Neurocutaneous syndromes and epilepsy - Issues in diagnosis and management

Epilepsia

Volumn 46, Issue SUPPL. 10, 2005, Pages 17-23

  Cross, J Helen ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Epilepsy; Neurocutaneous Syndromes; Neurofibromatosis; Pigmentation disorders; Proteus syndrome; Sturge Weber syndrome; Tuberous sclerosis

Indexed keywords

ANTICONVULSIVE AGENT; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; TOPIRAMATE; VIGABATRIN; DIAGNOSTIC AGENT; GADOLINIUM;

AUTOSOMAL DOMINANT DISORDER; BRAIN MALFORMATION; CLINICAL FEATURE; CONFERENCE PAPER; DISEASE ASSOCIATION; EPILEPSY; HUMAN; HYPOMELANOSIS; LEARNING DISORDER; MULTIPLE CANCER; NEUROFIBROMATOSIS; NEVUS UNIUS LATERIS; ONSET AGE; PHAKOMATOSIS; PREVALENCE; PRIORITY JOURNAL; SEIZURE; STURGE WEBER SYNDROME; TUBEROUS SCLEROSIS; VISUAL FIELD DEFECT; AGE; BRAIN; CHILD; COMORBIDITY; COMPARATIVE STUDY; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL MALFORMATION; ELECTROENCEPHALOGRAPHY; INFANT; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PROGNOSIS; REVIEW; STATISTICS;

AGE FACTORS; BRAIN; CHILD; COMORBIDITY; ELECTROENCEPHALOGRAPHY; EPILEPSY; GADOLINIUM; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; NEUROCUTANEOUS SYNDROMES; PREVALENCE; PROGNOSIS; PROTEUS SYNDROME; TOMOGRAPHY, X-RAY COMPUTED; TUBEROUS SCLEROSIS;

EID: 33644803980     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2005.00353.x     Document Type: Conference Paper

References (54)

1. Roach ES, Gomez MR, Northrup H. Tuberous Sclerosis Complex Consensus Conference: revised clinical diagnostic criteria. J Child Neurol 1998;13:624-8.
2. Curatolo P, Verdecchia M, Bombardieri R. Tuberous sclerosis complex: a review of neurological aspects. Eur J Paediatr Neurol 2002;6:15-23.
3. Dabora SL, Jozwiak S, Franz DN. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared to TSC1, disease in multiple organs. Am J Hum Genet 2001;68:64-80.
4. Jozwiak S, Kwiatkowski D, Kasprzyk-Obara J, et al. Epilepsy and especially infantile spasms are more frequent among patients with TSC2 mutations. J Child Neurol 2001;16:275.
5. Jozwiak S, Schwartz RA, Janniger CK, et al. Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol 2000;15:652-9.
6. Webb DW, Fryer AE, Osborne JP. Morbidity associated with tuberous sclerosis: a population study. Dev Med Child Neurol 1996;38:146-55.
7. Sparagana SP, Delgado MR, Batchelor LL, et al. Seizure remission and antiepileptic drug discontinuation in children with tuberous sclerosis complex. Arch Neurol 2003;60:1286-9.
8. Webb DW, Fryer AE, Osborne JP. On the incidence of fits and mental retardation in tuberous sclerosis. J Med Genet 1991;28:395-7.
9. Joinson C, O'Callaghan FJ, Osborne JP, et al. Learning disability in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med 2003;33:335-44.
10. O'Callaghan FJ, Harris T, Joinson C, et al. The relation of infantile spasms, tubers and intelligence in tuberous sclerosis complex. Arch Dis Child 2004;89:530-3.
11. Bolton PF, Park RJ, Higgins NP, et al. Neuroepileptic determinants of autistic spectrum disorder in tuberous sclerosis complex. Brain 2002;125:1247-55.
12. Taylor DC, Neville BGR, Cross JH. Autistic spectrum disorders in childhood epilepsy surgery candidates. Eur J Adolesc Psychiatr 1999;8:189-92.
13. Mclellan A, Davies S, Heyman I, et al. Psychopathology in children undergoing temporal lobe resection for the treatment of epilepsy - a pre and post-operative assessment. Dev Med Child Neurol 2005;47:666-72.
14. Hancock E, Osborne JP. Vigabatrin in the treatment of infantile spasms in tuberous sclerosis: literature review. J Child Neurol 1999;14:71-4.
15. Jambaque I, Chiron C, Dumas C, et al. Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients. Epilepsy Res 2000;38:151-60.
16. Vanhatalo S, Nousianen I, Eriksson K, et al. Visual field constriction in 91 Finnish children treated with vigabatrin. Epilepsia 2002;43:748-56.
17. Franz DN, Tudor C, Leonard J. Topiramate as therapy for tuberous sclerosis complex-associated seizures. Epielpsia 2000;41:87.
18. Bebin EM, Kelly PJ, Gomez MR. Surgical treatment for epilepsy in cerebral tuberous sclerosis. Epilepsia 1993;34:651-7.
19. Guerreiro M, Andermann F, Andermann E, et al. Surgical treatment of epilepsy in tuberous sclerosis. Neurology 1998;51:1263-9.
20. Koh S, Jayakar P, Resnick T, et al. The localising value of ictal SPECT in children with tuberous sclerosis complex and refractory partial epilepsy. Epileptic Disord 1999;1:41-6.
21. Karenfort M, Kruse B, Freitag H, et al. Epilepsy surgery outcome in children with focal epilepsy due to tuberous sclerosis complex. Neuropadiatrie 2002;33:255-61.
22. Koh S, Jayakar P, Dunoyer C, et al. Epilepsy surgery in children with tuberous sclerosis complex: presurgical evaluation and outcome. Epilepsia 2000;41:1206-13.
23. Jansen FE, Braun KPJ, Van Nieuwenhuizen O, et al. Diffusion-weighted magnetic resonance imaging and identification of the epileptogenic tuber in patients with tuberous sclerosis. Arch Neurol 2003;60:1580-4.
24. Chugani DC, Chugani HT, Muzik O, et al. Imaging epileptogenic tubers in children with tuberous sclerosis complex using α[11C] methyl-L-tryptophan positron emission computed tomography. Ann Neurol 1998;44:858-66.
25. Fedi M, Reutens DC, Andermann F, et al. α-[11C]-methyl-L-tryptophan PET identifies the epileptogenic tuber and correlates with interictal spike frequency. Epilepsy Res 2002;52:203-13.
26. Asano E, Chugani DC, Muzik O, et al. Multimodality imaging for improved detection of epileptogenic foci in tuberous sclerosis complex. Neurology 2000;54:1976-84.
27. Lachhwani DK, Pestana E, Gupta AK, et al. Identification of candidates for surgery for epilepsy due to tuberous sclerosis. Neurology 2005;(in press).
28. Jarrar RG, Buchhalter JR, Raffel C. Long-term outcome of epilepsy surgery in patients with tuberous sclerosis. Neurology 2004;62:479-81.
29. Bebin EM, Gomez MR. Prognosis in Sturge-Weber disease: comparison of unihemispheric and bihemispheric involvement. J Child Neurol 1992;3:181-4.
30. Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 1995;57:35-45.
31. Arzimanoglou A, Aicardi J. The epilepsy of Sturge-Weber syndrome: clinical features and treatment in 23 patients. Acta Neurol Scand Suppl 1992;140:18-22.
32. Maria BL, Neufeld JA, Rosainz LC, et al. Central nervous system structure and function in Sturge Weber Syndrome: evidence of neurologic and radiologica progression. J Child Neurol 1998;13:606-18.
33. Castroviejo IP, Diaz Gonzalez CD, Munoz-Hiraldo E. Sturge Weber syndrome: a study of 40 patients. Pediatr Neurol 1993;9:283-7.
34. Benedikt RA, Brown DC, Walker R, et al. Sturge-Weber syndrome: cranial MR imaging with Gd-DTPA. Am J Neurorad 1993;14:409-15.
35. Jacoby CG, Ruh WTC, Afifi AK, et al. Accelerated myelination in early Sturge-Weber syndrome demonstrated by MR imaging. J Comput Assist Tomogr 1987;11:226-31.
36. Chiron C, Raynaud C, Tzourio N, et al. Regional cerebral blood flow by SPECT imaging in Sturge-Weber disease: an aid for diagnosis. J Neurol Neurosurg Psychiatry 1989;52:1402-9.
37. Lee JS, Asano E, Muzik O, et al. Sturge Weber syndrome: correlation between clinical course and FDG PET findings. Neurology 2001;57:189-95.
38. Gurecki P, Holden K, Sahn EE, et al. Developmental neural abnormalities and seizures in epidermal nevus syndrome. Dev Med Child Neurol 1996;38:716-23.
39. Pavonne L, Curatolo P, Rizzo R, et al. Epidermal nevus syndrome: a neurologic variant with hemimegalancephaly, gyral malformation, mental retardation, seizures and facial hemihypertrophy. Neurology 1991;41:266-71.
40. Ito M. Studies of melanin XI. Incontinentia pigmenti achromians, a singular case of naevus depigmentosis systematicus bilateralis. Tohoku J Exp Med 1952;55:s57-s59.
41. Yang JH, Sy M, Tsai CH. Destructive encephalopathy in incontinentia pigmenti: a case report. J Dermatol 1995;22:340-3.
42. Hennel SJ, Ekert PG, Volpe JJ, et al. Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr Neurol 2003;29:148-50.
43. Pascual-Castroviejo I, Roche MC, Fernandez VM, et al. Incontinentia pigmenti: MR demonstration of brain changes. AJNR Am J Neuroradiol 1994;15:1521-7.
44. Arun D, Gutmann DH. Recent advances in neurofibromatosis 1. Curr Opin Neurol 2004;17:101-5.
45. Vivarelli R, Grosso S, Calabrese F, et al. Epilepsy in neurofibromatosis 1. J Child Neurol 2003;18:338-42.
46. Kulkantrakorn K, Geller T. Seizures in neurofibromatosis 1. Pediatr Neurol 1998;19:347-50.
47. North KN. Clinical aspects of neurofibromatosis 1. Eur J Paediatr Neurol 1998;2:223-31.
48. Shen MH, Harper PS, Upadhyaya M. Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet 1996;33:2-17.
49. Arun D, Gutmann DH. Recent advances in neurofibromatosis type 1. Curr Opin Neurol 2004;17:101-5.
50. Hyman SL, Gill DS, Shores EA, et al. Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1. Neurology 2003;60:1139-45.
51. Cardoso MT, de Caevalho TB, Casulari LA, et al. Proteus syndrome and somatic mosaicism of the chromosome 16. Panminerva Med 2003;45:267-71.
52. Griffiths PD, Welch RJ, Gardner-Medwin D, et al. The radiological features of hemimegalancephaly including three cases with proteus syndrome. Neuropediatrics 1994;25:140-4.
53. Dietrich RB, Glidden DE, Roth GM, et al. The Proteus syndrome: CNS manifestations. AJNR Am J Neuroradiol 1998;19:987-90.
54. Mclellan A, Parmeggiani L, Chong WK, et al. The spectrum of hemimegalancephaly - a clinical, neurophysiological and neuroradiological overview. Dev Med Child Neurol 2003;45:7.