In five prospectively diagnosed patients with relapsing post-herpes simplex encephalitis (HSE), NMDAR-antibodies were identified. Antibody synthesis started 1–4 weeks post-HSE, preceding the neurological relapse. Three of five patients improved post-immunotherapy, one spontaneously, and one has started to improve. Two additional patients with NMDAR-antibodies, 9 with unknown neuronal surface-antibodies, and one with NMDAR and unknown antibodies were identified during retrospective assessment of 34 HSE-patients; the frequency of autoantibodies increased over time (serum p=0.004, CSF p=0.04). The three retrospectively identified NMDAR-antibody positive patients also had evidence of relapsing post-HSE. Overall, these findings indicate that HSE triggers NMDAR-antibodies and potentially other brain autoimmunity.

We have diagnosed type I glutaric aciduria (GA-I) in 14 children from 7 Old Order Amish families in Lancaster County, Pennsylvania. An otherwise rare disorder, GA-I appears to be a common cause of acute encephalopathy and cerebral palsy among the Amish. The natural history of the disease, which was previously unrecognized in this population, is remarkably variable and ranges from acute infantile encephalopathy and sudden death to static extrapyramidal cerebral palsy to normal adult. Ten patients first manifested the disease between 3 and 18 months at the time of an acute infectious illness. Four of these children died in early childhood, also during acute illnesses. However, there has been little progression of the neurological disease after age 5 years in the surviving children and intellect usually has been preserved, even in children with severe spastic paralysis. When well, patients have plasma glutaric acid concentrations ranging from 4.8 to 14.2 mumol/liter (nl 0-5.6 mumol/liter) and urinary glutaric acid concentrations from 12.5 to 196 mg/g creatinine (nl 0.5-8.4 mg/g creatinine). We have found that GA-I can be diagnosed in the Amish by measurement of urinary glutaric acid concentrations using isotope-dilution gas chromatography/mass spectrometry, whereas the diagnosis can easily be missed by routine urine organic acid gas chromatography.(ABSTRACT TRUNCATED AT 250 WORDS)

Little is known about the epilepsy that often occurs in the juvenile form of Huntington's disease (HD), but is absent from the adult-onset form. The primary aim of this study was to characterize the seizures in juvenile HD (JHD) subjects with regard to frequency, semiology, defining EEG characteristics, and response to antiepileptic agents. A multicenter, retrospective cohort was identified by database query and/or chart review. Data on age of HD onset, primary HD manifestations, number of CAG repeats, the presence or absence of seizures, seizure type(s), antiepileptic drugs used, subjects' response to antiepileptic drugs (AEDs), and EEG results were assembled, where available. Ninety subjects with genetically confirmed JHD were included. Seizures were present in 38% of subjects and were more likely to occur with younger ages of HD onset. Generalized tonic-clonic seizures were the most common seizure type, followed by tonic, myoclonic, and staring spells. Multiple seizure types commonly occurred within the same individual. Data on EEG findings and AED usage are presented. Seizure risk in JHD increases with younger age of HD onset. Our ability to draw firm conclusions about defining EEG characteristics and response to AEDs was limited by the retrospective nature of the study. Future prospective studies are required.

In the past, West Nile fever has manifested as a systemic illness involving acute fever, myalgia, headache, lymphadenopathy, and maculopapular rash. 2 However, in 1 to 40% of cases there has been infection of the neuroaxis, including encephalitis, meningitis, myelitis, radiculopathy, and peripheral neuropathy. 3,4 We describe an adolescent with West Nile encephalitis with brainstem manifestations.Case report. A healthy 15-year-old boy presented with a 3-day history of fever, headache, vomiting, and confusion. Recent history was remarkable for multiple insect bites while living in the Bronx and during a visit to Rhode Island in July 1999. History was negative for immunosuppression, systemic illness, rashes, vaccinations, trauma, or drug use. The patient was hospitalized in the Bronx on September 5, 1999. Pertinent laboratory investigations included abnormal CSF results, with 98 white blood cells/mm 3 , 498 red blood cells/mm 3 , protein count of 84 mg/dL, and glucose count of 65 mg/dL. The differential showed 8% polymorphonuclear cells, 86% lymphocytes, and 6% monocytes. The Center for Disease Control and Prevention documented an elevated immunoglobulin M (IgM) count in the high positive category for West Nile virus in the CSF and blood. Serum Lyme titer was negative, and no other serology workup was performed. Hematologic and blood chemistries were normal. Before the diagnosis, sedimentation rate and antinuclear antibody tests were not ordered. A CT scan of the brain was normal. No electrophysiologic studies were performed. During the hospitalization, the patient required a nasogastric tube, as he was unable to swallow.Six weeks postadmission, the patient was seen in a pediatric neurology clinic. He had bifacial weakness, depressed gag reflex, and tongue fasciculations. Also, there was bilateral appendicular and truncal ataxia. The tendon reflexes were mildly increased, with the right side greater than left. One month later, he improved with a more ellicitable gag reflex, less ataxia, a decrease in tongue fasciculations, less drooling, better swallowing, and efficient feeding. Brain MRI at that time was normal. Six months after the illness, neurologic examination was normal.