منابع مشابه
Three cases of late-onset oligomeganephronia
Oligomeganephronia is classified as a subgroup of renal hypoplasia, characterized by histopathologic abnormalities which progress to end-stage renal disease (ESRD) by school age. We describe three adult cases of oligomeganephronia who have not yet developed ESRD. We performed a renal biopsy in all of them. The pathological features, consisting of a reduced number of enlarged glomeruli, were dia...
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Annular pancreas is a relatively rare congenital diseasecaused by an embryologica1and anatomical disturbance in pancreas It may have no sympforns throughout the life and so occasionally discovered during an unrelevant surgery or autopsy but in most of the cases it shows itself as a duodenal obstruction during the infancy and childhood.Very rarely symptoms of the disease my be observed in adul...
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Segmental neurofibromatosis (NF5) is a rare variant of neurofibromatosis. To our knowledge, there have been few reports of cases presenting later in life. The recognition of NF5 is important, as there have been reports of paraneoplastic manifestations and transmission to offspring. Here we present the case of a patient who presented with NF5 first appearing in her mid-50s. This case illustrates...
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We describe a 60-year-old man with MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) and discuss the mitochondrial DNA point mutation 3243. A diagnosis of MELAS should be considered in the appropriate clinical setting at any age.
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Pompe disease or type II glycogen storage disease is a rare autosomal hereditary disease. The prevalence of the disease is about 1 in 40,000 to 1 in 300,000 population. It usually occurs as a result of glycogen accretion following acid maltase deficiency. The current treatment is enzyme replacement therapy, which may slow down the disease progression. Sometimes, the clinical presentation can be...
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ژورنال
عنوان ژورنال: Jornal Brasileiro de Nefrologia
سال: 2012
ISSN: 0101-2800
DOI: 10.5935/0101-2800.20120030