Alstrom syndrome is a rare autosomal recessive disorder that was first described in 1959, by Carl Henry Alstrom, characterised by multiorgan system involvement ranging from ocular, aural, endocrinal, hepatorenal, gastrointestinal, respiratory and cardiac to the musculoskeletal system, among many others. It exposes the patient to various risks ranging from pulmonary aspiration and increased cardiac morbidity to separational anxiety, and may necessitate postoperative elective ventilation. We hereby present the successful management of one such diagnosed case in a 12-year-old boy, who presented to us for incision and drainage of an abscess present over the nape of his neck, along with foreign body removal from his right ear.
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http://dx.doi.org/10.4103/0019-5049.63628 | DOI Listing |
Mayo Clin Proc Innov Qual Outcomes
February 2025
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.
Objective: To determine the financial impact of Ehlers-Danlos syndromes (EDS) on patients in the United States by examining the medical expenses incurred by patients.
Patients And Methods: We used a convenience sample approach and disseminated a self-reported survey questionnaire to individuals with EDS via patient advocacy organizations and support groups across the country, social media, and health professionals from April 1, 2023, to December 31, 2023. The survey focused on the out-of-pocket medical expenses incurred by patients.
Orphanet J Rare Dis
January 2025
Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, B15 2TH, UK.
Background: Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy. The condition is progressive, but it is important to note that not all the complications associated with AS occur in everyone affected.
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December 2024
Congenital and Pediatric Cardiology, Department of Pediatrics, University Hospital Saint-Luc, Brussels, BEL.
We report two cases of end-stage dilated cardiomyopathy as the initial manifestation of Alström syndrome (ALMS), in infants aged two and five months. This rare monogenic, autosomal, and recessive genetic condition is a multisystem disorder characterized by visual and hearing impairment, cardiomyopathy childhood obesity, and other anomalies. These cases highlight the importance of genetic testing targeting the ALMS1 gene in the assessment of apparently isolated dilated cardiomyopathy.
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October 2024
Centre for Obesity Research, Rayne Institute, Department of Medicine, University College London, London, UK.
Obesity is a silent global pandemic. It is a condition associated with multiple risk factors and adverse outcomes that arise from the intertwined relationship between environmental factors and genetics. The genetic factors that cause phenotypic expression are variable.
View Article and Find Full Text PDFLancet
November 2024
Department of Medical Sciences, Cardiology, Uppsala University, Uppsala, Sweden; Uppsala Clinical Research Center, Uppsala University, Uppsala, Sweden.
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