Inheritance: autosomal recessive (siblings may be affected but parents are not)
Clinical findings:
(1) spinocerebellar ataxia
(2) peripheral neuropathy
(3) pigmentary retinal degeneration
(4) generalized muscle weakness due to ceroid myopathy
(5) severe fat malabsorption with steatorrhea
(6) yellowish discoloration of the duodenal mucosa with vacuolization of enterocytes
(7) fat accumulation in liver with mild hepatomegaly and steatosis
(8) vomiting, diarrhea and failure to gain weight during infancy
(9) bleeding
(10) kyphoscoliosis and lordosis
(11) malnutrition
(12) acrodermatitis enteropathica associated with fatty acid deficiency
(13) increased risk for oxalate urolithiasis
Laboratory findings:
(1) virtual absence VLDL and LDL
(2) anemia with acanthocytosis (acanthocytosis may reverse with chlorpromazine therapy)
(3) prolonged PT and PTT associated with severe vitamin K deficiency
