Chylomicron Retention Disease (CMRD) is a rare malabsorption syndrome associated with a defect of chylomicron secretion from enterocytes.
Symptom onset: during infancy
Gene affected: SAR1B (secretion-associated RAS-related GTPase 1B)
Inheritance: autosomal recessive
Clinical features:
(1) malabsorption of fat with steatorrhea
(2) failure to thrive
(3) diarrhea
(4) vomiting
(5) abdominal distention
(6) malnutrition, including deficiencies in fat-soluble vitamins
(7) variable hepatomegaly
(8) variable hyporeflexia and other neuromuscular problems associated with vitamin E deficiency
(9) poor bone mineralization associated with vitamin D deficiency
(10) variable cardiomyopathy
Laboratory findings:
(1) hypocholesterolemia
(2) low plasma concentrations of vitamins A, D, E and K
(3) low plasma apolipoprotein B
(4) elevated serum CK activity
(5) prolonged INR secondary to vitamin K deficiency
Endoscopic exam shows a whitish "frosting" (gelee blanche) of the duodenal mucosa.
