Encephalitis Associated With Glutamic Acid Decarboxylase Autoantibodies in a Child A Treatable Condition?

被引:36
作者
Korff, Christian M. [1 ]
Parvex, Paloma
Cimasoni, Laurent
Wilhelm-Bals, Alexandra
Hampe, Christiane S. [8 ]
Schwitzgebel, Valerie M. [2 ]
Michel, Melanie [4 ]
Siegrist, Claire-Anne [3 ,6 ]
Lalive, Patrice H. [7 ]
Seeck, Margitta [5 ]
机构
[1] Univ Hosp Geneva, Pediat Specialties Serv, Child & Adolescent Dept, CH-1211 Geneva 14, Switzerland
[2] Univ Hosp Geneva, Pediat Specialties Serv, Dev & Growth Serv, CH-1211 Geneva 14, Switzerland
[3] Univ Hosp Geneva, Immunovaccinol Unit, Gen Paediat Serv, CH-1211 Geneva 14, Switzerland
[4] Univ Hosp Geneva, Child & Adolescent Dept, Neuropsychol Unit, CH-1211 Geneva 14, Switzerland
[5] Univ Hosp Geneva, Electroencephalogram & Epileptol Unit, CH-1211 Geneva 14, Switzerland
[6] Univ Hosp Geneva, Neurol Serv, Clin Neurosci Dept, Lab Med Serv,Dept Genet & Lab Med, CH-1211 Geneva 14, Switzerland
[7] Univ Hosp Geneva, Lab Neuroimmunol, Div Neurol, Dept Clin Neurosci, CH-1211 Geneva 14, Switzerland
[8] Univ Washington, Dept Med, Seattle, WA USA
关键词
STIFF-MAN SYNDROME; LIMBIC ENCEPHALITIS; DIABETES-MELLITUS; RITUXIMAB THERAPY; GAD ANTIBODY; B-CELLS; RECOGNITION; EPITOPE;
D O I
10.1001/archneurol.2011.177
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Objective: To increase the recognition of glutamic acid decarboxylase autoantibodies-related encephalitis in childhood. Design: Case report and review of the literature. Patient: A 6-year-old girl who had developed refractory seizures, developmental regression, and type 1 diabetes mellitus at age 25 months. Interventions: Blood analysis, electroencephalogram, cerebral magnetic resonance imaging, positron emission tomography scan, lumbar puncture, and measurement of glutamic acid decarboxylase activity were performed. Treatment with repeated plasmapheresis and rituximab, with concomitant antiepileptic drugs, was administered. Results: Highly elevated titers of glutamic acid decarboxylase autoantibodies were found in the serum, as well as in the cerebrospinal fluid. Major clinical improvement in parallel with a decrease in the levels of serum and cerebrospinal fluid antibodies was observed with treatment. Conclusions: Encephalitis associated with glutamic acid decarboxylase autoantibodies is a severe epileptic disorder that occurs in young children as well as adults. It may be partially reversible with aggressive immunomodulatory treatment, including plasmapheresis and rituximab. Studies are warranted to determine whether early treatment leads to complete remission.
引用
收藏
页码:1065 / 1068
页数:4
相关论文
共 23 条
[1]   Limbic encephalitis associated with anti-GAD antibody and common variable immune deficiency [J].
Akman, Cigdem I. ;
Patterson, Marc C. ;
Rubinstein, Arye ;
Herzog, Ronit .
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2009, 51 (07) :563-567
[2]   Rituximab therapy in two children with autoimmune thrombotic thrombocytopenic purpura [J].
Albaramki, Jumana H. ;
Teo, Juliana ;
Alexander, Stephen I. .
PEDIATRIC NEPHROLOGY, 2009, 24 (09) :1749-1752
[3]   Rituximab therapy for multisystem autoimmune diseases in pediatric patients [J].
Binstadt, BA ;
Caldas, AMC ;
Turvey, SE ;
Weinstein, HJ ;
Jackson, J ;
Fuhlbrigge, RC ;
Sundel, RP .
JOURNAL OF PEDIATRICS, 2003, 143 (05) :598-604
[4]   B cells as therapeutic targets in autoimmune neurological disorders [J].
Dalakas, Marinos C. .
NATURE CLINICAL PRACTICE NEUROLOGY, 2008, 4 (10) :557-567
[5]  
Daw K, 1996, J IMMUNOL, V156, P818
[6]   Stiff-man syndrome:: identification of 17β-hydroxysteroid dehydrogenase type 4 as a novel 80-kDa antineuronal antigen [J].
Dinkel, K ;
Rickert, M ;
Möller, G ;
Adamski, J ;
Meinck, HM ;
Richter, W .
JOURNAL OF NEUROIMMUNOLOGY, 2002, 130 (1-2) :184-193
[7]   COOH-terminal clustering of autoantibody and T-cell determinants on the structure of GAD65 provide insights into the molecular basis of autoreactivity [J].
Fenalti, Gustavo ;
Hampe, Christiane S. ;
Arafat, Yasir ;
Law, Ruby H. P. ;
Banga, J. Paul ;
Mackay, Ian R. ;
Whisstock, James C. ;
Buckle, Ashley M. ;
Rowley, Merrill J. .
DIABETES, 2008, 57 (05) :1293-1301
[8]   Recognition of glutamic acid decarboxylase (GAD) by autoantibodies from different GAD antibody-positive phenotypes [J].
Hampe, CS ;
Hammerle, LP ;
Bekris, L ;
Örtqvist, E ;
Kockum, I ;
Rolandsson, O ;
Landin-Olsson, M ;
Törn, C ;
Persson, B ;
Lernmark, Å .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2000, 85 (12) :4671-4679
[9]   Site-directed mutagenesis of K396R of the 65 kDa glutamic acid decarboxylase active site obliterates enzyme activity but not antibody binding [J].
Hampe, CS ;
Hammerle, LP ;
Falorni, A ;
Robertson, J ;
Lernmark, Å .
FEBS LETTERS, 2001, 488 (03) :185-189
[10]  
LIIMATAINEN S, 2009, EPILEPSIA, V51, P760