Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy

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 p...

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Bibliographic Details
Published in:European journal of pediatrics 2014-02, Vol.173 (2), p.239-242
Main Authors: Ceravolo, Ferdinando, Messina, Sonia, Rodolico, Carmelo, Strisciuglio, Pietro, Concolino, Daniela
Format: Article
Language:English
Subjects:
Antibiotics
Biopsy
Child
Child, Preschool
Diagnosis, Differential
Disease
DNA Mutational Analysis
Early Diagnosis
Follow-Up Studies
Homozygote
Humans
Hypotheses
Immunohistochemistry
Kinases
Male
Medicine
Medicine & Public Health
Metabolism
Muscle, Skeletal - pathology
Muscular Dystrophies, Limb-Girdle - diagnosis
Muscular Dystrophies, Limb-Girdle - genetics
Muscular dystrophy
Myoglobinuria - diagnosis
Myoglobinuria - genetics
Neurologic Examination
Pediatrics
Proteins
Sarcoglycanopathies - diagnosis
Sarcoglycanopathies - genetics
Sarcoglycans - genetics
Sarcolemma - pathology
Short Communication
Urine
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Summary: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-013-2151-z