PMID: 11932991Apr 5, 2002Paper

Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures

American Journal of Medical Genetics
P VoldersFrank P Luyten

Abstract

We report here a unique case of a 55-year-old woman presenting with a clinical picture of Parkinson disease, severe back pain, splenomegaly, and pronounced dyspnea. Radiographic examination of the spine showed multiple vertebral fractures. Niemann-Pick disease type B was diagnosed by findings of lipid-loaded histiocytes and a strongly reduced sphingomyelinase enzyme activity. She was homozygous for the deletion of codon 608 (delR608), which encodes an arginine residue in the Acid Sphingomyelinase gene. To investigate the cause of the unusual vertebral fractures, we screened for polymorphisms previously described as possibly associated with increased risk for osteoporosis and fractures. Our patient was heterozygous for the polymorphisms of the vitamin D receptor gene, the estrogen receptor gene, and the collagen 1A1gene. Increased physical activity after Parkinson treatment, a genetic predisposition, together with worsening disease due to interfering medications could explain the dramatic presentation of this patient. She was treated with cholesterol lowering drugs such as statins to decrease sphingomyelin synthesis, avoidance of drugs that inhibit sphingomyelinase, and bisphosphonates. No new fractures have occurred, but the in...Continue Reading

References

May 1, 1990·Biochimica Et Biophysica Acta·A H Merrill, D D Jones
Sep 1, 1995·The Journal of Nutrition·M J GeelenA C Beynen
Apr 6, 1995·Biochimica Et Biophysica Acta·J P JaffrézouT Levade
Nov 1, 1996·Journal of Computer Assisted Tomography·G R FerrettiM Coulomb
Nov 15, 1997·Cancer·M J RogersR G Russell
Mar 14, 1998·Baillière's Clinical Haematology·T M Cox, J P Schofield
Jul 20, 1999·Current Opinion in Rheumatology·S FerrariJ P Bonjour
Oct 12, 2000·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·S R MirandaE H Schuchman

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Citations

Jun 22, 2012·Journal of Inherited Metabolic Disease·Melissa WassersteinMargaret M McGovern
Mar 1, 2016·Movement Disorders : Official Journal of the Movement Disorder Society·Tim MoorsWilma D J van de Berg
May 28, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Tamar ShacharAnthony H Futerman
Jun 4, 2015·Neuroscience·K V Rama Rao, T Kielian
Aug 8, 2014·Molecular Neurobiology·Hao DengJoseph Jankovic
Dec 22, 2004·Prenatal Diagnosis·Ali HellaniSerdar Coskun

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