An autopsy case of microencephaly, bizarre putaminal lesion, and cerebellar atrophy with heart and liver diseases

We reported a 64-year-old autopsy case, showing a unique combination of disorders in visceral organs and brain. She had developmental delay, microencephaly, and facial dysmorphism. She developed sick sinus syndrome and liver cirrhosis. There were no abnormalities in laboratory tests for congenital metabolic errors or anomaly syndromes, including activities of lysosomal enzymes, isoelectric focusing of serum transferrin or array comparative genomic hybridization. She died of cardiorespiratory failure. At autopsy she showed liver cirrhosis and mesangial proliferation. The brain weighed 710 g. Bizarre putaminal changes were found, in which the size of area of putamen in coronal sections was small, aberrant fiber running was increased, and immunoreactivity for tyrosine hydroxylase was reduced. Loss of Purkinje cells was found throughout the cerebellar cortex. She had unreported combination of developmental delay, facial dysmorphism, small brain, bizarre putaminal lesion, cerebellar atrophy, cardiac disease, liver cirrhosis and renal disease. Although the exact cause of disease still remains to be investigated, it will be a clue for the establishment of new disease entity to accumulate subjects having the similar phenotype.