Acute infantile liver failure - cerebellar ataxia - sensitivomotor neuropathy, syndrome of

[MIM 616 719]

(CALFAN syndrome, autosomal recessive cerebellar ataxia type 21, SCAR 21)

Prevalence; 1/1.106. Autosomal recessive transmission of a mutation of the SCYL1 gene (11q13.1).


Variable association of:


-        recurrent episodes of acute liver failure occurring during febrile episodes: vomiting, apathy, hypoglycemia, sometimes coma, hepatomegaly. The liver function returns to normal between these episodes but as a result, progressive liver fibrosis and hepatosplenomegaly develop.

-        early-onset cerebellar ataxia (cerebellar atrophy at MRI), difficulties learning and speech

-        mainly motor peripheral neuropathy of later onset

-        sometimes: recurrent respiratory infections


Anesthetic implications:

check the liver function; amyotrophy; risk of respiratory infection


References :


Updated July 2020