Paroxysmal Kinesigenic Dyskinesi a – a Case Report of a Yo ung Woman with Alternating Hemidystoni a
Authors:
H. Krijtová; P. Marusič
Authors place of work:
Neurologická klinika UK 2. LF a FN Motol, Praha
Published in the journal:
Cesk Slov Neurol N 2009; 72/105(4): 368-372
Category:
Case Report
Summary
Paroxysmal kinesigenic dyskinesi a is a ne urological disorder characterized by bri ef episodes of dystoni a and chore athetosis triggered by sudden voluntary movement. The attacks typically last less than one minute and may occur even several times a day. Besides famili ar idi opathic forms with a utosomal dominant inheritance, sporadic cases may occur, or symptomatic forms may be associ ated with some CNS dise ases and may manifest with the same type of paroxysms. At the beginning we revi ew current knowledge on this disorder, including the historical development of the concept of paroxysmal dyskinesi a. Then we present the case of a yo ung woman who has suffered from sporadic idi opathic paroxysmal kinesigenic dyskinesi a since she was 13 ye ars old. Di agnosis was proved during vide o- EEG monitoring and her paroxysms can be characterised as alternating hemidystoni a. She has been successfully tre ated with 300 mg of lamotrigine per day.
Key words:
paroxysmal dyskinesia – alternating hemidystonia
Zdroje
1. Kato N, Sadamatsu M, Kikuchi T, Niikawa N, Fukuyama Y. Paroxysmal kinesigenic chore o athetosis: from first discovery in 1892 to genetic linkage with benign famili al infantile convulsi ons. Epilepsy Res 2006; 70 (Suppl 1): S174– S184.
2. Demirkiran M, Jankovic J. Paroxysmal dyskinesi as: clinical fe atures and classificati on. Ann Ne urol 1995; 38(4): 571– 579.
3. Scheffer IE, Bhati a KP, Lopes- Cendes I, Fish DR, Marsden CD, Andermann F et al. Autosomal dominant frontal epilepsy misdi agnosed as sleep disorder. Lancet 1994; 343(8896): 515– 517.
4. Bhati a KP. Famili al (idi opathic) paroxysmal dyskinesi as: an update. Semin Ne urol 2001; 21(1): 69– 74.
5. Guerrini R. Idi opathic epilepsy and paroxysmal dyskinesi a. Epilepsi a 2001; 42 (Suppl 3): 36– 41.
6. Raini er S, Thomas D, Tokarz D, Ming L, Bui M, Plein Eet al. Myofibrillogenesis regulator 1 gene mutati ons ca use paroxysmal dystonic chore o athetosis. Arch Ne urol 2004; 61(7): 1025– 1029.
7. Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D et al. Paroxysmal exercise‑induced dyskinesi a and epilepsy is due to mutati ons in SLC2AI, encoding the glucose transporter GLUTI. Brain 2008; 131(7): 1831– 1844.
8. Rochette J, Roll P, Szepetowski P. Genetics of infantile seizures with paroxysmal dyskinesi a: the infantile convulsi ons and chore o athetosis (ISSA) and ICCA‑related syndromes. J Med Genet 2008; 45(12): 773– 779.
9. Bruno MK, Hallett M, Gwin‑Hardy K, Sorensen B, Considine E, Tucker S et al. Clinical evalu ati on of idi opathic paroxysmal kinesigenic dyskinesi a: new di agnostic criteri a. Ne urology 2004; 63(12): 2280– 2287.
10. Tomita H, Nagamitsu S, Wakui K, Fukushima Y,Yamada K, Sadamatsu M et al. Paroxysmal kinesigenic chore o athetosis locus maps to chromosome 16p11.2- q12.1. Am J Hum Genet 1999; 65(6): 1688– 1697.
11. Du T, Feng B, Wang X, Mao W, Zhu X, Li L et al. Localizati on and mutati on detecti on for paroxysmal kinesigenic chore o athetosis. J Mol Ne urosci 2008; 34(2): 101– 107.
12. Kikuchi T, Nomura M, Tomita H, Harada N, Kanai K,Konishi T et al. Paroxysmal kinesigenic chore o athetosis (PKC): confirmati on of linkage to 16p11- q21, but unsuccessful detecti on of mutati ons among 157 genes at the PKC- critical regi on in seven PKC famili es. J Hum Genet 2007; 52(4): 334– 341.
13. Valente EM, Spacey SD, Wali GM, Bhati a KP, Dixon PH, Wo od NW et al. A second paroxysmal kinesigenic chore o athetosis locus (EKD2) mapping on 16q13- q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain 2000; 123(10): 2040– 2045.
14. Spacey SD, Valente EM, Wali GM, Warner TT, Jarman PR, Schapira AH et al. Genetic and clinical heterogeneity in paroxysmal kinesigenic chore o athetosis: evidence for a third EKD gene. Mov Disord 2002; 17(4): 717– 725.
15. Caraballo R, Pavek S, Lemainque A, Gastaldi M, Echenne B, Motte J et al. Linkage of benign famili al infantile convulsi ons to chromosome 16p12- q12 suggests allelism to the infantile convulsi ons and chore o athetosis syndrome. Am J Hum Genet 2001; 68(3): 788- 794.
16. Blakeley J, Jankovic J. Secondary ca uses of paroxysmal dyskinesi a. Adv Ne urol 2002; 89: 401– 420.
17. Bonev VI, Gledhill RF. Paroxysmal kinesigenic chore o athetosis beca use of cryptogenic myelitis. Remissi on with carbamazepine and the pathogenetic role of altered sodi um channels. Eur J Ne urol 2002; 9(5): 517– 520.
18. Rollnik JD, Winkler T, Ganser A. A case of symptomatic paroxysmal kinesigenic dyskinesi a with primary central nervo us system lymphoma. Nervenarzt 2003; 74(4): 362– 365.
19. Zorzi G, Conti C, Erba A, Granata T, Angelini L, Nardocci N. Paroxysmal dyskinesi as in childho od. Pedi atr Ne urol 2003; 28(3): 168– 172.
20. Baba Y, Wszolek ZK, Normand MM. Paroxysmal kinesigenic chore o athetosis associ ated with central pontine myelinolysis. Parkinsonism Relat Disord 2003; 10(2): 113.
21. Mahmud FH, Linglart A, Bastepe M, Jüppner H, Lteif AN. Molecular di agnosis of pse udohypoparathyre o idism type 1b in a family with presumed paroxysmal dyskinesi a. Pedi atrics 2005; 115(2): 242– 244.
22. Jo o EY, Hong SB, Tae WS, Kim JH, Han SJ, Se o DW et al. Perfusi on abnormality of the ca udate nucle us in pati ents with paroxysmal kinesigenic chore o athetosis. Eur J Nucl Med Mol Imaging 2005; 32(10): 1205– 1209.
23. Shirane S, Sasaki M, Kogure D, Matsuda H, Hashimoto T. Incre ased ictal perfusi on of the thalamus in paroxysmal kinesigenic dyskinesi a. J Ne urol Ne urosurg Psychi atry 2001; 71(3): 408– 410.
24. Ko CH, Kong CK, Ngai WT, Ma KM. Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic chore o athetosis. Pedi atr Ne urol 2001; 24(3): 225– 227.
25. Mir P, Hu ang YZ, Gili o F, Edwards MJ, Berardelli A,Rothwell JC et al. Abnormal cortical and spinal inhibiti on in paroxysmal kinesigenic dyskinesi a. Brain 2005; 128(2): 291– 299.
26. Fo urcade G, Ro uberti e A, Do ummar D, Vidailhet M, Laba uge P. Paroxysmal kinesigenic dyskinesi a: a channelopathy? Study of 19 cases. Rev Ne urol (Paris) 2009; 165(2): 164– 169.
27. Gökçay A, Gökçay F. Oxcarbazepine therapy in paroxysmal kinesigenic chore o athetosis. Acta Ne urol Scand 2000; 101(5): 344– 345.
28. Uberall MA, Wenzel D. Effectiveness of lamotrigine in children with paroxysmal kinesigenic chore o athetosis. Dev Med Child Ne urol 2000; 42(10): 699– 700.
29. Hu ang YG, Chen YC, Du F, Li R, Xu GL, Ji ang Wet al. Topiramate therapy for paroxysmal kinesigenic chore o athetosis. Mov Disord 2005; 20(1): 75– 77.
30. Vignal JP, Biraben A, Cha uvel PY, Re utens DC. Reflex parti al seizures of sensorimotor cortex (including cortical reflex myoclonus and startle epilepsy). Adv Ne urol 1998; 75: 207– 226.
31. Ho user MK, Soland VL, Bhati a KP, Quinn NP, Marsden CD. Paroxysmal kinesigenic chore o athetosis: a report of 26 pati ents. J Ne urol 1999; 246(2): 120– 126.
32. Cuenca- Le on E, Cormand B, Thomson T, Macaya A.Paroxysmal kinesigenic dyskinesi a and generalised: clinical and genetic analysis in a Spanish pedigree. Ne uropedi atrics 2002; 33(6): 288– 293.
Štítky
Paediatric neurology Neurosurgery NeurologyČlánok vyšiel v časopise
Czech and Slovak Neurology and Neurosurgery
2009 Číslo 4
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