Das neonatale progeroide Syndrom (Wiedemann-Rautenstrauch-Syndrom): Kasuistik und Literaturübersicht

Abstract

The neonatal progeroid syndrome represents a complex of symptoms with unknown cause and pathogenesis. At 37 weeks of uncomplicated pregnancy a boy of non-consanguineous turkish parents was delivered by section. The weight of 1740 g and the length of 43 cm were striking, the circumference of the head was still within normal range. Further on the patient showed the diagnostic criteria of Wiedemann-Rautenstrauch syndrome: Beside growth failure and nearly absence of subcutaneous fat, old-looking face with hydrocephalic appearance, prominent scalp veins and sparse scalp hair, large hands and feet with long fingers and toes were found. Neonatal teeth didn't exist. But neonatal teeth are not always present in this syndrome. Among 19 published cases they were also not described in 6 cases (31.6%). Cataract was not found. A skin biopsy taken at the age of four months revealed an extremely thin dermis with pronounced rarefication of elastic material by light microscopy. On the electron microscopical level, no qualitative morphological aberrations or signs of degeneration were found, but normal although very small elastic fibres. With increasing age the appearance was nearly unchanged. In spite of high-caloric nutrition the increase of weight was not sufficient. The clinical symptoms of this patients were compared with the 19 already published cases of Wiedemann-Rautenstrauch syndrome. This shall be a contribution to the exact description of that extremely rare syndrome. We hope to facilitate, that hereby the differential diagnosis in difficult cases will be more easy. Because of heterogeneity it has to discuss if the Wiedemann-Rautenstrauch syndrome really represents a separate genetic entity within the group of premature aging syndromes.

Horizontal Transmission of Candida parapsilosis Candidemia in a Neonatal Intensive Care Unit

“…The infant was a severely ill and immunocompromised preterm baby, since he suffered from progeria, a disorder characterized by retarded physical development and progressive senile degeneration (6,11). When admitted to the NICU (first day of hospitalization), the newborn did not appear to harbor C. parapsilosis, as evidenced by the absence of yeast isolation from all the specimens taken from the baby (data not shown).…”

“…Only one (NB1) of the six preterm infants (NB1 to NB6) housed in the same room of the NICU developed C. parapsilosis candidemia during a 2-month period. This infant, who had progeria (6,11), exhibited signs of severe conjunctivitis and bloodstream infection at days 10 and 18 posthospitalization, respectively. C. parapsilosis was isolated from the conjunctival swab (Cp:c1) and blood sample (Cp:b1) of the infant (Table 1).…”

“…Therefore, the conjunctiva was regarded as the possible site through which C. parapsilosis entered the bloodstream of the infant with progeria. This newborn suffered from serious abnormalities of ectodermal and mesodermal tissues, characterized by atrophy of epidermis and dermis (6,11); since corneal tissue is of mesodermal origin and conjunctiva is derived from the ectodermic leaflet, it is likely that C. parapsilosis could gain access to the bloodstream directly through defective ocular barriers. The observation that ocular infections due to C. parapsilosis, though infrequent, have never been reported in association with systemic yeast dissemination (19,28) convincingly supports the notion that the integrity of ocular barriers efficaciously prevents the hematogenous dissemination of the yeast.…”

“…The infant had progeria, a disorder characterized by retarded physical development and progressive senile degeneration (6,11). This baby exhibited symptomatic conjunctivitis before the onset of bloodstream infection could be demonstrated.…”

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

“…в 1977 г., к 16-летнему возрасту развилась атаксия и задержка психомоторного развития. Психомоторное развитие таких пациентов различ-ными авторами характеризуется по-разному -от сильного отставания [9], на нижней границе нор-мы [10], до нормального когнитивного и моторно-го развития [11].…”