Evidence of polyglandular involvement in Niemann-Pick disease type B

Eur J Pediatr. 1987 Jul;146(4):431-3. doi: 10.1007/BF00444957.

Abstract

We report a girl with Niemann-Pick disease type B in whom short stature was recorded over a long period. Association of short stature with the presence of a polyglandular involvement in this patient is discussed.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adrenocorticotropic Hormone / blood
  • Dwarfism, Pituitary / diagnosis*
  • Endocrine System Diseases / diagnosis*
  • Female
  • Growth Hormone / deficiency
  • Humans
  • Hydrocortisone / blood
  • Niemann-Pick Diseases / diagnosis*
  • Sphingomyelin Phosphodiesterase / deficiency

Substances

  • Adrenocorticotropic Hormone
  • Growth Hormone
  • Sphingomyelin Phosphodiesterase
  • Hydrocortisone