HEREDITARY CERULOPLASMIN DEFICIENCY - CLINICOPATHOLOGICAL STUDY OF A PATIENT

A 58 year old patient with dementia, oral dyskinesia, and diabetes mel litus is described. He had an undetectable concentration of serum caer uloplasmin, as an autosomal recessive trait. Brain MRI disclosed a pro nounced hypointensity in the bilateral putamina, caudate, and dentate nuclei on both T1 and T2 weighted images. Pathological findings were m ainly in those regions of the brain and consisted of neuronal cell los s with gliosis, heavy iron deposition, and spheroids. Visceral organs also had iron deposition, especially severe in the liver and pancreas. The present patient and other recorded cases constitute a clinicopath ological entity of hereditary caeruloplasmin deficiency, different fro m Wilson's disease.