Alström Syndrome: A Systematic Review-Reference-Cited by-同舟云学术

Alström Syndrome: A Systematic Review

Published:2022-12-05 Issue:01 Volume:21 Page:015-017
ISSN:1304-2580
Container-title:Journal of Pediatric Neurology
language:en
Short-container-title:Journal of Pediatric Neurology

Author:

La Macchia Tommaso¹,Mancuso Alessio²,Ceravolo Maria Domenica²,Cuppari Caterina²,Chimenz Roberto³^ORCID,Farello Giovanni⁴,Gitto Eloisa⁵,Iapadre Giulia⁶,Ceravolo Ida⁷

Affiliation:

1. Unit of Cardiology, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

2. Department of Human Pathology and Evolutive Age “Gaetano Barresi,” University of Messina, Messina, Italy

3. Faculty of Medicine and Surgery, University of Messina, Messina, Italy

4. Pediatric Clinic–Department of Life, Health and Environmental Sciences–Piazzale Salvatore Tommasi 1, Coppito (AQ), Italy

5. Neonatal and Pediatric Intensive Care Unit, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

6. Department of Pediatrics, University of L'Aquila, L'Aquila, Italy

7. Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

Abstract

AbstractAlström syndrome (AS) is a rare multisystem disorder characterized by cone-rod retinal dystrophy leading to vision loss, hearing deficiency, obesity, type 2 diabetes mellitus, and insulin resistance with hyperinsulinemia. The conditions include dilated cardiomyopathy, recurrent fibrotic pulmonary infections, and progressive renal, hepatic, and endocrinological dysfunction. Other clinical findings consist of thyroid problems, short height, and growth hormone insufficiency. In addition, patients present with normal IQ, but in some cases delay in psychomotor and cognitive development is described. There is no treatment for AS, and life expectancy is around 40 years. However, an early identification of the disease can help in reducing the progression to severe conditions and in ameliorating the patient's quality of life. Our intent was to analyze the clinical data in literature on AS and provide an up-to-date review.

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0042-1759535.pdf

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