Myoadenylate deaminase deficiency in a 5-year-old boy with intermittent muscle pain

L. N. Rossi, F. Cornelio, F. Dworzak, L. Morandi, G. Rossi, S. Di Mauro

Research output: Contribution to journalArticle

Abstract

A 5-year-old boy with occasional pain of brief duration in the right or the left leg during exercise since the age of 4 years in reported. There was no weakness nor any other abnormality at the neurological examination. The serum creatine phosphokinase activity was elevated three times out of four. The electromyogram showed myopathic abnormalities in the biceps, it was normal in quadriceps and anterior tibial muscles. A quadriceps muscle biopsy was performed. There was no histological nor histochemical abnormalities at the routine techniques. However, a completely negative reaction with myoadenylate deaminase (MADA) stain was found. The MADA enzymatic activity in the muscle was very low. It is likely that the clinical syndrome is related to MADA deficiency.

Original languageEnglish
Pages (from-to)89-93
Number of pages5
JournalHelvetica Paediatrica Acta
Volume39
Issue number1
Publication statusPublished - 1984

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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