Синдром Снеддона

Приведен клинический случай рецидивирующих острых нарушений мозгового кровообращения у больного молодого возраста, которому диагностирован синдром Снеддона. У пациента выявлены полиморфизмы генов: гомозиготный 4G/5G – в гене ингибитора активатора плазминогена-1 (PAI-1), С807Т – в гене гликопротеина I (GpIa), Т1565С – в гене гликопротеина III (GpIIIа), G1639A – в гене эпоксидредуктазы витамина К (VKORC1), – а также повышение уровня гомоцистеина, которые являлись факторами риска тромбоза.

1. Ehrmann S. Ein neues Gefassymptom bei Lues. Wien Med Wochenschr. 1907;(16):777-782.

2. Kimming J. Arteriolopathie: Livedo rasemosa. Dermatol Wochenschr. 1959;139:211.

3. Champion RH, Rook A. Cutaneous arteriolitis. Proc R Soc Med. 1960;53:568.

4. Sneddon IB. Cerebro-vascular lesions and livedo reticularis. Br J Dermatol. 1965;77:180-185. doi: 10.1111/j.1365-2133.1965.tb14628.x

5. Rumpl E, Rumpl H. Recurrent transient global amnesia in a case with cerebrovascular lesions and livedo reticularis (Sneddon syndrome). J Neurol. 1979;221(2):127-131. doi: 10.1007/BF00313110

6. Bottin L, Frances C, de Zuttere D, Boёlle PY, Muresan IP, Alamowitch S. Strokes in Sneddon syndrome without antiphospholipid antibodies. Ann Neurol. 2015;77(5):817-829. doi: 10.1002/ana.24382

7. Zelger B, Sepp N, Stockhammer G, Dosch E, Hilty E, Ofner D, et al. Sneddon’s syndrome. A long-term follow-up of 21 patients. Arch Dermatol. 1993;129(4):437-447. doi: 10.1001/archderm.129.4.437

8. Berciano J. Sneddon syndrome: Another Mendelian etiology of stroke. Ann Neurol. 1988;24(4):586-587. doi: 10.1002/ana.410240422

9. Villaizán C, Ferrada MJ, Legarda I, Iriarte J, Narbona J, Martínez-Lage JM. Vasculopatía asociada a anticuerpos antifosfolípido. Síndrome de Sneddon en la niñez. Neurologia. 1995;10(1):41-45.

10. Francès C, Papo T, Wechsler B, Laporte JL, Biousse V, Piette JC. Sneddon syndrome with or without antiphospholipid antibodies. A comparative study in 46 patients. Medicine (Baltimore) 1999;78(4):209-219. doi: 10.1097/00005792-199907000-00001

11. Bolayir E, Yilmaz A, Kugu N, Erdogan H, Akyol M, Akyuz A. Sneddon’s syndrome: Clinical and laboratory analysis of 10 cases. Acta Med Okayama. 2004;58(2):59-65. doi: 10.18926/AMO/32100

12. Kume M. Imai H., Motegi M, Miura AB, Namura I. Sneddon’s syndrome (livedo racemosa and cerebral infarction) presenting psychiatric disturbance and shortening of fingers and toes. Intern Med. 1996;35(8):668-673. doi: 10.2169/internalmedicine.35.668

13. Charles PD, Fenichel GM. Sneddon and antiphospholipid antibody syndromes causing bilateral thalamic infarction. Pediatr Neurol. 1994;10(3):262-263. doi: 10.1016/0887-8994(94)90037-x

14. Szmyrka-Kaczmarek M, Daikeler T, Benz D, Koetter I. Familial inflammatory Sneddon’s syndrome – Case report and review of the literature. Clin Rheumatol. 2005;24(1):79-82. doi: 10.1007/s10067-004-0981-9

15. Hademenos GJ, Alberts MJ, Awad I, Mayberg M, Shepard T, Jagoda A, et al. Advances in the genetics of cerebrovascular disease and stroke. Neurology. 2001;56(8):997-1008. doi: 10.1212/wnl.56.8.997

16. Rebollo M, Val JF, Garijo F, Quintana F, Berciano J. Livedo reticularis and cerebrovascular lesions (Sneddon’s syndrome). Clinical, radiological and pathological features in eight cases. Brain. 1983;106(4):965-979. doi: 10.1093/brain/106.4.965

17. Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370(10):911-920. doi: 10.1056/NEJMoa1307361

18. Meyts I, Aksentijevich I. Deficiency of adenosine deaminase 2 (DADA2): Updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol. 2018;38(5):569-578. doi: 10.1007/s10875-018-0525-8

19. Wu S, Xu Z, Liang H. Sneddon’s syndrome: A comprehensive review of the literature. Orphanet J Rare Dis. 2014;9:215. doi: 10.1186/s13023-014-0215-4

20. Daoud MS, Wilmoth GJ, Su WP, Pittelkow MR. Sneddon syndrome. Semin Dermatol. 1995;14(2):166-172. doi: 10.1016/s1085-5629(05)80014-8

21. Schlez A, Lischka G, Schaumburg-Lever G, Ganter T, Jünger M. Raynaud symptoms as principal signs in a case of Sneddon’s syndrome. J Eur Acad Dermatol Venereol. 2001;15(4):365-366.

22. Heckmann JG, Lufti M. Images in clinical medicine. Angiomatosis associated with Sneddon’s syndrome. N Engl J Med. 2004;350(12):11. doi: 10.1056/ENEJMicm020035

23. Lipsker D, Piette JC, JL, Maunoury L, Francès C. Annular atrophic lichen planus and Sneddon’s syndrome. Dermatology. 1997;195(4):402-403. doi: 10.1159/000245999

24. Калашникова ЛА. Неврология антифосфолипидного синдрома. М.:Медицина;2003.

25. Tourbah A, Piette JC, Iba-Zizen MT, Lyon-Caen O, Godeau P, Francès C. The natural course of cerebral lesions in Sneddon syndrome. Arch Neurol. 1997;54(1):53-60. doi: 10.1001/archneur.1997.00550130037013

26. Adair JC, Digre KB, Swanda RM, Hartshorne MF, Lee RR, Constantino TM, et al. Sneddon’s syndrome: A cause of cognitive decline in young adults. Neuropsychiatry Neuropsychol Behav Neurol. 2001;14(3):197-204.

27. Devuyst G, Sindic C, Laterre EC, Brucher JM. Neuropathological findings of a Sneddon’s syndrome presenting with dementia not preceded by clinical cerebrovascular events. Stroke. 1996;27(5): 1008-1010.

28. Wright RA, Kokmen E. Gradually progressive dementia without discrete cerebrovascular events in a patient with Sneddon’s syndrome. Mayo Clin Proc. 1999;74(1):57-61. doi: 10.4065/74.1.57

29. Hsu FF, Chung KH. Psychosis with suicide attempt in Sneddon syndrome. Psychiatry Clin Neurosci. 2017;71(2):147-148. doi: 10.1111/pcn.12489

30. Pauranik A, Parwani S, Jain S. Simultaneous bilateral central retinal arterial occlusion in a patient with Sneddon syndrome: Case history. Angiology. 1987;2(Pt 1):158-163. doi: 10.1177/000331978703800211

31. Aggermann T, Haas P, Binder S. Central retinal vein occlusion as a possible presenting manifestation of Sneddon syndrome. J Neuroophthalmol. 2007;27(3):240-241. doi: 10.1097/WNO.0b013e31814b259f

32. Насонов ЕЛ. Антифосфолипидный синдром. М.:Литтерра;2004.

33. Starmans NLP, van Dijk MR, Kappelle LJ, Frijns CJM. Sneddon syndrome: A comprehensive clinical review of 53 patients. J Neurol. 2021;268(7):2450-2457. doi: 10.1007/s00415-021-10407-x

34. Besnier R, Frances C, Ankri A, Aiach M, Piette JC. Factor V Leiden mutation in Sneddon syndrome. Lupus. 2003;12(5):406-408. doi: 10.1191/0961203303lu386sr

35. Donnet A, Khalil R, Terrier G, Koeppel MC, Njee BT, Aillaud MF. Cerebral infarction, livedo reticularis, and familial deficiency in antithrombin-III. Stroke. 1992;23(4):611-612.

36. Kalashnikova LA, Korczyn AD, Shavit S, Rebrova O, Reshetnyak T, Chapman J. Antibodies to prothrombin in patients with Sneddon’s syndrome. Neurology. 1999;53(1):223-225. doi: 10.1212/wnl.53.1.223

37. Sayin R, Bilgili SG, Karadag AS, Tombul T. Sneddon syndrome associated with protein S deficiency. Indian J Dermatol Venereol Leprol. 2012;78(3):407. doi: 10.4103/0378-6323.95483

38. Forchhammer S, Metzler G, Ghoreschi K. Long-term follow-up of early-onset Sneddon syndrome: A case report. JAAD Case Rep. 2018;4(9):880-882. doi: 10.1016/j.jdcr.2018.08.008