The Wiedemann-Rautenstrauch or Neonatal Progeroid Syndrome - Neuropathological Study of a Case

Abstract

Neuropathological data from the autopsy of a 5 1/2 year-old female patient with the Wiedemann-Rautenstrauch or neonatal progeroid syndrome are reported. Extensive demyelination is found in the central nervous system with occasionally a tigroid pattern and with large amounts of neutral fats and intermediate debris of myelin breakdown in macrophages. These lesions are characteristic of pure sudanophilic leucodystrophy. Features differentiating the findings from those in Pelizaeus-Merzbacher disease and in other disorders associated with sudanophilic leucodystrophy with various special characteristics are presented and discussed.

Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients.

“…One of our patients died of bronchopneumonia. Because no pathological details were obtained in these patients, we cannot comment on the neuropathological findings of sudanophilic leucodystrophy reported by Martin et al 12 Radiographs of our three patients showed skeletal abnormalities that have been previously described6 (table 2). In addition, our patient 3 had a high mandibular angle and bone age in agreement with his chronological age.…”

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)

“…This is associated with a spectrum of clinical features, including delayed psychomotor development and physical growth, alopecia, macrocephaly and lipoatrophy (Arboleda et al 1997;Bitoun et al 1995;Castineyra et al 1992;Devos et al 1981;Martin et al 1984;Pivnick et al 2000;Toriello 1990). No genomic DNA mutations have yet been reported in WRS, but because lipodystrophy is a central feature, genes that cause lipodystrophy can be considered as candidates.…”

Neonatal progeroid syndrome: Report of a Japanese infant

“…The patient died at 5 1/2 years of age. Her neuropathological data were presented in a separate paper, which indicated an extensive demyelination of the central nervous system (Martin and Ceuterick, 1984). The clinical features common to these five patients and the patient we described included progeroid face apparent from birth, generalized diminution of the subcutaneous fat, growth and developmental delay, hydrocephaloid skull, persistent fontanel, prominent scalp veins, sparse scalp hair, hypoplastic faciat bones, high nasal bridge and large penis.…”