Autosomal recessive transmission of a mutation (deletion) of the AP1BI gene (22q12.2).

The clinical signs are very similar to those of MELNIK syndrome (Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia), but the signs of liver involvement and peripheral neuropathy are absent or less severe.

Clinical presentation:

  -        intellectual deficit

-        enteropathy: severe diarrhea

-        sensorineural hearing loss,

-        lamellar and erythrodermic ichthyosis: pale skin dotted with erythematous patches of variable size (cheeks, eyelids, neck, thorax, arms)

-        keratoderma: hyperkeratosis of extension surfaces

-        facial dysmorphism: high forehead, mongoloid palpebral fissures, low-set ears

-        biology: low plasma ceruloplamin and low free plasma copper levels, increased plasma levels of very long-chain fatty acids

Anesthetic implications:

check liver function, risk of hypovolemia and electrolyte disorders (diarrhea), fragile skin with difficulty in securing catheters and tubes

References :

-        Alsaif HS, Al-Owain M, Barrios-Llerena ME, Gosadi  G, Yousef B, Devadason D, Ravenscroft J, Suri M, Alkuraya FS.
Homozygous loss-of-function mutations in AP1B1, encoding beta-1 subunit of adaptor-related protein complex 1, cause MEDNICK-like syndrome.
J Human Genetics 2019 ; 105 :1-7 https://doi.org/10.1016/j.ajhg.2019.09.020

Updated: October 2024