Anti-N-methyl-D-aspartate-receptor (NMDA-R) encephalitis is a new autoimmune, often paraneoplastic disorder that presents with complex neuropsychiatric symptoms. It was first described in 2007 by Dalmau et al. Our patient presented with headache, behavioral changes and then seizures with hallucinations. She was initially misdiagnosed to have schizophrenia and was prescribed antipsychotics. She deteriorated and developed further seizures with hypoventilation and choreoathetosis. Her blood investigations were positive for mycoplasma IGM. Her CSF studies showed high white cell counts, predominantly lymphocytes, and high anti-NMDA-R titre. Her brain MRI scans showed high tbl2 and FLAIR intensities in the grey and white matter of the left cerebellar hemisphere suggestive of acute disseminated encephalomyelitis. She responded to treatment with antibiotics, multiple antiepileptics, steroids and needed five sessions of plasmapheresis. There was no underlying malignancy on repeated scanning of the abdomen. She needed around one year for full recovery with intensive rehabilitation. The objective of this paper was to highlight the occurrence of this fairly new, challenging, easily missed, not-so-rare form of encephalitis often occurring in the absence of fever.
A 10-month-old Bahraini boy born full-term to first-degree cousins, initially had normal developmental milestones, but presented with recurrent encephalopathy and seizures associated with upper respiratory tract infection. With each attack, the patient developmentally regressed further. Brain magnetic resonance imaging showed multiple old and new infarcts. Cerebrospinal fluid biochemistry, microbiology, and amino acids were unremarkable. Tandems mass spectrometry of urine organic acids was unremarkable as well. Electroencephalogram showed asymmetry with cortical irritability. Whole exome sequencing revealed a homozygous mutation of RAN-binding protein 2 gene, suggesting a diagnosis of susceptibility to infection-induced acute encephalopathy 3, which is an autosomal dominant condition. This is the first case to be reported in Bahrain.
We present a child with glutamic acid decarboxylase (GAD) autoimmune encephalitis (AE) with bilateral thalamic lesions on magnetic resonance imaging (MRI) of the brain. A healthy 21-month-old girl, after superrefractory status epilepticus (SE) and fever developed dyskinesia and ataxia, which we subsequently diagnosed as GAD AE. She showed remarkable response to treatment with methylprednisolone and intravenous immunoglobulin (IVIg). Following an initial normal MRI of her brain, a further brain imaging showed bilateral thalamic lesions. This is a usual finding since brain imaging abnormalities, when found in GAD AE, mostly involve the mesial temporal lobe structures. Thalamic lesions in GAD AE have not been reported previously.
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