A case of intrahepatic cholestasis with mental and growth retardation, which was considered to be familial, was presented.
The jaundice appeared at the age of 6 months, being preceded by marked steatorrhea, and persisted throughout his life with fluctuation. He died of acute pneumonia after a laparotomy at 2 years 6 months.
The patient had marked itching and steatorrhea which were probably manifestations of bile salt retention, acholic stools, and short stubby hands and foots with thickened and brownish skin.
Biochemical characteristics of the serum were hyperbilirubinemia (over half being conjugated), moderately elevated alkaline phosphatase, slightly elevated GOT and GPT activities and α
2- and β-globulins, and normal to subnormal cholesterol.
There were also marked retention of B.S.P., presence of bilirubin in the urine and decreased fecal excretion of bilirubin and bile salts. Analysis of bile salts in the serum indicated an increase of cholic acid. Normal intra- and extrahepatic biliary passage was confirmed at operation and at autopsy. Light microscopic examination of the liver revealed periportal fibrosis and bile thrombi in the bile canaliculi, and electron microscopic examination of the liver revealed distortion of mitochondrial limiting membrane, dilatation of the bile canaliculi, blunted and diminished microvilli of the canalicular membrane and existence of a number of encapsulated bodies with a speckled appearance of obscure origin.
These conditions of our patient are considered to be similar to those of patients, which have been recently reported by Clayton
et al. (1965), Gray
et al. (1966) and Juberg
et al. (1966), except for some minor differences.
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