[MIM 260 400]

(Burke syndrome, Shwachman disease, Swhachman syndrome, Swhachman-Bodian syndrome)

Autosomal recessive transmission of a mutation of the SBDS gene located on chromosome 7.

Association:

-        malabsorption caused by exocrine pancreatic insufficiency due to a pancreatic lipomatosis

-        hematological abnormalities: neutropenia with reduction of chemotaxis, sometimes anemia and thrombocytopenia

-        growth retardation and in 50 % of cases, chondrodysplasia ( metaphyseal dysostoses, costal abnormalities, pectus carinatum).

Risk of infections, aplastic anemia and acute myeloid leukemia. There is often ichthyosis and psychomotor retardation. Sometimes fatty liver or hepatic fibrosis.

Anesthetic implications:

check the bone marrow parameters and liver function. Strict asepsis and antibioprophylaxis. Risk of subglottic stenosis?

References:

-        Tamhane P, Newton NI, White S. 
Anaesthetic management of quinsy in a patient with Shwachman-Diamond syndrome. 
Anaesthesia 2003; 58: 821.

-         Rothbaum R, Perrault J, Vlachos A, Cipolli M et al. 
Shwachman-Diamond syndrome: report from an international conference. 
J Pediatr 2002; 141: 266-70.

-        Keereweer S, Appel IM, Hoeve LJ. 
Subglottic stenosis in Shwachman-Diamond syndrome: is there a link? 
Int J Pediatr Otorhinolaryngol 2012; 76: 1531-2.

Updated: September 2018