao A, et al. Increased brain apparent diffusion coefficient in tuberous sclerosis. Radiology 2004; 232:461-465.
29. Peng SS, Lee WT, Wang YH, Huang KM. Cerebral diffusion tensor images in children with tuberous sclerosis: a preliminary report. Pediatr Radiol 2004; 34:387-392.
30. Karadag D, Mentzel HJ, Gullmar D, et al. Diffusion tensor imaging in children and adolescents with tuberous sclerosis. Pediatr Radiol 2005; 35:980-983.
31. Firat AK, Karakas HM, Erdem G, et al. Diffusion weighted MR findings of brain involvement in tuberous sclerosis. Diagn Interv Radiol 2006; 12:57-60. •• The authors found no significant difference in the apparent diffusion coefficient values of the hamartomas in different brain regions.
32. Asano E, Chugani DC, Chugani HT. Positron emission tomography. In: Curatolo P, editor. Tuberous sclerosis complex: from basic science to clinical phenotypes. International Review of Child Neurology Series. London: Mac Keith Press; 2003. pp. 124-136.
33. Szelies B, Herholz K, Heiss WD, et al. Hypometabolic cortical lesions in tuberous sclerosis with epilepsy: demonstration by positron emission tomography. J Comput Assist Tomogr 1983; 7:946-953.
34. Rintahaka PJ, Chugani HT. Clinical role of positron emission tomography in children with tuberous sclerosis. J Child Neurol 1997; 12:42-52.
35. Mata M, Fink DJ, Gainer H, et al. Activity-dependent energy metabolism in rat posterior pituitary primarily reflects sodium pump activity. J Neurochem 1980; 34:213-215.
36. Asano E, Chugani DC, Muzik O, et al. Multimodality imaging for improved detection of epileptogenic foci in tuberous sclerosis complex. Neurology 2000; 54:1976-1984.
37. Asano E, Chugani DC, Juhasz C, et al. Epileptogenic zones in tuberous sclerosis complex: subdural EEG versus MRI and FDG PET. Epilepsia 2000; 41 (suppl 17):128.
38. Asano E, Chugani DC, Muzik O, et al. Autism in tuberous sclerosis complex is related to both cortical and subcortical dysfunction. Neurology 2001; 57:1269-1277.
39. Eluvathingal TJ, Behen ME, Chugani HT, et al. Cerebellar lesions in tuberous sclerosis complex: neurobehavioral and neuroimaging correlates. J Child Neurol 2006; 21:846-851. •• Using magnetic resonance imaging, FDG-PET and AMT-PET scanning, the neurobehavioral correlates of cerebellar tubers were analyzed. Right-sided cerebellar lesions were found to be associated with higher social isolation and communicative and developmental disturbance compared with left-sided cerebellar lesions.
40. Gomez MR. Neurologic and psychiatric features. In: Gomez MR, editor. Tuberous sclerosis. New York: Raven Press; 1988. pp. 21-36.
41. Webb DW, Fryer AE, Osborne JP. Morbidity associated with tuberous sclerosis: a population study. Dev Med Child Neurol 1996; 38:146-155.
42. Jozwiak S, Schwartz RA, Janniger CK, Bielicka-Cymerman J. Usefulness of diagnostic criteria of tuberous sclerosis in pediatric patients. J Child Neurol 2000; 15:652-659.
43. Curatolo P, Seri S. Seizures. In: Curatolo P, editor. Tuberous sclerosis complex: from basic science to clinical phenotypes. International Review of Child Neurology Series. London: Mac Keith Press; 2003. pp. 46-76.
44. Curatolo P, Bombardieri R, Verdecchia M, Seri S. Intractable seizures in tuberous sclerosis complex: from molecular pathogenesis to the rationale for treatment. J Child Neurol 2005; 20:318-325.
45. Curatolo P, Cusmai R. Magnetic resonance imaging in Bourneville's disease: relation to EEG. Neurophysiol Clin 1988; 18:459-467.
46. Cusmai R, Chiron C, Curatolo P, et al. Topographic comparative study of magnetic resonance imaging and electroencephalography in 34 children with tuberous sclerosis. Epilepsia 1990; 31:747-755.
47. Lachwani DK, Pestana E, Gupta A, et al. Identification of candidates for epilepsy surgery in patients with tuberous sclerosis complex. Neurology 2005; 64:1651-1654.
48. Kagawa K, Chugani DC, Asano E, et al. Epilepsy surgery outcome in children with tuberous sclerosis complex evaluated with alpha [11C] methyl-L-tryptophan positron emission tomography (PET). J Child Neurol 2005; 20:429-438.
49. Weiner HL, Carlson C, Ridgway EB, et al. Epilepsy surgery in young children with tuberous sclerosis: results of a novel approach. Pediatrics 2006; 117:1494-1502. •• Multistage surgical approach was used in identifying the primary and secondary epileptogenic zones in children with multiple cortical tubers.
50. Chandra PS, Salamon N, Huang J, et al. FDG-PET/MRI coregistration and diffusion tensor imaging distinguish epileptogenic tubers and cortex in patients with tuberous sclerosis complex: a preliminary report. Epilepsia 2006; 47:1543-1549. •• Larger volume of FDG-PET hypometabolism relative to the MRI tuber size and high apparent diffusion coefficient value were noted in epileptogenic tubers.
51. Jobe PC, Laird HE 2nd, Ko KH, et al. Abnormalities in monoamine levels in the central nervous system of the genetically epilepsy prone rat. Epilepsia 1982; 23:359-366.
52. Dailey JW, Mishra PK, Ko KH, et al. Serotonergic abnormalities in the central nervous system of seizure-naïve genetically epilepsy prone rats. Life Sci 1992; 50:319-326.
53. Louw D, Sutherland GR, Glavin GB, Girvin J. A study of monoamine metabolism in human epilepsy. Can J Neurol Sci 1989; 16:394-397.
54. Pintor M, Mefford IN, Hutter I, et al. Levels of biogenic amines, their metabolites, and tyrosine hydroxylase activity in human epileptic temporal cortex. Synapse 1990; 5:152-156.
55. Chugani DC, da Silva EA, Muzik O, et al. Abnormal serotonin synthesis in epileptic foci of children: an in vivo study with α methyltryptophan positron emission tomography. Epilepsy 1997; 38 (suppl 3):45-46; Abstract.
56. Chugani DC, Chugani HT, Muzik O, et al. Imaging epileptogenic tubers in children with tuberous sclerosis using α [C-11] methyl-L-tryptophan positron emission tomography. Ann Neurol 1998; 44:858-866.
57. Chugani HT, Chugani DC. Imaging of serotonin mechanisms in epilepsy. Epilepsy Curr 2005; 5:201-206.
58. Juhasz C, Chugani DC, Muzik O, et al. Alpha-methyl-L-tryptophan PET detects epileptogenic cortex in children with intractable epilepsy. Neurology 2003; 60:960-968.
59. Fedi M, Reutens DC, Andermann F, et al. Alpha [C-11] methyl-L-tryptophan PET identifies the epileptogenic tuber and correlates with interictal spike frequency. Epilepsy Res 2003; 52:203-213.
60. Sood S, Chugani HT. Functional neuroimaging in the preoperative evaluation of children with drug-resistant epilepsy. Childs Nerv Syst 2006; 22:810-820. •• This is a comprehensive review of the use of functional neuroimaging in the presurgical evaluation of children with intractable epilepsy.
61. Ida K, Otsubo H, Mohamed IS, et al. Characterizing magnetoencephalographic spike sources in children with tuberous sclerosis complex. Epilepsia 2005; 46:1510-1517.
62. Kamimura T, Tohyama J, Oishi M, et al. Magnetoencephalography in patients with tuberous sclerosis and localization-related epilepsy. Epilepsia 2006; 47:991-997. •• Using whole-head magnetoencephalography, spatial relation between the equivalent current dipoles of interictal spikes and the cortical tubers on MRI was analyzed. A subset of patients showed a single equivalent current dipole cluster around a single tuber.
63. Wu JY, Sutherling WW, Koh S, et al. Magnetic source imaging localizes epileptogenic zone in children with tuberous sclerosis complex. Neurology 2006; 66:1270-1272. •• The authors demonstrated that interictal MFG/magnetic source imaging has higher sensitivity and specificity than ictal video-EEG in identifying the epileptogenic zones in tuberous sclerosis complex.
64. Xiao Z, Xiang J, Holowka S, et al. Volumetric localization of epileptic activities in tuberous sclerosis using synthetic aperture magnetometry. Pediatr Radiol 2006; 36:16-21. •• The use of a MFG technique known as synthetic aperture magnetometry was found to have greater sensitivity than conventional dipole modeling in the detection of the multiple irritable zones in TSC.
65. Juhasz C, Chugani DC, Muzik O, et al. Electroclinical correlates of flumazenil and fluorodeoxyglucose PET abnormalities in lesional epilepsy. Neurology 2000; 55:825-835.