Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy

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• 作者：Ferdinando Ceravolo (1)
  Sonia Messina (2)
  Carmelo Rodolico (2)
  Pietro Strisciuglio (3)
  Daniela Concolino (4)
  
• 关键词：Sarcoglycanopathy ; Muscular dystrophy ; Neuromuscular disorders ; Myoglobinuria
• 刊名：European Journal of Pediatrics
• 出版年：2014
• 出版时间：February 2014
• 年：2014
• 卷：173
• 期：2
• 页码：239-242
• 全文大小：207 KB
• 作者单位：Ferdinando Ceravolo (1)
  Sonia Messina (2)
  Carmelo Rodolico (2)
  Pietro Strisciuglio (3)
  Daniela Concolino (4)
  
  1. Operative Unit of Metabolic Disease, Bambino Gesù Children’s Hospital, Rome, Italy
  2. Department of Neurosciences, University of Messina, Messina, Italy
  3. Department of Pediatrics, University “Federico II-of Naples, Naples, Italy
  4. Department of Pediatrics, University “Magna Graecia-of Catanzaro, Catanzaro, Italy
  
• ISSN：1432-1076

文摘

Myoglobinuria is a frequent complication of metabolic myopathies and may also occur in Duchenne and Becker dystrophies but is not a typical sign of limb–girdle muscular dystrophy. We describe an unusual presentation of alpha-sarcoglycanopathy with myoglobinuria at the onset of the disease. The boy presented an episode of dark urine, identified as presence of blood by a urine dipstick, occurred 10?days after an episode of fever and sore throat treated with antibiotics. He was admitted to the hospital and investigated for post-infectious nephritis, but further analysis revealed the presence of myoglobinuria. Immunohistochemistry on muscle tissue revealed absent expression of α-sarcoglycan confirmed by detection of a homozygous mutation in the alpha-sarcoglycan gene. Myoglobinuria has been previously reported four times in sarcoglycanopathies but only once in alpha-sarcoglycanopathy. Conclusion The present observation reinforces the idea that the myoglobinuria should be considered a manifestation of a primary sarcoglycanopathy even as the only recognizable sign at the debut of the disease.