[MIM 222 470, 614 602]

(syndromic congenital secretory sodiumdiarrhea, DIAR3)

Prevalence < 1.106. Autosomal recessive transmission of a mutation of TTC37 gene (5q15) (60%) or SKIV2L  (6p21.3) (40%) that are part of the protein complex SKI involved in the degradation of aberrant mRNA.

Besides abundant diarrhea that begins before the age of 6 months, there is:

-        intrauterine growth retardation: 70% of cases are below P < 10

-        prematurity: 50%

-        woolly depigmented hair (trichorrhexis nodosa)

-        facial dysmorphy: hypertelorism, prominent forehead and cheeks, wide nasal bridge

-        liver disease (70%): fibrosis, cirrhosis, siderosis

-        immune deficit: low or normal IgG level with reduction of the humoral immune response

-        cafe-au-lait spots on the lower part of the body

-        very elastic skin

-        congenital heart disease (25%)

-        morphological abnormalities of platelets (20%) but without functional impact

At histology, villous atrophy is aspecific with a mononuclear infiltrate of the lamina propria.

Treatment: parenteral nutrition is often necessary. Frequent death.

Anesthetic implications:

check hydration and electrolytes; associated effects of parenteral nutrition: vascular thrombosis, repeated sepsis, liver involvement (cholestasis, progressive fibrosis and biliary cirrhosis).

References:

•        Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP:
  Syndromic (phenotypic) diarrhea in early infancy.
  Orphanet J Rare Dis. 2008, 3: 6-10.

Updated: October 2016