title: Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Operative Unit of Metabolic Disease, Bambino Gesù Children's Hospital, Rome, Italy, ferdinandoceravolo@gmail.com.
authors.forename: Ferdinando
authors.initials: F
authors.lastname: Ceravolo
authors.forename: Sonia
authors.initials: S
authors.lastname: Messina
authors.forename: Carmelo
authors.initials: C
authors.lastname: Rodolico
authors.forename: Pietro
authors.initials: P
authors.lastname: Strisciuglio
authors.forename: Daniela
authors.initials: D
authors.lastname: Concolino
mesh_terms: D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis* / Q000235:genetics; D009212:Myoglobinuria / Q000175:diagnosis* / Q000235:genetics; D009460:Neurologic Examination; D058088:Sarcoglycanopathies / Q000175:diagnosis* / Q000235:genetics; D049031:Sarcoglycans / Q000235:genetics; D012508:Sarcolemma / Q000473:pathology
chemical_list: D049031:Sarcoglycans