TY - JOUR
T1 - Paediatric autoimmune encephalopathies
T2 - clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens
AU - Hacohen, Yael
AU - Wright, Sukhvir
AU - Waters, Patrick
AU - Agrawal, Shakti
AU - Carr, Lucinda
AU - Cross, Helen
AU - De Sousa, Carlos
AU - DeVile, Catherine
AU - Fallon, Penny
AU - Gupta, Rajat
AU - Hedderly, Tamasine
AU - Hughes, Elaine
AU - Kerr, Tim
AU - Lascelles, Karine
AU - Lin, Jean-Pierre
AU - Philip, Sunny
AU - Pohl, Keith
AU - Prabahkar, Prab
AU - Smith, Martin
AU - Williams, Ruth
AU - Clarke, Antonia
AU - Hemingway, Cheryl
AU - Wassmer, Evangeline
AU - Vincent, Angela
AU - Lim, Ming
PY - 2013/7
Y1 - 2013/7
N2 - Objective: To report the clinical and investigative features of children with a clinical diagnosis of probable autoimmune encephalopathy, both with and without antibodies to central nervous system antigens.
Method: Patients with encephalopathy plus one or more of neuropsychiatric symptoms, seizures, movement disorder or cognitive dysfunction, were identified from 111 paediatric serum samples referred from five tertiary paediatric neurology centres to Oxford for antibody testing in 2007-2010. A blinded clinical review panel identified 48 patients with a diagnosis of probable autoimmune encephalitis whose features are described. All samples were tested/retested for antibodies to N-methyl-D-aspartate receptor (NMDAR), VGKC-complex, LGI1, CASPR2 and contactin-2, GlyR, D1R, D2R, AMPAR, GABA(B) R and glutamic acid decarboxylase.
Results: Seizures (83%), behavioural change (63%), confusion (50%), movement disorder (38%) and hallucinations (25%) were common. 52% required intensive care support for seizure control or profound encephalopathy. An acute infective organism (15%) or abnormal cerebrospinal fluid (32%), EEG (70%) or MRI (37%) abnormalities were found. One 14-year-old girl had an ovarian teratoma. Serum antibodies were detected in 21/48 (44%) patients: NMDAR 13/48 (27%), VGKC-complex 7/48(15%) and GlyR 1/48(2%). Antibody negative patients shared similar clinical features to those who had specific antibodies detected. 18/34 patients (52%) who received immunotherapy made a complete recovery compared to 4/14 (28%) who were not treated; reductions in modified Rankin Scale for children scores were more common following immunotherapies. Antibody status did not appear to influence the treatment effect.
Conclusions: Our study outlines the common clinical and paraclinical features of children and adolescents with probable autoimmune encephalopathies. These patients, irrespective of positivity for the known antibody targets, appeared to benefit from immunotherapies and further antibody targets may be defined in the future.
AB - Objective: To report the clinical and investigative features of children with a clinical diagnosis of probable autoimmune encephalopathy, both with and without antibodies to central nervous system antigens.
Method: Patients with encephalopathy plus one or more of neuropsychiatric symptoms, seizures, movement disorder or cognitive dysfunction, were identified from 111 paediatric serum samples referred from five tertiary paediatric neurology centres to Oxford for antibody testing in 2007-2010. A blinded clinical review panel identified 48 patients with a diagnosis of probable autoimmune encephalitis whose features are described. All samples were tested/retested for antibodies to N-methyl-D-aspartate receptor (NMDAR), VGKC-complex, LGI1, CASPR2 and contactin-2, GlyR, D1R, D2R, AMPAR, GABA(B) R and glutamic acid decarboxylase.
Results: Seizures (83%), behavioural change (63%), confusion (50%), movement disorder (38%) and hallucinations (25%) were common. 52% required intensive care support for seizure control or profound encephalopathy. An acute infective organism (15%) or abnormal cerebrospinal fluid (32%), EEG (70%) or MRI (37%) abnormalities were found. One 14-year-old girl had an ovarian teratoma. Serum antibodies were detected in 21/48 (44%) patients: NMDAR 13/48 (27%), VGKC-complex 7/48(15%) and GlyR 1/48(2%). Antibody negative patients shared similar clinical features to those who had specific antibodies detected. 18/34 patients (52%) who received immunotherapy made a complete recovery compared to 4/14 (28%) who were not treated; reductions in modified Rankin Scale for children scores were more common following immunotherapies. Antibody status did not appear to influence the treatment effect.
Conclusions: Our study outlines the common clinical and paraclinical features of children and adolescents with probable autoimmune encephalopathies. These patients, irrespective of positivity for the known antibody targets, appeared to benefit from immunotherapies and further antibody targets may be defined in the future.
KW - ASPARTATE RECEPTOR ENCEPHALITIS
KW - VGKC-COMPLEX ANTIBODIES
KW - LIMBIC ENCEPHALITIS
KW - PROGRESSIVE ENCEPHALOMYELITIS
KW - EPILEPTIC ENCEPHALOPATHY
KW - NMDAR ENCEPHALITIS
KW - CHILDREN
KW - ADOLESCENTS
KW - ETIOLOGIES
KW - CHALLENGES
U2 - 10.1136/jnnp-2012-303807
DO - 10.1136/jnnp-2012-303807
M3 - Article
SN - 0022-3050
VL - 84
SP - 748
EP - 755
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
IS - 7
ER -