Revesz syndrome revisited
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REVIEW
Revesz syndrome revisited Michael Karremann1* , Eva Neumaier‑Probst2, Frank Schlichtenbrede3, Fabian Beier4, Tim H. Brümmendorf4, Friedrich W. Cremer5, Peter Bader6 and Matthias Dürken1
Abstract Background: Revesz syndrome (RS) is an extremely rare variant of dyskeratosis congenita (DKC) with only anecdotal reports in the literature. Methods: To further characterize the typical features and natural course of the disease, we screened the English literature and summarized the clinical and epidemiological features of previously published RS cases. In addition, we herein describe the first recorded patient in central Europe. Results: The literature review included 18 children. Clinical features are summarized, indicating a low prevalence of the classical DKC triad. All patients experienced early bone marrow failure, in most cases within the second year of life (median age 1.5 years; 95% CI 1.4–1.6). Retinopathy occurred typically between 6 and 18 months of age (median age 1.1 years; 95% CI 0.7–1.5). The incidence of seizures was low and was present in an estimated 20% of patients. The onset of seizures was exclusively during early childhood. The Kaplan–Meier estimate of survival was dismal (median survival 6.5 years; 95% CI 3.6–9.4), and none of the patients survived beyond the age of 12 years. Stem cell transplan‑ tation (SCT) was performed in eight children, and after a median of 22 months from SCT four of these patients were alive at the last follow up visit. Conclusion: RS is a severe variant of DKC with early bone marrow failure and retinopathy in all patients. Survival is dismal, but stem cell transplantation may be performed successfully and might improve prognosis in the future. Keywords: Bone marrow failure, Cerebellar hypoplasia, Exudative retinopathy, Growth retardation, Pancytopenia, Revesz syndrome, Shelterin, Telomere, TINF2 Background Dyskeratosis congenita (DKC) is a multisystem disorder classically defined by a triad of clinical symptoms including oral leukoplakia, hyperpigmented reticular skin lesions, and nail dystrophy, but the clinical features are highly variable [1, 2]. Individuals are prone to develop bone marrow failure, malignancies, immunodeficiency, and pulmonary complications. Less common features include dental and eye abnormalities, esophageal stenosis, urethral stenosis, avascular necrosis of the femur and/ or humerus, osteopenia, enteropathy, and liver disease *Correspondence: [email protected] 1 Department of Pediatrics, University Medical Center Mannheim, Theodor‑Kutzer‑Ufer 1‑3, 68167 Mannheim, Germany Full list of author information is available at the end of the article
[3]. Within this wide spectrum of clinical phenotypes, some rare entities represent distinct variants of DKC, namely Høyeraal-Hreidarsson syndrome (HHS, OMIM #305000) and Revesz syndrome (RS; OMIM #268130) [4]. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC; formerly Coats plus syndrome, OMIM #612199) is another disorder of telomere maintenance, with distinct o
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