(Kamouraska syndrome)
Acronym for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia.
Formerly called: variable type 3 erythrokeratodermia.
Very rare. Initially reported in patients of French origin living in the Kamouraska region in Quebec. Recessive autosomal transmission of a mutation of the AP1S1 gene (7q22.1) coding for a sub-unit of the AP-1 adapter complex, involved in the intracellular transport of the copper-carrying proteins. This syndrome includes some signs and symptoms of Menkes and Wilson's diseases, two other abnormalities of the copper metabolism.
Characterized by:
- intellectual deficit: cerebral atrophy and sometimes abnormalities of the basal ganglia (on MRI)
- enteropathy: severe diarrhea
- liver damage: hepatomegaly, cholestasis, liver fibrosis and cirrhosis
- sensorineural deafness,
- peripheral neuropathy,
- lamellar and erythrodermic ichthyosis: pale skin dotted with erythematous patches of varying size (cheeks, eyelids, neck, chest, arms)
- keratodermia: hyperkeratosis of the extension surfaces
- facial dysmorphism: high forehead, mongoloid-like palpebral fissures, low set ears
- biology: low plasma ceruloplamin level and high level of free plasma copper, increased plasma levels of very long chain fatty acids
Anesthetic implications:
check liver function; risk of hypovolemia and hypoprotenemia
References :
- Martinelli D, Travaglini L, Drouin CA et al.
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
Brain 2013; 136: 872-81.
Updated: December 2019