[MIM 200 100]

(severe early onset hypobetalipoproteinemia, Bassen-Kornzweig disease)

Prevalence estimated at 1/1 000 000. This disease is part of the neuroacanthocytoses. Autosomic recessive transmission of mutations of both allels of the MTP gene (4q24). Other severe and early onset forms of familial abetalipoproteinemia are the result of the codominant transmission of mutations of both allels of the APOB gene (2p24-p23). Abetalipoproteinemia is a severe form of familial hypobetalipoproteinemia (see that item) characterized by :

-        low blood levels of apolipoprotein B (ApoB)

-        absence of chylomicrons

-         LDL hypocholesterolemia.

Clinical manifestations appear during the first year of life or early infancy: failure to thrive, hepatomegaly with steatosis, diarrhea with steatorrhea and malabsorption of fats; moreover acanthocytosis of red blood cells, low blood levels of liposoluble vitamins l (ADEK), major hepatic cytolysis majeure (sometimes leading to cirrhosis) can be observed.

In the absence of treatment, spinocerebellar ataxia, neurosensorial peripheral neuropathy (secondary to demyelinisation), typical retinitis pigmentosa, muscular weakness, and  cyphoscoliosis develop during adolescence.

Diagnosis : blood lipids level after 12 h of fasting. Other diagnoses to be considered : metabolic diseases with hepatic overload and steatosis and or hepatomegaly, atypical neuropathies, secondary hypocholesterolemia. 

Treatment :

-        fat-poor diet to decrease steatorrhea

-        high doses of vitamins A and E to prevent neurologic and ocular sequelae.

anesthetic implications: 

check hemostasis  (vitamin K deficiency ?)  and hepatic enzymes; neurologic problems ?

References : 

-        Patterson JK, Esch M, Stephens JR. 
An unusual cause of failure to thrive in an infant with vomiting and elevated transaminases. 
Clin Pediatr 2014; 53: 1299-1301.

Updated: December 2019