Contemporary Encephalitis Lethargica: phenotype, laboratory findings and treatment outcomes.

BACKGROUND: Encephalitis lethargica (EL) is a CNS disorder that manifests with lethargy sleep cycle disturbances, extrapyramidal symptomatology, neuropsychiatric manifestations, ocular features and cardio-respiratory abnormalities. Although there have been no reported outbreaks of EL recently, a number of reports show that cases of EL are still encountered regularly. Against this background we conducted a study aiming to elucidate the clinical characteristics, describe laboratory/ neuroimaging findings (MRI, PET) and present treatment options and outcomes in sporadic EL. METHODS: Patients were diagnosed over a period of 3 years using proposed diagnostic criteria. Extensive laboratory and imaging tests were performed for exclusion of other causes. Anti-neuronal antibodies against human basal ganglia were detected with western immunoblotting and (18)F-FDG PET imaging was performed. Selected cases were videotaped. RESULTS: Our patients (M/F: 5/3) ranged from 2-28 years (mean 9.3 +/- 9.5). Encephalopathy, sleep disturbances and extrapyramidal symptoms were present in all cases. Laboratory investigations revealed CSF leukocytosis in 5/8 patients and anti-BG Ab in 4/7 patients. MRIs revealed structural abnormalities in 7/8 cases. (18)F-FDG PET showed basal ganglionic hypermetabolism in 4/7 patients. Treatment approaches included immunomodulating and symptomatic therapies. We report no mortality from EL in our series. CONCLUSIONS: There seems to be little doubt that cases of EL still occur. Diagnosis may be based on clinical suspicion and laboratory/imaging tests may lead to early initiation of immunomodulating and supporting therapies. We suggest that in addition to anti-BG Abs FDG PET should be considered as a diagnostic tool for EL.

Successful intravenous thrombolysis for acute stroke in a child.

We report an 8-year-old white girl with no previous medical history who developed sudden onset right hemiplegia, left gaze preference, and global aphasia. An acute left middle cerebral artery stroke syndrome was diagnosed. She was treated with intravenous recombinant tissue plasminogen activator, 2 hours after the onset of symptoms. A magnetic resonance image demonstrated an acute left middle cerebral artery stroke, and a magnetic resonance angiography showed a patent left middle cerebral artery. At discharge, she was able to speak normally and walk without support. She was also able to raise the right arm up to the level of the shoulder and showed increased motility of the hand and fingers. No treatment-related complications happened. To the best of our knowledge, this is, so far, the youngest child successfully treated with intravenous recombinant tissue plasminogen activator for acute ischemic stroke.

Childhood autism: a circuit syndrome?

BACKGROUND: Autism is a disorder that can lead to life-long disability. Currently, the etiology of autism is unknown, and although there are treatments for some of the behavioral abnormalities, there is no cure. REVIEW SUMMARY: While this article will review the clinical, anatomic, and pathologic features seen in autism, the primary focus will be to present a new and provocative unifying theory regarding the underlying mechanisms causing this disorder. Current research advances, some controversial, will be discussed, and a novel definition of autism as a "circuit syndrome" will be presented. The work elaborated here will tie many of the disparate findings together, based on the idea that autism arises from abnormalities of the cerebellolimbic circuitry. Some of the more alternative theories of autism, such as mercury toxicity, linkage to the measles, mumps, and rubella vaccine, and the use of secretin will be discussed. Finally, pharmacologic treatment options will be reviewed. CONCLUSIONS: Autism is not single disorder but represents dysfunction of the cerebellolimbic circuitry that can arise from many different etiologies.

Atypical features of medulloblastoma on magnetic resonance imaging: case report and review of the literature.

Magnetic resonance imaging (MRI) is the radiologic modality of choice used to evaluate suspected lesions in the posterior fossa, given its greater sensitivity compared with other neuroimaging techniques. The case of a 9-year-old girl with progressive ataxia is presented. MRI of the brain demonstrated nonspecific T2-weighted abnormalities involving the cerebellar vermis with minimal mass effect suggested by asymmetric enlargement of the left superior cerebellar peduncle. Postgadolinium studies showed only minimal enhancement of the left superior cerebellar peduncle. After an MRI of the spine demonstrated drop metastases, a cerebellar biopsy was performed, which revealed an infiltrating medulloblastoma confined to the granular layer and leptomeninges. Hence, MRI is an important ancillary tool in the diagnosis of medulloblastoma, but caution needs to be taken when interpreting imaging studies.