RESUMO
Glycogen storage disease (GSD) type Ia is a rare inherited metabolic disease characterized by glucose-6-phosphatase (G6Pase) deficiency, which results in many metabolic problems, such as fasting hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia. The metabolic derangements may result in long-term complications, including growth retardation, gout, hepatic adenomas, and renal disease. A 26-year-old male was admitted with general weakness, multiple subcutaneous mass-like lesions, and hepatomegaly. He was diagnosed as GSD type Ia through analysis of the G6Pase gene. This disease is found mainly in childhood, but we diagnosed a case of GSD type Ia during a work-up of arthralgia and hepatomegaly in an adult patient. We report this case with a review of the literature
Assuntos
Adulto , Humanos , Masculino , Acidose Láctica , Adenoma , Artralgia , Glucose-6-Fosfatase , Glicogênio , Doença de Depósito de Glicogênio , Doença de Depósito de Glicogênio Tipo I , Gota , Hepatomegalia , Hiperlipidemias , Hiperuricemia , Hipoglicemia , Doenças MetabólicasRESUMO
Acro-osteolysis is characterized by bone resorption in the fingers and toes and can occur in several diseases. Occupational exposure to polyvinyl chloride polymers, thermal injury, and repetitive mechanical injury can also cause acro-osteolysis. The pathophysiology of the disease is unknown, but a unifying theme of vascular and mechanical injury is presented. Signs include Raynaud's phenomenon, bone loss in the hand and cold sensitivity. We report the case of a 67-year-old woman who presented with acro-osteolysis after being burned repeatedly.
Assuntos
Idoso , Feminino , Humanos , Acro-Osteólise , Reabsorção Óssea , Queimaduras , Temperatura Baixa , Dedos , Mãos , Exposição Ocupacional , Doenças do Sistema Nervoso Periférico , Polímeros , Cloreto de Polivinila , Dedos do PéRESUMO
Acro-osteolysis is characterized by bone resorption in the fingers and toes and can occur in several diseases. Occupational exposure to polyvinyl chloride polymers, thermal injury, and repetitive mechanical injury can also cause acro-osteolysis. The pathophysiology of the disease is unknown, but a unifying theme of vascular and mechanical injury is presented. Signs include Raynaud's phenomenon, bone loss in the hand and cold sensitivity. We report the case of a 67-year-old woman who presented with acro-osteolysis after being burned repeatedly.
Assuntos
Idoso , Feminino , Humanos , Acro-Osteólise , Reabsorção Óssea , Queimaduras , Temperatura Baixa , Dedos , Mãos , Exposição Ocupacional , Doenças do Sistema Nervoso Periférico , Polímeros , Cloreto de Polivinila , Dedos do PéRESUMO
Clostridium difficile is the leading cause of hospital-acquired diarrhea. The frequent use of antibiotics and chemotherapeutic agents increases the likelihood of acquiring Clostridium difficile-associated disease. Reactive arthritis is a recognized sequela of infection with a many types of enteric or urogenital pathogens. Although the main bacterial causes of reactive arthritis following enteric infection are Salmonella, Shigella, Campylobacter and Yersinia, Clostridium difficile should be considered as a rare cause of reactive arthritis. We report here on a case of a 63-year-old man who presented with reactive arthritis following an infection with Clostridium difficile.