Muscle phosphofructokinase deficiency in a myopathic child with severe mental retardation and aplasia of cerebellar vermis

Ornella Pastoris, Maurizia Dossena, Lorena Vercesi, Roberto Scelsi, Francesco Torcetta, Salvatore Savasta, Elena Bianchi

Research output: Contribution to journalArticle

Abstract

Muscle phosphofructokinase (PFK) deficiency in man is responsible for at least two forms of myopathy; one is characterized by painful contractures of muscles and typically occurs in adults, whereas the other is often disabling and typically occurs in childhood, with psychomotor and growth retardation. In this investigation, a young myopathic patient with severe mental retardation and aplasia of the cerebellar vermis presented with muscular hypotrophy of the limbs, generalized hypotonia, convergent strabismus and marked pain during passive movement. Biopsy of quadriceps femoris muscle showed variation in the fiber size with sarcoplasmic areas positive for periodic acid-Schiff stain. Histochemical qualitative reaction for PFK showed no staining of muscle fibers; ultrastructural studies showed abnormal accumulation of glycogen granules in both intermyofibrillar and subsarcolemmal areas. While some enzyme activities in the muscular crude extract were significantly lower than in controls, direct assay of PFK revealed no activity, thus demonstrating that the child's myopathy was due to the lack of PFK activity.

Original languageEnglish
Pages (from-to)237-241
Number of pages5
JournalChild's Nervous System
Volume8
Issue number4
DOIs
Publication statusPublished - Jun 1992

Keywords

  • Biochemistry
  • Enzyme histochemistry
  • Morphology
  • Phosphofructokinase deficiency
  • Skeletal muscle

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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