Subject(s)
Encephalitis, St. Louis/diagnosis , Animals , Argentina/epidemiology , Chickens , Columbidae , Communicable Diseases, Emerging/diagnosis , Encephalitis Virus, St. Louis/isolation & purification , Encephalitis, St. Louis/epidemiology , Encephalitis, St. Louis/transmission , Humans , Male , Mice , Middle Aged , SongbirdsABSTRACT
We report the first case of isolated biotin resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency in Argentina. The diagnosis was established at 14 months of age by urinary organic-acid analysis and confirmed by enzyme assay in fibroblasts. The patient suffered from severe psychomotor retardation, hypotonia, areflexia, and failure to thrive, and died unexpectedly at 3 years 4 months of life. Brain MRI at 14 months showed signals of the white matter on cerebral T2-weighted, which were indicative of confluent and multiple foci of leukodystrophy, a pattern not previously described in this entity. In addition, high levels of oxypurines were detected in cerebrospinal fluid. This might be related to energetic consequences of the enzyme deficiency in the brain. This case extends the phenotype of isolated MCC deficiency in infancy and suggests this entity should be considered to be one of the possible causes of "metabolic leukodystrophies."
Subject(s)
Brain/pathology , Carbon-Carbon Ligases/deficiency , Nervous System Diseases/enzymology , Nervous System Diseases/pathology , Purines/cerebrospinal fluid , Fatal Outcome , Fibroblasts/enzymology , Genetic Complementation Test , Humans , Infant , Magnetic Resonance Imaging , Male , Mitochondria/enzymologyABSTRACT
Foram revistos os aspectos radiológicos de 10 pacientes portadores de Hidatidose hepática, avaliados mediante tomografia computadorizada, no Hospital Privado de Buenos Aires, Sanatório Güemes.. Cisto hidático único foi encontrado em 6 casos; os demais apresentavam cistos múltiplos. Na grande maioria os cistos localizavam-se lo lobo direito do fígado. Calcificaçöes grosseiras na periferia dos cistos estavam presentes em 30% dos casos e, em apenas dois pacientes, foram demonstrados cistos-filhos e membranas rotas internas, achados de grande valor diagnostico. Finalmente, destacam-se as vantagens da tomografia computadorizada na avaliaçäo dessa patologia
