{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:30:48Z","timestamp":1790695848146,"version":"4.1.0"},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Alstr\u00f6m syndrome (ALMS) is an autosomal recessive disorder characterized by multiple organ involvement, including progressive cone-rod dystrophy, sensorineural hearing loss, childhood obesity, and type 2 diabetes mellitus. Pathogenic variants in the ALMS1 gene are the known cause for the occurrence of this devastating condition.<\/jats:p>\n                  <jats:p>Here we report on a 12 year old boy referred to the University Clinic with early signs of impaired hearing and vision, obesity, and scoliosis. Central vision was first affected, followed by peripheral vision. In addition, his weight began increasing after the age of two years, reaching 78 kg at a height of 157 cm (BMI 31.64). No polydactyly was present. His mental development was normal in spite of his hearing and vision impairments. There was acanthosis nigricans on the neck. ECG and the cardiac ultrasound were normal. At the age of 12 years, his testicles are 12 ml and his pubertal status is P2 A2. OGTT revealed impaired glucose tolerance with elevated insulin concentrations 121ulU\/mL (reference range 2,00-29,1 ulU\/mL). Renal function was unaffected, liver functions were normal. Uric acid and lipids were within normal plasma concentrations. A Whole Exome Sequencing was performed and a homozygous ALMS1 pathogenic, frameshift gene variant (LRG_741t1(ALMS1):c.4156dup; p.Thr1386AsnfsTer15) was determined as the cause of the disease. Both parents were carriers for the variant. The absence of mental retardation and polydactyly differentiates Alstr\u00f6m and Bardet-Biedle syndrome.<\/jats:p>","DOI":"10.2478\/prilozi-2022-0028","type":"journal-article","created":{"date-parts":[[2022,7,13]],"date-time":"2022-07-13T14:06:25Z","timestamp":1657721185000},"page":"159-162","source":"Crossref","is-referenced-by-count":1,"title":["Alstr\u00f6m Syndrome with Early Vision and Hearing Impairement"],"prefix":"10.2478","volume":"43","author":[{"given":"Ardiana","family":"Beqiri-Jashari","sequence":"first","affiliation":[{"name":"University Clinic for Paediatrics , Medical Faculty Skopje , RN Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Janchevska","sequence":"additional","affiliation":[{"name":"University Clinic for Paediatrics , Medical Faculty Skopje , RN Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irfan","family":"Ahmeti","sequence":"additional","affiliation":[{"name":"University Clinic for Endocrinology, Diabetes and Metabolic Diseases , Medical Faculty Skopje , RN Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filip","family":"Doksimovski","sequence":"additional","affiliation":[{"name":"University Clinic for Paediatrics , Medical Faculty Skopje , RN Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marija","family":"Cipanovska","sequence":"additional","affiliation":[{"name":"University Clinic for Paediatrics , Medical Faculty Skopje , RN Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bojan","family":"Teov","sequence":"additional","affiliation":[{"name":"University Clinic for Paediatrics , Medical Faculty Skopje , RN Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilija Sukarova","family":"Stefanovska","sequence":"additional","affiliation":[{"name":"Macedonian Academy of Sciences and Arts, Research Centre for Genetic Engineering and Biotechnology \u201cGeorgi D. Efremov\u201d , Skopje , Skopje Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dijana","family":"Plaseska-Karanfilska","sequence":"additional","affiliation":[{"name":"Macedonian Academy of Sciences and Arts, Research Centre for Genetic Engineering and Biotechnology \u201cGeorgi D. Efremov\u201d , Skopje , Skopje Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoran","family":"Gucev","sequence":"additional","affiliation":[{"name":"University Clinic for Paediatrics , Medical Faculty Skopje , RN Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2022,7,13]]},"reference":[{"key":"2026071214263394131_j_prilozi-2022-0028_ref_001","unstructured":"1. Alstr\u00f6m 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 Laurencemoon-Bardet-Biedl syndrome: a clinical, Endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand Suppl. 1959; 129: 1\u201335."},{"key":"2026071214263394131_j_prilozi-2022-0028_ref_002","doi-asserted-by":"crossref","unstructured":"2. Marshall JD, Bronson RT, Collin GB et al: New Alstr\u00f6m syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med. 2005; 165: 675\u2013683.10.1001\/archinte.165.6.67515795345","DOI":"10.1001\/archinte.165.6.675"},{"key":"2026071214263394131_j_prilozi-2022-0028_ref_003","doi-asserted-by":"crossref","unstructured":"3. Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, et al. Alstr\u00f6m syndrome: mutation spectrum of ALMS. Hum Mutat. 2015; 36(7): 660\u20138.10.1002\/humu.22796447548625846608","DOI":"10.1002\/humu.22796"},{"key":"2026071214263394131_j_prilozi-2022-0028_ref_004","doi-asserted-by":"crossref","unstructured":"4. Choudhury AR, Munonye I, Sanu KP, Islam N, & Gadaga C. A review of Alstr\u00f6m syndrome: a rare monogenic ciliopathy. Intractable & rare diseases research.2021; 10(4): 257\u2013262.10.5582\/irdr.2021.01113863046634877237","DOI":"10.5582\/irdr.2021.01113"},{"key":"2026071214263394131_j_prilozi-2022-0028_ref_005","doi-asserted-by":"crossref","unstructured":"5. Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, Han JC, Favaretto F, Madathil SC, Dawson C, Armstrong MJ, Warfield AT, D\u00fczenli S, Francomano CA, Gunay-Aygun M, Dassie F, Marion V, Valenti M, Leeson-Beevers K, Chivers A, Steeds R, Barrett T, Geberhiwot T.Consensus clinical management guidelines for Alstr\u00f6m syndrome. Orphanet J Rare Dis.2020; 15: 253.10.1186\/s13023-020-01468-8750484332958032","DOI":"10.1186\/s13023-020-01468-8"},{"key":"2026071214263394131_j_prilozi-2022-0028_ref_006","doi-asserted-by":"crossref","unstructured":"6. Marshall JD, Beck S, Maffei P, Naggert JK. Alstr\u00f6m syndrome. Eur J Hum Genet. 2007; 15: 1193\u20131202.10.1038\/sj.ejhg.520193317940554","DOI":"10.1038\/sj.ejhg.5201933"},{"key":"2026071214263394131_j_prilozi-2022-0028_ref_007","doi-asserted-by":"crossref","unstructured":"7. Ozant\u00fcrk A, Marshall JD, Collin GB, D\u00fczenli S, Marshall RP, Candan \u015e, Tos T, Esen \u0130, Ta\u015fkesen M, \u00c7ay\u0131r A, \u00d6zt\u00fcrk \u015e, \u00dcst\u00fcn \u0130, Ataman E, Karaca E, \u00d6zdemir TR, Erol \u0130, Ero\u011flu FK, Torun D, Par\u0131ltay E, Y\u0131lmaz-G\u00fcle\u00e7 E, \u00d6zg\u00fcl RK. The phenotypic and molecular genetic spectrum of Alstr\u00f6m syndrome in 44 Turkish kindreds and a literature review of Alstr\u00f6m syndrome in Turkey. Journal of human genetics. 2015; 60 (1): 1\u20139.10.1038\/jhg.2014.85546076725296579","DOI":"10.1038\/jhg.2014.85"},{"key":"2026071214263394131_j_prilozi-2022-0028_ref_008","doi-asserted-by":"crossref","unstructured":"8. Kuburovi\u0107 V, Marshall JD, Collin GB, Nykamp K, Kuburovi\u0107 N, Milenkovi\u0107 T, Raki\u0107 S, Djuric M, Je\u010dmenica J, Milenkovi\u0107 S, & Naggert JK. Differences in the clinical spectrum of two adolescent male patients with Alstr\u00f6m syndrome. Clinical dysmorphology. 2013; 22(1): 7\u201312.10.1097\/MCD.0b013e32835b9017361994823188138","DOI":"10.1097\/MCD.0b013e32835b9017"},{"key":"2026071214263394131_j_prilozi-2022-0028_ref_009","doi-asserted-by":"crossref","unstructured":"9. Jiang P, Xiao L, Guo Y, Hu R, Zhang BY, He Y. Novel mutations of the Alstr\u00f6m syndrome 1 gene in an infant with dilated cardiomyopathy: A case report. World J Clin Cases. 2022; 10(7): 2330\u20132335.10.12998\/wjcc.v10.i7.2330889518335321175","DOI":"10.12998\/wjcc.v10.i7.2330"},{"key":"2026071214263394131_j_prilozi-2022-0028_ref_010","doi-asserted-by":"crossref","unstructured":"10. Dassie F, Favaretto F, Bettini S, Parolin M, Valenti M, Reschke F, Danne T, Vettor R, Milan G, Maffei P. Alstr\u00f6m syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity. Endocrine. 2021; 71: 618\u2013625.10.1007\/s12020-021-02643-y33566311","DOI":"10.1007\/s12020-021-02643-y"},{"key":"2026071214263394131_j_prilozi-2022-0028_ref_011","doi-asserted-by":"crossref","unstructured":"11. Casey J, Mc Gettigan P, Brosnahan D, Curtis E, Treacy E, Ennis S, Lynch SA. Atypical Alstr\u00f6m syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. Eur J Med Genet. 2014; 57: 55\u201359.10.1016\/j.ejmg.2014.01.00724503146","DOI":"10.1016\/j.ejmg.2014.01.007"}],"container-title":["PRILOZI"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/prilozi-2022-0028","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T00:50:20Z","timestamp":1783903820000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/prilozi-2022-0028"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,1]]},"references-count":11,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,7,13]]},"published-print":{"date-parts":[[2022,7,1]]}},"alternative-id":["10.2478\/prilozi-2022-0028"],"URL":"https:\/\/doi.org\/10.2478\/prilozi-2022-0028","relation":{},"ISSN":["1857-8985"],"issn-type":[{"value":"1857-8985","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,1]]}}}