Stiff-person syndrome with early onset in infancy
https://doi.org/10.17650/2222-8721-2015-5-2-38-43
Abstract
The case of stiff-person syndrome with benign course in 16-years old patient is presented. The initial clinical signs of the disease were observed in infancy with retarded development of motor functions and skeleton muscle lumps. The diagnosis was made using generally accepted clinical and electromyographical criteria. Aspects of differential diagnosis, pathogenesis and clinical course polymorphism in early-onset cases of the disease are discussed.
About the Authors
S. A. Malmberg
Department of Clinical Physiology and Functional Diagnosis of Institute of Advanced Training at FMBA of Russia
Russian Federation
20, Moskvorechye Str., Moscow, 115409, Russia. Federal State Budget Healthcare Institution “Central Children Clinical Hospital” at FMBA of Russia
Russian Federation
20, Moskvorechye Str., Moscow, 115409, Russia. Federal State Budget Healthcare Institution “Central Children Clinical Hospital” at FMBA of Russia
E. L. Dadali
Federal State Budget Research Institution “Research Centre of Medical Genetics”
Russian Federation
1, Moskvorechye Str., Moscow, 115478
Russian Federation
1, Moskvorechye Str., Moscow, 115478
D. B. Jumakchanov
National Research Center for Maternal and Child Health
Kazakhstan
32, pr. Turan, Astana
Kazakhstan
32, pr. Turan, Astana
A. Kch. Djaksibaeva
National Research Center for Maternal and Child Health
Kazakhstan
32, pr. Turan, Astana
Kazakhstan
32, pr. Turan, Astana
References
1. Зиновьева О.Е., Катушкина Э.А., Мозолевский Ю.В. и др. Синдром ригидного человека: вопросы патогенеза и лечения. Неврол журн 2009;(1):11–17. [Zinovyeva O.E., Katushkina E.A., Mozolevsky Y.V. et al. Stiff-man syndrome: considerations of pathogenic mechanism and treatment. Nevrologicheskiy journal = Journal of Neurology 2009;(1):11–17. (In Russ.)].
2. Левин О.С. Синдром ригидного человека. Экстрапирамидные расстройства: Руководство по диагностике и лечению. Под ред. В.Н. Штока, И.А. ИвановойСмоленской, О.С. Левина. М.: Медпресс-информ, 2002. С. 435–444. [Levin O.S. Stiff-man syndrome. Extrapyramidal disorders: Guideline on diagnosis and treatment. Edited by V.N. Shtok, I.A. Ivanova-Smolenskaya, O.S. Levin. М.: Medpress-inform, 2002. p. 435–444. (In Russ.)].
3. Яхно Н.Н., Голубева В.В., Мозолевский Ю.В. и др. Синдром ригидного человека с глазодвигательными и мозжечковыми нарушениями. Анналы клин и эксперим неврологии 2007;(4): 15–22. [Yakhno N.N., Golubeva V.V., Mozolevsky Y.V. et al. Stiff-man syndrome with oculomotor and cerebellar disorders. Annali clinicheskoy i experimentalnoy nevrologii = Annals of clinical and experimental neurology 2007;(4):15–22. (In Russ.)].
4. Clardy S.L., Lennon V.A., Dalmau J. et al. Childhood onset of stiff-man syndrome. JAMA Neurol 2013;12:1531–6.
5. Garzo C., Pйrez-Sotelo M., Traba A. et al. Stiff-man syndrome in a child. Mov Disord 1998;13(2):365–8.
6. Markandeyulu V., Joseph T.P., Solomon T. et al. Stiff-man syndrome in childhood. J R Soc Med 2001;94(6):296–7.
7. Udani V.P., Dharnidharka V.R., Gajendragadkar A.R., Udani S.V. Sporadic Stiff man syndrome in a young girl. Pediatr Neurol 1997;17(1):58–60.
8. Fiol M., Cammarota A., Rivero A. et al. Focal stiff-person syndrome. Neurologia 2001;16(2):89–91.
9. Hajjioui A., Benbouazza K., Faris Mel A. et al. Stiff limb syndrome: a case report. Cases J 2010;12(3):60.
10. Lorenzoni P.J., Scola R.H., Kay C.S. et al. Electrophysiological characteristics in four patients from Brazil with stiff person syndrome. J Clin Neurosci 2012;6:889–91.
11. Мальмберг С.А. Торсионная дистония в детском возрасте. Неврол журн 1997;(6): 23–9. [Malmberg S.A. Torsion dystonia in childhood. Nevrologicheskiy journal = Journal of neurology 1997;(6):23–9. (In Russ.)].
12. Koca I., Ucar M., Kalender M.E., Alkan S. The horses are the first thought but one must not forget the zebras even if they are rare: Stiff person syndrome associated with malignant mesothelioma. BMJ Case Rep 2014; Apr 7; bcr2013203455.
13. Kelly P.A., Kuberski C. Stiff person syndrome: a case report. Clin J Oncol Nurs 2014;4:465–7.
14. Enuh H., Park M., Ghodasara A. et al. Stiff man syndrome: a diagnostic dilemma in a young female with diabetes mellitus and thyroiditis. Clin Med Insights Case Rep 2014;7:139–41.
15. Szücs A., Barcs G., Winkler G. et al. Anti glutamate-decarboxylase antibodies: a liaison between localisation related epilepsy, stiffperson syndrome and type-1 diabetes mellitus. Ideggyogy Sz 2014;67(7–8):269–71.
16. Gresa-Arribas N., Ariсo H., MartánezHernбndez E. et al. Antibodies to inhibitory synaptic proteins in neurological syndromes associated with glutamic acid decarboxylase autoimmunity. PLoS One 2015;16;10(3): e0121364. doi: 10.1371/journal.pone.0121364.
17. Sanefuji M., Torisu H., Kira R. et al. A case of childhood stiff-person syndrome with striatal lesions: a possible entity distinct from the classical adult form. Brain Dev 2013;35(6):575–8.
Review
For citations:
Malmberg S.A., Dadali E.L., Jumakchanov D.B., Djaksibaeva A.K. Stiff-person syndrome with early onset in infancy. Neuromuscular Diseases. 2015;5(2):38-43. (In Russ.) https://doi.org/10.17650/2222-8721-2015-5-2-38-43
Views:
2243
Email this article 