Alstrom syndrome: A rare genetic disorder and its anaesthetic significance.

Indian J Anaesth

Department of Anaesthesiology and Critical Care, St. Stephens Hospital, Delhi - 110 054, India.

Published: March 2010

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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900742PMC
http://dx.doi.org/10.4103/0019-5049.63628DOI Listing

Publication Analysis

Top Keywords

alstrom syndrome
8
syndrome rare
8
rare genetic
4
genetic disorder
4
disorder anaesthetic
4
anaesthetic significance
4
significance alstrom
4
rare autosomal
4
autosomal recessive
4
recessive disorder
4

Similar Publications

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.

View Article and Find Full Text PDF

Alström syndrome: the journey to diagnosis.

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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 PDF
Article Synopsis
  • The study investigates the effectiveness of a new implant called the DynamX bioadaptor compared to a traditional drug-eluting stent (DES) in improving outcomes for patients undergoing percutaneous coronary intervention (PCI) due to heart disease.
  • Conducted across 20 hospitals in Sweden, the study randomly assigned eligible patients aged 18-85 to receive either the bioadaptor or a zotarolimus-eluting DES, measuring outcomes such as target lesion failure after 12 months.
  • The primary goal is to ensure the new device is not worse than the DES by measuring specific heart-related adverse events and ensuring that the risk difference remains within a predefined limit, indicating safety and efficacy.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!