Archives of neurology最新文献

BACKGROUND Case reports of subacute sclerosing panencephalitis (SSPE) in individuals with human immunodeficiency virus (HIV) infection are scarce, and the natural history is unclear. To our knowledge, a fulminant presentation has not yet been described. OBJECTIVE To describe a case of fulminant SSPE in an individual with a perinatally acquired HIV infection. DESIGN Case report and literature review. SETTING Christian Medical College Hospital, Vellore, India. PATIENT A 17-year-old boy with a perinatally acquired HIV infection. RESULTS The patient presented with subacute-onset cognitive decline and myoclonic jerks with rapid deterioration of health (the patient died within 12 weeks of onset). The findings from magnetic resonance imaging and electroencephalography and the cerebrospinal fluid and serum measles antibody titers were suggestive of SSPE. The fulminant presentation in this case needs to be noted. CONCLUSIONS Along with the better life expectancy of HIV-infected individuals, there may be an increase in the incidence of SSPE in this population. Fulminant SSPE may be added to the spectrum of measles-associated neurological disorders in HIV.

BACKGROUND New-onset Alzheimer disease (AD) is often attributed to degenerative changes in the hippocampus. However, the contribution of regionally distributed small vessel cerebrovascular disease, visualized as white matter hyperintensities (WMHs) on magnetic resonance imaging, remains unclear. OBJECTIVE To determine whether regional WMHs and hippocampal volume predict incident AD in an epidemiological study. DESIGN A longitudinal community-based epidemiological study of older adults from northern Manhattan, New York. SETTING The Washington Heights/Inwood Columbia Aging Project. PARTICIPANTS Between 2005 and 2007, 717 participants without dementia received magnetic resonance imaging scans. A mean (SD) of 40.28 (9.77) months later, 503 returned for follow-up clinical examination and 46 met criteria for incident dementia (45 with AD). Regional WMHs and relative hippocampal volumes were derived. Three Cox proportional hazards models were run to predict incident dementia, controlling for relevant variables. The first included all WMH measurements; the second included relative hippocampal volume; and the third combined the 2 measurements. MAIN OUTCOME MEASURE Incident AD. RESULTS White matter hyperintensity volume in the parietal lobe predicted time to incident dementia (hazard ratio [HR] = 1.194; P = .03). Relative hippocampal volume did not predict incident dementia when considered alone (HR = 0.419; P = .77) or with the WMH measures included in the model (HR = 0.302; P = .70). Including hippocampal volume in the model did not notably alter the predictive utility of parietal lobe WMHs (HR = 1.197; P = .049). CONCLUSIONS The findings highlight the regional specificity of the association of WMHs with AD. It is not clear whether parietal WMHs solely represent a marker for cerebrovascular burden or point to distinct injury compared with other regions. Future work should elucidate pathogenic mechanisms linking WMHs and AD pathology.

Objective: To investigate the delay in diagnosis, residual motor signs, and nonmotor signs of dopa-responsive dystonia (DRD) using literature and our own pilot data.

Design, setting, and patients: We searched the MEDLINE database for patients with clinically typical DRD and/or guanosine triphosphate cyclohydrolase I gene mutations from 1952 to 2011 and examined a pilot cohort of 23 outpatients with DRD and guanosine triphosphate cyclohydrolase I gene mutations.

Results: The literature search yielded 101 reports describing 576 cases. Excluding cases without proven guanosine triphosphate cyclohydrolase I gene mutations as well as homozygous and asymptomatic mutation carriers resulted in 352 cases. The mean (SD) ages at onset were 11.6 (13.4) years (literature) and 9.4 (7.7) years (pilot study). The average (SD) delays in diagnosis were 13.5 (13.3) years (literature) and 15.5 (16.3) years (pilot study); using all literature cases, they were 9.1 (7.5) years before and 15.2 (13.7) years after identification of the guanosine triphosphate cyclohydrolase I gene. Residual motor signs in patients receiving therapy were found in 28% (literature) and 39% (pilot study). Residual motor signs in the literature comprised dystonic (20%) and parkinsonian (11%) symptoms, as well as complications such as contractures or unnecessary surgical procedures. Information on nonmotor signs was given for 70 patients in the literature. Of these, 34% had depression, 19% anxiety, and 9% obsessive-compulsive disorder. Six of our own cases (32%) reported 1 or more nonmotor signs including depression and migraine.

Conclusions: The delay in diagnosis is long, despite the well-known etiology and availability of genetic testing and specific therapy. A sizable number of treated patients have residual motor signs, nonmotor signs, and complications resulting from the lack of timely therapy or unnecessary procedures.

Objective: To describe the clinical, electrographic, and radiographic features of status epilepticus amauroticus, or homonymous hemianopsia associated with partial status epilepticus, in 3 patients w:h subsequent resolution of radiographic abnormalities and visual deficits.

Design: Case series.

Setting: Rancho Los Amigos National Rehabilitation Center in Downey, California, and the Los Angeles County + University of Southern California Medical Center.

Patients: One patient with a single remote seizure and 2 patients with symptomatic partial epilepsy all presented with homonymous hemianopsia.

Intervention: Continuous electroencephalographic monitoring, magnetic resonance imaging, and antiepileptic medical therapy for status epilepticus.

Main outcome measures: Neurologic examination, electroencephalography, and magnetic resonance imaging.

Results: The association of homonymous hemianopsia and restricted diffusion on magnetic resonance imaging led to an initial diagnosis of ischemic infarction in 2 cases despite atypical diffusion-weighted imaging patterns. However, continuous electroencephalogram demonstrated focal epileptiform discharges in 2 cases and repetitive focal seizures in another, suggesting a diagnosis of status epilepticus amauroticus. Homonymous hemianopsia resolved in all 3 patients after escalation of the dosage of anticonvulsant therapy. Follow-up magnetic resonance imaging and electroencephalogram demonstrated complete or near-complete resolution of associated abnormalities.

Conclusions: Status epilepticus amauroticus is an uncommon but important cause of homonymous hemianopsia, and it should be considered in any patient with a history of seizures, fluctuating visual symptoms, or atypical patterns of restricted diffusion involving the occipital cortex. Continuous electroencephalographic monitoring is an important diagnostic tool for the diagnosis of status epilepticus amauroticus, which may have a favorable prognosis when treated with aggressive anticonvulsant therapy.

Objective: To explore the value of diffusion tensor imaging applied to those specific cerebral white matter tracts consistently involved pathologically in amyotrophic lateral sclerosis as a source of prognostic biomarkers.

Design: Baseline clinical assessment and 3-T diffusion tensor imaging, repeated after approximately 6 months.Tract-based spatial statistics were used to assess voxel wise correlations of just the baseline diffusion tensor imaging indices with the progression rate (change in disability score/time interval) within the corticospinal tract and corpus callosum.

Patients: The study involved 21 patients with amyotrophic lateral sclerosis and 3 patients with primary lateral sclerosis.

Results: Correlation was observed between fractional anisotropy and progression rate for a region of the corticospinal tract spanning the posterior limb of the internal capsule, with a left hemisphere emphasis. Posterior limb of the internal capsule fractional anisotropy showed potential to distinguish those patients with rapid progression. Axial diffusivity significantly increased in this region in a paired t test analysis of baseline and follow-up diffusion tensor imaging, in keeping with axonal damage.No correlations were noted for the corpus callosum.

Conclusions: Posterior limb of the internal capsule fractional anisotropy is a candidate prognostic marker in amyotrophic lateral sclerosis, with potential to identify incident cases with more rapid progression.