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