Pathology & Oncology Research

, Volume 6, Issue 4, pp 295–297 | Cite as

Acid sphingomyelinase deficiency in Beckwith-Wiedemann syndrome

  • Lajos A. Réthy
  • Rozália Kálmánchey
  • Valéria Klujber
  • Rozália Koós
  • György Fekete
Case Report


We report the association of Beckwith-Wiedemann syndrome (BWS) and a residual acid sphingomyelinase (ASM) activity of about 35% in a 23 months old Hungarian boy. Besides the classical triad of exomphalos, macroglossia and gigantism some other BWS-related features: polyhydramnios (known from the praenatal history), hemihypertrophy, craniofacial dysmorphy, a mild mental retardation, bilaterally undescended testes, cardiac anomalies and a terminally developed, fatal embryonal rhabdomyosarcoma were present in the patient. The decreased activity of the ASM was measured in the patient’s skin fibroblasts. This result, with hepatomegaly, mental retardation, feeding problems, a failure to thrive and musclehypotony, partially resembled the ASM-deficient forms of Niemann-Pick disease (NPD). Morphological analysis of the bone-marrow cells gave normal results. There was no chromosomal alteration found by conventional karyotyping of the patient’s lymphocytes.BWS-associated genes as well as the human ASM gene (SMPD1) are all located at 11p15. DNA-studies by region specific markers as well as mutational analysis for the most common NPD-mutations are planned in the future. This is the first report on the simultaneous occurrence of BWS and ASM-deficiency.


Beckwith-Wiedemann syndrome acidic sphingomyelinase deficiency embryonal rhabdomyosarcoma simultaneous occurrence 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.2
    Eliot M, Malier ER: Beckwifh-Wiedemann syndrome. J Med Genet 31:560–564, 1994.CrossRefGoogle Scholar
  2. 2.2
    Sotelo-Avila C, Gonzalez-Crussi F, Fowler JW: Complete and incomplete forms of Beckwith-Wiedemann syndrome: Their oncogenic potential. J Pediatr 96:47–50, 1980.CrossRefPubMedGoogle Scholar
  3. 3.2
    Wiedemann HR: Tumors and hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur J Pediatr 414:429, 1983.Google Scholar
  4. 4.2
    Reik W Maher ER: Imprinting in clusters: lessons from Beck-with-Wiedemann syndrome: Trends Genet 13:330–334, 1997.CrossRefPubMedGoogle Scholar
  5. 5.2
    Feinberg AP: Imprinting of a genomic domain of 11p15 and loss of imprinting in cancer: an introduction. Cancer Res 59 (Suppl):1743s-1746s, 1999.PubMedGoogle Scholar
  6. 6.2
    Schuchman, EH, Desnick RJ: Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. In: Scriver C.R., Beaudet A.L., Sly WS., Valle D (eds.): The metabolic and molecular basis of inherited disease, 7th ed. McGraw-Hill, New York, 1995. pp 2601–2624.Google Scholar
  7. 7.2
    Gaudray P, Carle GF, Gerhard DS, et al: Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998. Nice, France, May 2–5, 1998. Cytogenet Cell Genet 86:167–186, 1999.CrossRefPubMedGoogle Scholar
  8. 8.2
    Neri G, Marini R, Cappa M, et al: Simpson-Golabi-Behmel syndrome: an X-linked encephalo-trophoschisis syndrome. Am J Med Genet 30:287–299, 1988.CrossRefPubMedGoogle Scholar
  9. 9.2
    Grundy RG, Pritchard J, Baraitser M, et al: Perlman and Wiedemann-Beckwith syndromes: two distinct conditions associated with Wilms’ tumour. Eur J Pediatr 151:895–898, 1992.CrossRefPubMedGoogle Scholar
  10. 10.2
    Wiedemann HR, Grosse KR, Dibbern H: An atlas of characteristic syndromes. Wolfe Medical Publications, London, 1985.Google Scholar
  11. 11.2
    Cohen MM, Jr: A comprehensive and critical assessment of overgrowth and overgrowth syndromes. Adv Hum Genet 29:22–25, 1992.Google Scholar
  12. 12.2
    Mannens M, Alders M, Redeker B, et al: Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors. Med Pediatr Oncol 27:490–494, 1996.CrossRefPubMedGoogle Scholar
  13. 13.2
    Bliek J, Alders M, Ryan A, et al: The Beckwith-Wiedemann syndrome: entrance to genes involved in growth regulation. Abstract of the 6th International Workshop on Human Chromosome 11, Nice, France, 1998. URL: workshop/SCW11-6-Abstracts.htmlGoogle Scholar
  14. 14.2
    Redeker E, Alders M. Hoovers J, et al: Physical mapping of 3 candidate tumour suppressor genes relative to BWS associated chromosomal breakpoints at 11 p 15.3. Cytogenet Cell Genet 68:222–225, 1995.CrossRefPubMedGoogle Scholar

Copyright information

© Arányi Lajos Foundation 2000

Authors and Affiliations

  • Lajos A. Réthy
    • 1
  • Rozália Kálmánchey
    • 1
  • Valéria Klujber
    • 1
  • Rozália Koós
    • 1
  • György Fekete
    • 1
  1. 1.2nd Department of PaediatricsSemmelweis UniversityBudapest

Personalised recommendations