Prader-Willi-like phenotype in fragile X syndrome |
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| Authors: | Constance Schrander-Stumpel Willem-Jan Gerver John Engelen Hans Mulder Jean-Pierre Fryns |
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| Affiliation: | Division of Human Genetics, University of Limburg, Maastricht;Division of Pediatrics, University of Limburg, Maastricht;Department of Pediatrics, St. Jans Gasthuis, Weert, The Netherlands;Division of Human Genetics, University of Leuven, Leuven, Belgium |
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| Abstract: | Henk Meyer1
A 3-year-old boy was referred to the pediatric department because of unexplained extreme obesity. Height and occipitofrontal circumference were just above the 90th centile. Endocrine studies failed to show any significant abnormality. Motor and speech development were generally delayed. On clinical-cytogenetic-molecular grounds, Prader-Willi syndrome was excluded. Fragile X syndrome was diagnosed by the presence of the classical FMR-1 mutation and confirmed by cytogenetic studies, revealing 20% fragile X positive cells. We compare the clinical features in the present patient with the nine reported patients with fra(X) syndrome and extreme obesity. In pathogenesis, hypothalamic dysregulation is hypothesized. In differential diagnosis of Prader-Willi syndrome, fragile X has to be considered, especially when laboratory workup for Prader-Willi syndrome is negative. Clinical behavior can be of help. |
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| Keywords: | fragile X syndrome Prader-Willi phenotype |
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