Generalized lysosomal storage in Yunis Varón syndrome

F. Dworzak, M. Mora, C. Borroni, F. Cornelio, F. Blasevich, A. Cappellini, F. Tagliavini, B. Bertagnolio

Research output: Contribution to journalArticlepeer-review

Abstract

Muscle biopsy in a neonate with features of Yunis Varón syndrome revealed a vacuolar myopathy with evidence of lysosomal storage disease. Similar vacuoles were also present in heart, cartilage, central nervous system and cultured fibroblasts. Although the histologic findings in the central nervous system resembled those of infantile acid maltase deficiency, the essayed lysosomal enzymes were normal. Chromatography of urine revealed abnormal bands of unidentified oligosaccharides. This is the first report of generalized storage disease in Yunis Varón syndrome. The biochemical defect is unknown.

Original languageEnglish
Pages (from-to)423-428
Number of pages6
JournalNeuromuscular Disorders
Volume5
Issue number5
DOIs
Publication statusPublished - 1995

Keywords

  • digital anomalies
  • ectodermal anomalies
  • facial dysmorphism
  • lysosomal storage disease
  • Yunis Varón syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience

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