Transient progeroid phenotype and lipodystrophy in mosaic polyploidy.
Wiedemann-Rautenstrauch syndrome is a rare disorder with a progressive course and early lethality. Severe mental and growth retardation, muscle hypotonia, a progeroid face, wrinkled skin, relative macrocephaly with late closure of the anterior fontanel, arachnodactyly and congenital heart defects are also typical. We report on a female infant with all the characteristic features of this syndrome after birth. Chromosomal studies on peripheral leukocytes showed a normal karyotype. In view of an abnormal lipid distribution and lipodystrophy, metabolic studies for congenital disorders of glycosylation have been performed with normal results. At the age of 2 years 6 months the progeroid signs were no longer present, and the patient had a striking improvement in her psychomotor development. As there are overlapping features in Wiedemann-Rautenstrauch syndrome and in mosaic polyploidy, including psychomotor retardation, reduced peripheral muscle bulk, arachnodactyly and lipodystrophy, chromosome analysis was performed in the fibroblast culture of our patient. A mosaic triploidy/tetraploidy was detected in 60% and 14% of the cells, respectively. We therefore recommend chromosome analysis of fibroblasts from patients with a neonatal presentation of progeroid features and lipodystrophy.
Kárteszi
Judit
J
University of Pécs, Medical Faculty, Department of Medical Genetics and Child Development, Pécs, Hungary University of Pécs, MTA-PTE Clinical Genetics Research Group, Pécs, Hungary University of Nijmegen, Department of Pediatrics, Nijmegen.
Kosztolányi
György
G
Czakó
Marta
M
Hadzsiev
Kinga
K
Morava
Éva
É
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008060:Lipodystrophy / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011123:Polyploidy; D011371:Progeria / Q000235:genetics* / Q000473:pathology