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.
authors.affiliation: Department of Paediatrics, Semmelweis University, Budapest, Hungary. retlaj@yahoo.com
authors.forename: L A
authors.initials: LA
authors.lastname: Réthy
authors.forename: R
authors.initials: R
authors.lastname: Kálmánchey
authors.forename: V
authors.initials: V
authors.lastname: Klujber
authors.forename: R
authors.initials: R
authors.lastname: Koós
authors.forename: G
authors.initials: G
authors.lastname: Fekete
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000150:complications*; D006801:Humans; D007223:Infant; D007335:Insulin-Like Growth Factor II / Q000378:metabolism; D008297:Male; D018233:Rhabdomyosarcoma, Embryonal / Q000150:complications; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency*
chemical_list: D007335:Insulin-Like Growth Factor II; D013108:Sphingomyelin Phosphodiesterase