Journal of Inherited Metabolic Disease

, Volume 17, Issue 1, pp 93–103 | Cite as

A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate

  • W. Sperl
  • G. Bart
  • M. T. Vanier
  • H. Christomanou
  • I. Baldissera
  • E. Steichen-Gersdorf
  • E. Paschke


We report a family with six patients suffering from a sphingomyelinase-deficient form of Niemann-Pick disease, all presenting with a visceral course of the disease. Retinal changes classified as macular halos in four members indicated neuronal storage and therefore an intermediate type of the disease. For further classification of the biochemical type, [choline-methyl-14C]sphingomyelin degradation studies were carried out in fibroblast cultures of all six members. The low degradation rates measured were similar to those usually found in the neuronopathic form (type A) of Niemann-Pick disease. This family illustrates the broad heterogeneity within the sphingomyelinase deficiency group of the Niemann-Pick disease. Apparently the finding of a low sphingomyelin degradation rate in fibroblast cultures does not necessarily imply a typical serious and lethal course of the disease.


Public Health Internal Medicine Degradation Rate Degradation Study Fibroblast Culture 
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Copyright information

© SSIEM and Kluwer Academic Publishers 1994

Authors and Affiliations

  • W. Sperl
    • 1
  • G. Bart
    • 1
  • M. T. Vanier
    • 2
  • H. Christomanou
    • 3
  • I. Baldissera
    • 4
  • E. Steichen-Gersdorf
    • 1
  • E. Paschke
    • 5
  1. 1.Department of PediatricsUniversity of InnsbruckInnsbruckAustria
  2. 2.Foundation Gillet-Mérieux Laboratory and INSERM U 189Lyon-Sud School of MedicinePierre-BéniteFrance
  3. 3.Laboratory of NeurochemistryOceanographic Biochemical SocietyAthensGreece
  4. 4.Department of OphthalmologyUniversity of InnsbruckInnsbruckAustria
  5. 5.Department of PediatricsUniversity of GrazGrazAustria

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