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Journal of Pediatric Neurology 2023; 21(01): 015-017
DOI: 10.1055/s-0042-1759535
Review Article

Alström Syndrome: A Systematic Review

Tommaso La Macchia
1   Unit of Cardiology, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
,
Alessio Mancuso
2   Department of Human Pathology and Evolutive Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Maria Domenica Ceravolo
2   Department of Human Pathology and Evolutive Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Caterina Cuppari
2   Department of Human Pathology and Evolutive Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Roberto Chimenz 
3   Faculty of Medicine and Surgery, University of Messina, Messina, Italy
,
Giovanni Farello
4   Pediatric Clinic–Department of Life, Health and Environmental Sciences–Piazzale Salvatore Tommasi 1, Coppito (AQ), Italy
,
Eloisa Gitto
5   Neonatal and Pediatric Intensive Care Unit, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Giulia Iapadre
6   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
,
Ida Ceravolo
7   Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
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Abstract

Alström 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.

Keywords

Alström syndrome - ciliopathies - ALMS1 - Bardet–Biedl syndrome - obesity

Author Contributions

Conceptualization: T. L. M., A. M., M. D. C.


Investigation: C. C., G. F., R. C.


Resources: E. G., G. I.


Data curation: I. C.


Writing - original draft preparation: T. L. M.


Writing - review and editing: I. C.


Supervision: E. G.


All authors have read and agreed to the published version of the manuscript.


Data Availability Statement

The data presented in this study are available on request from the corresponding author.




Publication History

Received: 22 August 2022

Accepted: 27 October 2022

Article published online:
05 December 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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