Autopsy Findings in the Prader-Willi Syndrome

Abstract

Autopsy findings in two cases of Prader-Willi syndrome were described. Case 1. was a 4–3/12 year-old boy who had hypotonia in the neonatal period, hypogonadism, mental retardation and obesity. Autopsy revealed edema, congestion and focal bleeding in the lung, cardiac hypertrophy, localized degeneration of corpus callosum, nesidioblastosis, fatty liver and absence of testicular tissue. Case 2. was a3–11/12 year-old boy who had hypotonia in the neonatal period, hypogonadism, mental retardation, obesity and recurrent respiratory tract infections. Autopsy revealed multiple thrombosis, pulmonary changes including edema, congestion, focal bleeding and infarcts, cardiac hypertrophy, fatty liver and absence of testicular tissue. These findings were thought to be summarized in the following three categories; 1) terminal changes characterized by pulmonary edema and congestion and cardiomegaly probably due to respiratory failure, 2) aquired changes due to metabolic abnormalities in this syndrome including fatty liver, nesidioblastosis and focal degeneration of the central nervous system; and 3) congenital abnormalities characterizing hypogonadism. (Acta Paediatr Jpn 23(3):289–293 1981)