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Синдром ригидного человека с миоклонусом и дизавтономией: описание случая
Сердюк А.В., Ковражкина Е.А. Синдром ригидного человека с миоклонусом и дизавтономией: описание случая. Consilium Medicum. 2017; 19 (9): 65–68. DOI: 10.26442/2075-1753_19.9.65-68
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Serdyuk A.V., Kovrazhkina E.A. The syndrome of a rigid person with myoclonus and disautonomy: a description of the case. Consilium Medicum. 2017; 19 (9): 65–68. DOI: 10.26442/2075-1753_19.9.65-68
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Аннотация
Синдром ригидного человека – редкое аутоиммунное заболевание, которое характеризуется прогрессирующей мышечной ригидностью, нарушениями ходьбы и болезненными спазмами в аксиальных мышцах и конечностях, провоцируемыми внешними стимулами. Синдром имеет разную клиническую феноменологию, может проявляться миоклонусом, вегетативными и эмоциональными расстройствами, сочетаться с эпилепсией и дистонией, нейроофтальмологическими проявлениями. Патогенез синдрома связан с нарушением ГАМКергической трансмиссии в результате взаимодействия специфических антител c глутаматдекарбоксилазой (glutamate decarboxylase) – ферментом, участвующим в синтезе g-аминомасляной кислоты. С учетом патогенеза в лечении данного заболевания применяют ГАМКергические препараты (диазепам в высоких дозах и др.) и иммуносупрессивную терапию. Приводим собственное наблюдение пациентки с атипично протекающим синдромом ригидного человека.
Ключевые слова: синдром ригидного человека, глутаматдекарбоксилаза, иммуносупрессивная терапия, дизавтономия, клинический случай.
Ключевые слова: синдром ригидного человека, глутаматдекарбоксилаза, иммуносупрессивная терапия, дизавтономия, клинический случай.
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The syndrome of a rigid person is a rare autoimmune disease characterized by progressive muscular rigidity, walking disorders and painful spasms in axial muscles and limbs provoked by external stimuli. The syndrome has a different clinical phenomenology, it can be manifested by myoclonus, vegetative and emotional disorders, combined with epilepsy and dystonia, and neuro-ophthalmologic manifestations. The pathogenesis of the syndrome is associated with a violation of GABAergic transmission as a result of the interaction of specific antibodies with glutamate decarboxylase (glutamate decarboxylase), an enzyme involved in the synthesis of g-aminobutyric acid. Taking into account the pathogenesis in the treatment of this disease, GABAergic drugs (diazepam in high doses, etc.) and immunosuppressive therapy are used. We give our own observation of a patient with an atypically occurring syndrome of a rigid person.
Key words: syndrome of rigid man, glutamate decarboxylase, immunosuppressive therapy, disautonomy, clinical case.
Полный текст
Список литературы
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11. Holmoy T, Geis C. The immunological basis for treatment of stiff person syndrome. J Neuroimmunol 2011; 231: 55–60.
12. McKeon A, Martinez-Hernandez E, Lancaster E et al. Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype. JAMA Neurol 2011; 70 (1): 44–50.
13. Carvajal-González A, Leite MI, Waters P et al. Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes. Brain 2014; 137 (8): 2178–92.
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2. Meinck HM, Ricker K, Hulser PJ, Solimena M. Stiff man syndrome: neurophysiological findings in eight patients. J Neurol 1995; 242 (3): 134–42.
3. Shaw PJ. Stiff-man syndrome and its variants. Lancet 1999; 353 (9147): 86–7.
4. Brown P, Marsden CD. The stiff man and stiff man plus syndromes. J Neurol 1999; 246 (8): 648–52.
5. Saiz A, Blanco Y, Sabater L et al. Spectrum of neurological syndromes associated with glutamic acid decarboxylase antibodies: diagnostic clues for this association. Brain 2008; 131 (Pt. 10): 2553–63.
6. Tohid H. Anti-glutamic acid decarboxylase antibody positive neurological syndromes. Neurosci (Riyadh) 2016; 21 (3): 215–22.
7. Sarva H, Deik A, Ullah A, Severt WL. Clinical spectrum of stiff person syndrome: areview of recent reports. Tremor Other Hyperkinet Mov (NY) 2016; 6: 340.
8. Краснов М.Ю., Павлов Э.В., Ершова М.В. и др. Спектр неврологических синдромов, ассоциированных с антителами к глутамат-декарбоксилазе. Анналы неврологии. 2015; 4: 37–41. / Krasnov M.Iu., Pavlov E.V., Ershova M.V. i dr. Spektr nevrologicheskikh sindromov, assotsiirovannykh s antitelami k glutamat-dekarboksilaze. Annaly nevrologii. 2015; 4: 37–41. [in Russian]
9. Keon A, Tracy JA. GAD65 neurological autoimmunity. Muscle Nerve 2017.
10. Ali F, Rowley M, Jayakrishnan B et al. Stiff-person syndrome (SPS) and anti-GAD-related CNS degenerations: Protean additions to the autoimmune central neuropathies. J Autoimmun 2011; 37: 79–87.
11. Holmoy T, Geis C. The immunological basis for treatment of stiff person syndrome. J Neuroimmunol 2011; 231: 55–60.
12. McKeon A, Martinez-Hernandez E, Lancaster E et al. Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype. JAMA Neurol 2011; 70 (1): 44–50.
13. Carvajal-González A, Leite MI, Waters P et al. Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes. Brain 2014; 137 (8): 2178–92.
14. Dalakas MC. Stiff person syndrome: advances in pathogenesis and therapeutic interventions. Curr Treat Options Neurol 2009; 11: 102–10.
________________________________________________
1. Rakocevic G, Floeter MK. Autoimmune stiff person syndrome and related myelopaties: understanding of electrophysiological and immunological processes. Muscle Nerve 2012; 45 (5): 623–34.
2. Meinck HM, Ricker K, Hulser PJ, Solimena M. Stiff man syndrome: neurophysiological findings in eight patients. J Neurol 1995; 242 (3): 134–42.
3. Shaw PJ. Stiff-man syndrome and its variants. Lancet 1999; 353 (9147): 86–7.
4. Brown P, Marsden CD. The stiff man and stiff man plus syndromes. J Neurol 1999; 246 (8): 648–52.
5. Saiz A, Blanco Y, Sabater L et al. Spectrum of neurological syndromes associated with glutamic acid decarboxylase antibodies: diagnostic clues for this association. Brain 2008; 131 (Pt. 10): 2553–63.
6. Tohid H. Anti-glutamic acid decarboxylase antibody positive neurological syndromes. Neurosci (Riyadh) 2016; 21 (3): 215–22.
7. Sarva H, Deik A, Ullah A, Severt WL. Clinical spectrum of stiff person syndrome: areview of recent reports. Tremor Other Hyperkinet Mov (NY) 2016; 6: 340.
8. Krasnov M.Iu., Pavlov E.V., Ershova M.V. i dr. Spektr nevrologicheskikh sindromov, assotsiirovannykh s antitelami k glutamat-dekarboksilaze. Annaly nevrologii. 2015; 4: 37–41. [in Russian]
9. Keon A, Tracy JA. GAD65 neurological autoimmunity. Muscle Nerve 2017.
10. Ali F, Rowley M, Jayakrishnan B et al. Stiff-person syndrome (SPS) and anti-GAD-related CNS degenerations: Protean additions to the autoimmune central neuropathies. J Autoimmun 2011; 37: 79–87.
11. Holmoy T, Geis C. The immunological basis for treatment of stiff person syndrome. J Neuroimmunol 2011; 231: 55–60.
12. McKeon A, Martinez-Hernandez E, Lancaster E et al. Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype. JAMA Neurol 2011; 70 (1): 44–50.
13. Carvajal-González A, Leite MI, Waters P et al. Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes. Brain 2014; 137 (8): 2178–92.
14. Dalakas MC. Stiff person syndrome: advances in pathogenesis and therapeutic interventions. Curr Treat Options Neurol 2009; 11: 102–10.
Авторы
А.В.Сердюк*, Е.А.Ковражкина
ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И.Пирогова Минздрава России». 117997, Россия, Москва, ул. Островитянова, д. 1
*mailaserdyuk@gmail.com
ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И.Пирогова Минздрава России». 117997, Россия, Москва, ул. Островитянова, д. 1
*mailaserdyuk@gmail.com
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A.V.Serdyuk*, E.A.Kovrazhkina
N.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation. 117997, Russian Federation, Moscow, ul. Ostrovitianova, d. 1
*mailaserdyuk@gmail.com
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