Abstract
Alstrom Hallgren syndrome is a rare ciliopathy first described in 1959. It is characterised by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity and congestive heart failure. Its pathogenesis is related to development of insulin resistance, and type 2 diabetes mellitus. We report a case of a 20-year-old presenting with decompensated heart failure and had been blind since childhood who was eventually diagnosed as Alstrom syndrome based on clinical criteria.
Similar content being viewed by others
References
www.alstrom.org as accessed on 16/4/18.
Marshall JD, Beck S, Maffei P, Naggert JK. Alström syndrome. Eur J Hum Genet. 2007;15:1193–202.
Alstrom CH, Hallgren B, Nilsson LB, Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand. 1959;34(suppl. 129):1–35.
Marshall JD, Maffei P, Collin GB, Naggert JK. Alström syndrome: genetics and clinical overview. Curr Genomics. 2011;12(3):225–35. https://doi.org/10.2174/138920211795677912.
Marshall JD, Paisey RB, Carey C, et al. Alström syndrome. 2003 Feb 7 [updated 2012 May 31]. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews® [Internet] Seattle (WA): University of Washington, Seattle; 1993–2018.
Bond J, Flintoff K, Higgins J, Scott S, Bennet C, Parsons J, et al. The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. J Med Genet. 2005;42:e10.
Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, et al. Alström syndrome: mutation spectrum of ALMS1. Hum Mutat. 2015;36(7):660–8.
Scheinfeldt LB, Biswas S, Madeoy J, Connelly CF, Schadt EE, Akey JM. Population genomic analysis of ALMS1 in humans reveals a surprisingly complex evolutionary history. Mol Biol Evol. 2009;26(6):1357–67.
Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alstrom syndrome: a report of four sibs. Am J Med Genet A. 2005;135:96–8.
Duffy AJ, Panait L, Eisenberg D, Bell RL, Roberts KE, Sumpio B. Management of median arcuate ligament syndrome: a new paradigm. Ann Vasc Surg. 2009 Nov-Dec;23(6):778–84.
Petrella S, Prates JC. Celiac trunk compression syndrome. A review. Int J Morphol. 2006;24(3):429–36.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Ethical approval
This article does not contain any use of animals or drugs by any of the authors.
Informed consent
The authors certify that they have obtained all the appropriate consent forms. In the form, the patient has given the consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published and due efforts will be made to conceal the identity, but anonymity cannot be guaranteed.
Additional information
Publisher’s note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Agarwal, K., Gupta, A., Thakur, D. et al. Alstrom syndrome: insulin resistance in young with congestive heart failure. Int J Diabetes Dev Ctries 39, 756–763 (2019). https://doi.org/10.1007/s13410-019-00738-x
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s13410-019-00738-x