Revesz syndrome revisited

Orphanet Journal of Rare Diseases

Tim H. Brümmendorf¹  Fabian Beier¹  Eva Neumaier-Probst²  Frank Schlichtenbrede³  Peter Bader⁴  Michael Karremann⁵  Matthias Dürken⁵  Friedrich W. Cremer⁶ 

[1] Department of Hematology and Oncology, University Hospital of RWTH Aachen, Aachen, Germany;Department of Neuroradiology, University Medical Center Mannheim, Mannheim, Germany;Department of Ophthalmology, University Medical Center Mannheim, Mannheim, Germany;Department of Pediatrics, Pediatric Stem Cell Transplantation, University Hospital Frankfurt, Frankfurt, Germany;Department of Pediatrics, University Medical Center Mannheim, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany;SYNLAB Center for Human Genetics Mannheim, Mannheim, Germany;

关键词: Bone marrow failure;    Cerebellar hypoplasia;    Exudative retinopathy;    Growth retardation;    Pancytopenia;    Revesz syndrome;    Shelterin;    Telomere;    TINF2;   

DOI  :  10.1186/s13023-020-01553-y

来源: Springer

【 摘 要 】

BackgroundRevesz syndrome (RS) is an extremely rare variant of dyskeratosis congenita (DKC) with only anecdotal reports in the literature.MethodsTo 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.ResultsThe 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 transplantation (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.ConclusionRS 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.

【 授权许可】

CC BY