Literature DB >> 20661355

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

Akhilesh Tiwari1, Disha Awasthi, Swapnil Tayal, S Ganguly.   

Abstract

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.

Entities:  

Keywords:  Genetic syndrome; anaesthetic implications; multiorgan dysfunction

Year:  2010        PMID: 20661355      PMCID: PMC2900742          DOI: 10.4103/0019-5049.63628

Source DB:  PubMed          Journal:  Indian J Anaesth        ISSN: 0019-5049


  6 in total

1.  Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs.

Authors:  J D Hoffman; Z Jacobson; T L Young; J D Marshall; Paige Kaplan
Journal:  Am J Med Genet A       Date:  2005-05-15       Impact factor: 2.802

2.  Alström syndrome.

Authors:  Jan D Marshall; Sebastian Beck; Pietro Maffei; Jürgen K Naggert
Journal:  Eur J Hum Genet       Date:  2007-10-17       Impact factor: 4.246

Review 3.  The Alström syndrome: is it a rare or unknown disease?

Authors:  Pietro Maffei; Vincenzo Munno; Jan D Marshall; Cesare Scandellari; Nicola Sicolo
Journal:  Ann Ital Med Int       Date:  2002 Oct-Dec

Review 4.  Alström syndrome. Report of 22 cases and literature review.

Authors:  I M Russell-Eggitt; P T Clayton; R Coffey; A Kriss; D S Taylor; J F Taylor
Journal:  Ophthalmology       Date:  1998-07       Impact factor: 12.079

Review 5.  The ciliopathies: an emerging class of human genetic disorders.

Authors:  Jose L Badano; Norimasa Mitsuma; Phil L Beales; Nicholas Katsanis
Journal:  Annu Rev Genomics Hum Genet       Date:  2006       Impact factor: 8.929

Review 6.  Alstrom syndrome (OMIM 203800): a case report and literature review.

Authors:  Tisha Joy; Henian Cao; Graeme Black; Rayaz Malik; Valentine Charlton-Menys; Robert A Hegele; Paul N Durrington
Journal:  Orphanet J Rare Dis       Date:  2007-12-21       Impact factor: 4.123

  6 in total

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