[MIM 203 800]

Very rare. Autosomal recessive transmission of a mutation of the ALMS1 gene (2p13), coding for a protein of the cilia. 

Multisystemic disease combining, in the order of appearance but with great interindividual variability:

-        dystrophy of the cones and rods of the retina, causing progressive blindness (early vision loss): nystagmus, and photophobia in the first few weeks

-        dilated cardiomyopathy (70 %), which manifests itself in the infant or young person by acute sudden heart failure; the cardiomyopathy may be restrictive in adults

-        early truncal obesity with resistance to insulin, type 2 diabetes and hypertension; hypertriglyceridemia with a risk of pancreatitis

-        endocrine problems: micropenis and testicular atrophy in boys; irregular periods, hirsutism in female adolescents

-        sensorineural hearing loss

-        frequent respiratory problems with airway hyperreactivity and finally progressive pulmonary fibrosis

-        progressive renal failure due to a glomerulofibrosis

-        liver disease: steatosis and hepatic fibrosis. a few cases of cirrhosis with portal hypertension in adults

-        latent hypothyroidism (sella turcica is frequent empty)

Intelligence is usually normal or slightly deficient.

Morphology: rounded face and deep-set eyes; fine hair, early frontal alopecia; various dental anomalies (colour, number); wide flat feet with  short and stubby toes; thoracic  and/or lumbar scoliosis of rapid evolution in adolescence.

Treatment: symptomatic and multidisciplinary.

Anesthetic implications 

morbid obesity of the child and the adolescent; diabetes type 2; risk of cardiomyopathy: preoperative echocardiography; check kidney and liver function; hyperreactivity of the airway; visual and hearing impairments. Hypertriglyceridemia is a contraindication to the use of a continuous infusion of propofol.

References : 

-         Marshall JD, Beck S, Maffei P, Naggert JK. 
Alström syndrome. 
Eur J Human Genetics; 2007: 15: 1193-202.

-         Goerler H, Warnecke G, Winterhalter M, Müller C, Ballmann M, Wessel A, Haverich A, Strüber M, Simon A.  
Heart-lung transplantation in a 14-year-old boy with Alström syndrome. 
J Heart Lung Transpl 2007; 26: 1217-8

-         Gottschling S, Larsen R, Meyer S, Graf N, Reinhard H. 
Acute pancreatitis induced by short-term propofol administration. 
Pediatr Anesth 2005; 15: 1006-8.

-         Tiwari A, Tayal S, Ganguly S. 
Alstrom syndrome: a are genetic disorder and its anaesthetic significance. 
Indian J Anaesth 2010; 54:154-6. 

-        Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D et al.
Consensus clinical management guidelines for Alström syndrome.
Orphanet Journal of Rare Diseases 2020;15:253, doi.org/10.1186/s13023-020-01468-8

-                Aslam MZ, O’Meachair A, O’Donnell B.
Anesthetic considerations in Alström syndrome : a case report.
A&A Practice 2021 ; 15e01503

Updated: August 2021