Wolcott-Rallison syndrome
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(Precocious diabetes and multiple epiphyseal dysplasia)
Rare. Autosomal recessive (frequent inbreeding) transmission of mutations of the EIF2AK3 gene which codes for the PERK protein which plays a major role in the endoplasmic reticulum to eliminate malformed proteins, including at the level of the pancreatic β cells and the bone tissue.
Association of:
- diabetes mellitus starting in the neonatal period or in the first 6 months of life; it is associated with hypoplasia of the pancreas but there are no autoantibodies.
- multiple epiphyseal dysplasia associated with short stature: important osteopenia (frequent fractures), epiphyseal dysplasia of long bones, vertebrae (platyspondyly, kyphosis, exaggerated lumbar lordosis) and pelvic bones (coxa vara, femoral head); sometimes, instability of the cervical spine (hypoplasia of the atlas).
- liver disease: recurrent episodes of cytolysis with hepatomegaly with or without cholestasis, triggered by intercurrent infections; histology: progressive fibrosis with steatosis and intrahepatic cholestasis.
Sometimes: neutropenia, exocrine pancreatic insufficiency, hypothyroidism, kidney failure. Highly variable evolution but frequent death in childhood from acute hepatic or multisystem failure.
Anesthetic implications:
Check blood glucose, liver and kidney function. Bone fragility. Caution during mobilization of the neck. Poorly documented notion of increased sensitivity to anesthetic agents. Avoid hepatotoxic drugs.
References:
- Julier C, Nicolino M.
Wolcott-Rallison syndrome.
Orphanet Journal of Rare Diseases 2010 ; 5 : 29
- Senéée V, Vattem KM, Delépine M et al.
Wolcott-Rallison syndrome.
Diabetes ; 2004 : 53 : 1876-83.
- Engelmann G, Meyburg J, Shahbek N, Al-Ali M et al.
Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome.
J Inherit Metab Dis 2008; 31: 540-6.
- Uroic AS, Kotori VM, Putarek NR, Kusec V, Dumic M.
Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome.
Eur J Pediatr 2014; 173: 529-31.
- Romera ACR, Hervias M, Lopez-Gill MT, Tranche I.
Anaesthesia and orphan disease: a child with Wolcott-Rallison syndrome.
Eur J Anaesthesiol 2015 ; 32 : 217-8
Updated: August 2018