Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review

Abstract

The neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, hypotrichosis of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and micrognathia. We report on 5 new patients who demonstrate phenotypic variability and who represent the single largest series of NPS reported to date. Two of the patients are from an African-American kindred, an ethnic occurrence not reported previously. The fact that there are 2 pairs of sibs among the 5 patients further supports that NPS is an autosomal recessive condition. This report also includes a review of the previously reported 16 patients and compares them with the 5 new patients. Abnormalities in endocrine and lipid metabolism were found in 3 of 5 patients. Skeletal findings in 2 of our patients demonstrated some new findings as well as the typical radiological abnormalities previously noted in NPS. It is apparent, based on the 21 cases, that mild to moderate mental retardation is common in NPS. Long term follow-up of patients with NPS should provide more information relative to their ultimate psychomotor development. NPS is usually lethal by 7 months; however, on rare occasions, patients have survived into the teens. Our 3 surviving patients range in age from 16-23 months. Variability in the phenotype of NPS is clear; however, the phenotype remains distinct enough to allow a secure diagnosis.

Wiedemann–Rautenstrauch Syndrome: First Indian Case

“…WRS is a rare autosomal recessive disorder comprising of generalized lipoatrophy (except for fat pads in the suprabuttock areas), hypotrichosis of the scalp hair, eyebrows, and eye lashes, triangular face, natal teeth, pinched nose, pseudo hydrocephalus (relative macrocephaly) with wide fontanelles and prominent subcutaneous veins and micrognathia [1]. Although the phenotype of NPS is understood to be quite variable, it remains distinct enough to allow a secure diagnosis.…”

“…Endocrine abnormalities like hypothyroidism, cryptorchidism, hyperprolactinemia, abnormal glucose tolerance test and diabetes mellitus have been reported in NPS [1]. The present patient had normal thyroid function tests, plasma glucose, LDL and VLDL levels.…”

“…Paradoxical caudal fat accumulation has been present in half of the reported cases [1]. But, the present patient did not have paradoxical caudal fat accumulation.…”

Congenital generalized lipodystrophies—new insights into metabolic dysfunction

“…164 Neonatal progeroid syndrome This syndrome is heterogeneous and manifests with generalized lipodystrophy that usually spares the buttocks, hands and feet; failure to thrive; hypotrichosis of the scalp hair, eyebrows and eyelashes; triangular face; micrognathia and variable clinical features like ear dysplasia, laryngomalacia and hyperpigmentation of the skin. 165,166 Metabolic complications do not usually occur. Two subtypes have been reported to be due to de novo heterozygous mutations in FBN1 and CAV1.…”

Geschwisterpaar mit neonatalem progeroidem Syndrom (Wiedemann-Rautenstrauch)

“…Trotz teilweise deutlicher phänotypischer Variabilität ist bei Kenntnis der Kriterien eine sichere Diagnose des NPS möglich [4,6,7,9]. Langzeitbeobachtungen von Patienten mit NPS existieren kaum [5,8], da die meisten der inzwischen knapp 30 publizierten Patienten bereits in den ersten Lebensmonaten verstorben sind [1 ± 3, 6, 7].…”