Abstract
Alstrom’s syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It’s a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss. Till now only 800 patients with this disorder has been identified so far. In this report, we describe the case of a 9-year old male boy from south India. He had been initially referred for polyphagia, polyuria, polydipsia, generalized weakness from 1 weeks. On examination he was demonstrated features suggestive of AS, including blindness, obesity, type 2 diabetes, altered lipid profile, hypogonadism, acanthosis nigricans, seborrheic dermatitis, right ear discharge and episodes of respiratory tract infections. So, diagnosis of AS is critical as it can easily be overlooked because of the many features associated with metabolic syndrome starting at age 7, a relatively early age.
Similar content being viewed by others
References
Marshall JD, Beck S, Maffei P, Naggert JK. Alstrom syndrome. Eur J Hum Genet. 2007;15(12):1193–202.
Kaya A, Orbak Z, Cay RA, Doneray H, Tasdemir S, Ozanturk A, et al. Combined occurrence of Alstrom syndrome and bronchiectasis. Pediatrics. 2014;133(3):780–3.
Ogbera AO. Prevalence and gender distribution of the metabolic syndrome. Diabetol Metab Syndr. 2010;2:1.
Silan F, Gur S, Kadioglu LE, Yalcintepe SA, Ukinc K. Characteristic findings of alstrom syndrome with a case report. Open J Clin Diagn. 2013;3:75–7.
Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, et al. New Alstrom syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med. 2005;165(6):675–83.
Paisey RB, Carey CM, Bower L, Marshall J, Taylor P, Maffei P, et al. Hypertriglyceridaemia in Alstrom’s syndrome: causes and associations in 37 cases. Clin Endocrinol (Oxf). 2004;60(2):228–31.
Bronson SC, Moses CRA, Periyandavar I, Dharmarajan P, Suresh E, Shanmugam A, et al. Diabetes in the young—a case of Alstrom syndrome with myopathy. J R Coll Physicians Edinb. 2015;45:33–7.
Michaud JL, Heon E, Guilbert F, Weill J, Puech B, Benson L, et al. Natural history of Alstrom syndrome in early childhood: onset with dilated cardiomyopathy. J Pediatr. 1996;128(2):225–9.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
None.
Rights and permissions
About this article
Cite this article
Ahmad, A., D’Souza, B., Yadav, C. et al. Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness. Ind J Clin Biochem 31, 480–482 (2016). https://doi.org/10.1007/s12291-015-0543-8
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12291-015-0543-8