RESUMO
Lipoid proteinosis is a rare genodermatosis characterized by multisystem involvement due to intracellular deposition of an amorphous hyaline material. Lipoid proteinosis is caused by mutations in the ECM1 gene. In many patients, skin and mucosa abnormalities are the first manifestation. When the CNS is affected, a wide variety of neurologic abnormalities may be present. The hallmark findings are calcifications, mostly occurring in the amygdalae, hippocampus, parahippocampal gyrus, or even the striatum. Present in half of the patients, moniliform blepharosis is considered a pathognomonic finding. In the other half of patients imaging could assist in the diagnosis. The authors present a series of 3 cases of lipoid proteinosis with brief clinical data and imaging findings.
Assuntos
Tonsila do Cerebelo , Encefalopatias/etiologia , Calcinose/etiologia , Corpo Estriado , Proteinose Lipoide de Urbach e Wiethe/complicações , Adolescente , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: To determine whether abnormalities of the CNS are present in very young children with sickle cell anemia. STUDY DESIGN: Thirty-nine children with hemoglobin SS between the ages of 7 and 48 months were examined with magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA). No child had a history of clinical stroke, although 3 had a history of seizures (2 neonatal). Twenty-one patients underwent developmental testing with the Bayley or McCarthy Scales. RESULTS: The overall prevalence of CNS abnormalities in asymptomatic children was 4 of 36 (11%, confidence interval 3, 26%). One patient had a silent infarct observed on MRI and a stenotic lesion on MRA; 3 other patients had stenotic lesions on MRA. The 3 patients who had a history of seizures all had lesions consistent with infarcts on MRI. Of the asymptomatic patients who had psychometric testing, 1 of 18 was developmentally delayed. One of 3 with a history of seizures had mild developmental delay. CONCLUSIONS: Very young children with sickle cell anemia (and no history of clinical stroke) have infarction in the brain and/or stenosis of major cerebral arteries, similar to those reported in older children. These findings indicate a need for larger studies to define the incidence of CNS lesions in this age group and to determine the need for early therapeutic intervention to prevent CNS sequelae of sickle cell disease.
Assuntos
Anemia Falciforme/complicações , Encéfalo/patologia , Doenças do Sistema Nervoso Central/etiologia , Doenças do Sistema Nervoso Central/diagnóstico , Doenças Arteriais Cerebrais/diagnóstico , Doenças Arteriais Cerebrais/etiologia , Infarto Cerebral/diagnóstico , Infarto Cerebral/etiologia , Comportamento Infantil , Pré-Escolar , Feminino , Humanos , Lactente , Comportamento do Lactente , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Testes Neuropsicológicos , Testes PsicológicosRESUMO
During an investigation of hantavirus pulmonary syndrome (HPS) in Paraguay in 1995, sera from persons with HPS-like illness, houshold contacts of confirmed HPS case-patients, and a sample of the area residents were analyzed by ELISA for antibodies to Sin Nombre virus (SNV). Rodent serosurveys and analysis of precipitation records were also conducted. Twenty-three of 24 available probable cases were SNV antibody-positive, 17 of whom were ill between July 1995 and January 1996. Four (14.8%) of 27 case-contacts and 44 (12.8%) of 345 community residents were also seropositive. Calomys laucha (vesper mouse) was the most common rodent species captured and the most frequently SNV-seropositive. Rainfall in May 1995 was 10-fold greater than that seen in May over the preceding 11 years. This 17 case-cluster represents the largest documented outbreak since HPS was first recognized in 1993. Calomys laucha is the likely primary rodent reservoir for a SNV-like hantavirus in western Paraguay. Fluctuations in monthly precipitation rates may have contributed to increased risk for HPS in this region.