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 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.
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Réthy, L.A., Kálmánchey, R., Klujber, V. et al. Acid sphingomyelinase deficiency in Beckwith-Wiedemann syndrome. Pathol. Oncol. Res. 6, 295–297 (2000). https://doi.org/10.1007/BF03187335
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DOI: https://doi.org/10.1007/BF03187335