Fucosidosis

Prevalence: < 1.106. Autosomal recessive transmission of a mutation of the FUCA1 gene (1p34) coding for α-fucosidase. This  is a lysosomial disease due to α-fucosidase deficiency. Its synthesis is also under the control of a pseudogene located on chromosome 2 and the FUCA2 gene (chromosome 6) regulates the activity of α-fucosidase in fibroblasts. 

Two types:

-        type 1: onset between 3 and 18 months, mental retardation, seizures, loss of NaCl in sweat. Lethal during the first decade.

-         type 2: onset between 1 and 2 years, mental retardation, angiokeratomas appearing around 10 years of age, crooked conjunctival vessels, sometimes anhydrosis but normal sweat NaCl content

In both types: coarse facial features, growth retardation, multiple dysostosis, hepatosplenomegaly. At MRI: anomalies of the globus pallidus and the thalamus. Ovoid vertebrae.


Anesthetic implications: 

risk of difficult intubation (macroglossia); risk of hyperthermia due to dysfunction of the sweat glands; recurrent pulmonary infections; kyphosis and lordosis and vertebral anomalies can make a neuraxial block technically difficult to achieve; check the cardiac and hepatic functions.


References : 

-        Abdallah C, Hannallah R, McGill W. 
Anesthesia for fucosidosis. 
Pediatr Anesth 2007; 17: 994-7.


Updated: November 2018