ABSTRACT
In childhood, central nervous system (CNS) presentations associated with antibodies to voltage-gated potassium channel (VGKC) complex include limbic encephalitis, status epilepticus, epileptic encephalopathy, and autistic regression. We report the cases of two individuals (a 6-year-old male and an 11-year-old female) who presented with an acute-onset explosive seizure disorder with positive VGKC complex antibodies and bilateral basal ganglia changes on magnetic resonance imaging (MRI). Both patients made a complete clinical recovery, without immunotherapy, with resolution of the MRI changes and normalization of the antibody levels. Extended antibody testing, including testing for leucine-rich glioma-inactivated 1 (LGI1), contactin-associated protein 2, and contactin-2 was negative. This could suggest that the clinico-radiological phenotype in our patients may in fact be associated with a novel autoreactive target(s) within the VGKC complex, as may be the case in other children with VGKC complex-mediated CNS disorders.
Subject(s)
Basal Ganglia/immunology , Epilepsy/immunology , Phenotype , Potassium Channels, Voltage-Gated/immunology , Asperger Syndrome/diagnosis , Asperger Syndrome/immunology , Basal Ganglia/diagnostic imaging , Child , Contactin 1/immunology , Contactin 2/immunology , Diagnosis, Differential , Epilepsy/diagnosis , Epilepsy/diagnostic imaging , Female , Humans , Intracellular Signaling Peptides and Proteins , Magnetic Resonance Imaging , Male , Proteins/immunology , Radiography , Radioimmunoprecipitation Assay/methodsABSTRACT
Asperger's syndrome is a subgroup of autism characterized by social deficits without language delay, and high cognitive performance. The biological nature of autism is still unknown but there are controversial evidence associating an immune imbalance and autism. Clinical findings, including atopic family history, serum IgE levels as well as cutaneous tests showed that incidence of atopy was higher in the Asperger group compared to the healthy controls. These findings suggest that atopy is frequent in this subgroup of autism implying that allergic inflammation might be an important feature in Asperger syndrome.
Subject(s)
Asperger Syndrome/epidemiology , Asperger Syndrome/immunology , Brain/immunology , Hypersensitivity/epidemiology , Hypersensitivity/immunology , Immune System/immunology , Adolescent , Asperger Syndrome/blood , Asthma/epidemiology , Biomarkers/blood , Brain/physiopathology , Child , Comorbidity , Dermatitis, Atopic/epidemiology , Diagnosis, Differential , Humans , Hypersensitivity/diagnosis , Immune System/physiopathology , Immunoglobulin E/blood , Incidence , Male , Rhinitis, Allergic, Seasonal/epidemiology , Sensitivity and SpecificityABSTRACT
A 12-year-old African American boy with mental retardation and Asperger's disorder presented with acute psychosis. Antiphospholipid antibody testing with enzyme-linked immunosorbent assay showed increased levels of immunoglobulin G anticardiolipin antibodies in the cerebrospinal fluid, but not in the serum. Although antiphospholipid antibodies have been reported in the serum of patients with thrombotic and neurologic disorders, there are only a few reports of these antibodies in cerebrospinal fluid. This finding is consistent with a recent report of antiphospholipid antibodies found in the cerebrospinal fluid of adults with acute psychosis.
