RESUMEN
UNLABELLED: Progressive facial hemiatrophy (PFH) is a sporadic disease of unclear etiology, characterized by shrinking and deformation of one side of the face. Reports and interpretations of CNS involvement in PFH, as deduced from the occurrence of seizures in some patients and documented by pneumoencephalography and CT findings in small series of patients, are contradictory. We examined three female patients with PFH, one with partial epilepsy, with the view to gaining further insight into the pathogenesis of the disease. METHODS: Routine MR examinations of the head and face were performed. RESULTS: Only the patient with epilepsy showed pathological findings, confined to the cerebral hemisphere homolateral to the facial hemiatrophy, and including monoventricular enlargement, meningo-cortical dysmorphia and white matter changes. CONCLUSIONS: The MR morphology, and corresponding neuroradiological and histopathological findings disclosed by a review of the literature, indicate that homolateral hemiatrophy is a typical finding for a subgroup of PFH patients, but do not support the model of a simple or nutritive atrophic process. We reconsider chronic localized meningo-encephalitis with vascular involvement as possible underlying cause of the occasional brain involvement in PFH.
Asunto(s)
Encéfalo/patología , Hemiatrofia Facial/patología , Adulto , Hemiatrofia Facial/complicaciones , Femenino , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , SíndromeRESUMEN
A hemiatrofia facial progressiva (HFP) é doença esporádica de etiologia näo esclarecida, caracterizada por progressiva atrofia e deformaçäo de um dos lados da face. Os relatos e interpretaçöes de comprometimento do sistema nervoso central HFP, conforme deduzido pela ocorrência de crises epilépticas em alguns pacientes e pela documentaçäo por pneumencefalografia e CT em pequenas séries de pacientes, säo contraditórios. Examinamos tres pacientes do sexo feminino com HFP, uma com epilepsia, com o objetivo de obter mais informaçöes sobre patogênese da doença. Métodos: Realizamos exames de ressonância magnética nuclear (RMN) de rotina da cabeça e face. Resultados: Apenas a paciente com epilepsia apresentou achados patológicos no cérebro. Estes eram confinados ao hemisfério homolateral à hemiatrofia facial: dilataçäo monoventricular, dismorfismo maningo-cortical e alteraçöes na substância branca. Conclusöes: As alteraçöes morfológicas verificadas à RMN assim como os achados neurorradiológicos e histopatológicos mostrados em revisäo da literatura indicaram que a hemiatrofia homolateral é achado típico para um subgrupo de pacientes com HFP, mas näo indica um modelo de simples processo atrófico. Reconsideramos a possibilidade de uma meningoencefalite crônica com acometimento vascular como possível causa do ocasional envolvimento cerebral na HFP
Asunto(s)
Humanos , Femenino , Adulto , Persona de Mediana Edad , Cerebro/patología , Hemiatrofia Facial/patología , Hemiatrofia Facial/etiología , Imagen por Resonancia Magnética , SíndromeRESUMEN
We used a highly specific method, alkaline methanolysis-high performance liquid chromatography, for determining the concentration and patterns of the unconjugated and esterified bilirubin fractions in the sera of pediatric patients with hepatobiliary disease. Bilirubin-protein conjugates were assayed using a new method that selectively removes bilirubin reversibly bound to protein, allowing measurement of the tightly bound bilirubin-protein conjugates by use of a diazo method. Fifty-two serum samples from children with varying bilirubin concentrations and diagnoses were studied. Whereas no conjugated pigment was detectable in the serum samples of healthy children or in individuals with Gilbert syndrome or Crigler-Najjar syndrome, bilirubin monoester and diester conjugates and bilirubin-protein conjugates were present in the sera of children with cholestatic liver disease, and accounted for 69% +/- 15% of the total bilirubin in these samples. Bilirubin fractional analysis was incapable of differentiating extrahepatic biliary obstruction from hepatocellular disease, because of overlap between the groups. The presence of bilirubin-protein conjugates in serum always coincided with detection of bilirubin monoester and diester conjugates. The distribution of bilirubin and its conjugates in sera provides a sensitive, although nonspecific, measure of hepatic disease.