Transient progeroid phenotype and lipodystrophy in mosaic polyploidy

Abstract

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.

Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome

“…The characteristic facial features include a triangular shape, pseudohydrocephalus, wide fontanelles, decreased sc fat, prominent veins, and a beak shaped or pinched nose. Thirty patients with NPS have been described in the medical literature although a few of the reported patients had a strikingly different phenotype and do not meet the diagnostic criteria for NPS [Petty et al, 1990; Delatycki et al, 1997; Karteszi et al, 2006]. Considerable phenotypic heterogeneity exists in this syndrome and the underlying genetic basis remains unknown.…”

Синдром Відемана — Раутенштрауха (Неонатальний Прогероїдний Синдром): Клінічне Спостереження Та Короткий Огляд Літератури

“…Мутации в POLR3A (OMIM #614258) обычно ассоциируются с синдромом 4H лейкодистрофии, который характе-ризуется триадой симптомов -гипомиелинизация, гиподонтия, гипогонадотропный гипогонадизм [29].…”