Acid sphingomyelinase deficiency in Beckwith-Wiedemann syndrome

L. A. Réthy, R. Kálmánchey, V. Klujber, R. Koós, G. Fekete

Research output: Article

6 Citations (Scopus)

Abstract

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 muscle-hypotony, 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.

Original languageEnglish
Pages (from-to)295-297
Number of pages3
JournalPathology and Oncology Research
Volume6
Issue number4
Publication statusPublished - 2000

Fingerprint

Type A Niemann-Pick Disease
Beckwith-Wiedemann Syndrome
Sphingomyelin Phosphodiesterase
Acids
Niemann-Pick Diseases
Intellectual Disability
Gigantism
Macroglossia
Embryonal Rhabdomyosarcoma
Polyhydramnios
Umbilical Hernia
Karyotyping
Failure to Thrive
Muscle Hypotonia
Cryptorchidism
Hepatomegaly
Bone Marrow Cells
Genes
Fibroblasts
History

ASJC Scopus subject areas

  • Cancer Research
  • Oncology
  • Pathology and Forensic Medicine

Cite this

Réthy, L. A., Kálmánchey, R., Klujber, V., Koós, R., & Fekete, G. (2000). Acid sphingomyelinase deficiency in Beckwith-Wiedemann syndrome. Pathology and Oncology Research, 6(4), 295-297.

Acid sphingomyelinase deficiency in Beckwith-Wiedemann syndrome. / Réthy, L. A.; Kálmánchey, R.; Klujber, V.; Koós, R.; Fekete, G.

In: Pathology and Oncology Research, Vol. 6, No. 4, 2000, p. 295-297.

Research output: Article

Réthy, LA, Kálmánchey, R, Klujber, V, Koós, R & Fekete, G 2000, 'Acid sphingomyelinase deficiency in Beckwith-Wiedemann syndrome', Pathology and Oncology Research, vol. 6, no. 4, pp. 295-297.
Réthy, L. A. ; Kálmánchey, R. ; Klujber, V. ; Koós, R. ; Fekete, G. / Acid sphingomyelinase deficiency in Beckwith-Wiedemann syndrome. In: Pathology and Oncology Research. 2000 ; Vol. 6, No. 4. pp. 295-297.
@article{c9183ba8ac424b49b131c85fe32f0c28,
title = "Acid sphingomyelinase deficiency in Beckwith-Wiedemann syndrome",
abstract = "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 muscle-hypotony, 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.",
keywords = "Acidic sphingomyelinase deficiency, Beckwith-Wiedemann syndrome, Embryonal rhabdomyosarcoma, Simultaneous occurrence",
author = "R{\'e}thy, {L. A.} and R. K{\'a}lm{\'a}nchey and V. Klujber and R. Ko{\'o}s and G. Fekete",
year = "2000",
language = "English",
volume = "6",
pages = "295--297",
journal = "Pathology and Oncology Research",
issn = "1219-4956",
publisher = "Springer Netherlands",
number = "4",

}

TY - JOUR

T1 - Acid sphingomyelinase deficiency in Beckwith-Wiedemann syndrome

AU - Réthy, L. A.

AU - Kálmánchey, R.

AU - Klujber, V.

AU - Koós, R.

AU - Fekete, G.

PY - 2000

Y1 - 2000

N2 - 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 muscle-hypotony, 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.

AB - 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 muscle-hypotony, 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.

KW - Acidic sphingomyelinase deficiency

KW - Beckwith-Wiedemann syndrome

KW - Embryonal rhabdomyosarcoma

KW - Simultaneous occurrence

UR - http://www.scopus.com/inward/record.url?scp=0034473139&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034473139&partnerID=8YFLogxK

M3 - Article

C2 - 11173664

AN - SCOPUS:0034473139

VL - 6

SP - 295

EP - 297

JO - Pathology and Oncology Research

JF - Pathology and Oncology Research

SN - 1219-4956

IS - 4

ER -