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Movement disorders, mostly dystonia, sometimes occur in heterozygotes for Wilson's disease (WD). A patient with metabolic abnormalities suggestive of heterozygote for WD and dystonia is reported. His niece showed the typical neurological and metabolic abnormalities of WD. This rare coincidence and the etiopathogenic mechanisms involved are discussed.

Norman & Tingey (1966) reported a new syndrome of micrencephaly, strio-cerebellar calcifications and leucodystrophy and in 1968, Lyon & col. reported the same syndrome plus dwarfism. These authors did not describe cerebrospinal fluid (CSF) alterations. In 1984, Aicardi & Goutièrres described 8 children from 5 different families with a syndrome like above referred to but with chronic CSF lymphocytosis; all patients had a progressive evolution, with familial character, with probable autosomic recessive heritage. It is the purpose of this report to relate a case similar to Aicardi & Goutièrres' cases in a male caucasian patient of jewish ashkenazim origin with 6 and a half month of age, but with a study of CSF lymphocytes T and B. Diminished T-subpopulations of active and avid-T were found suggesting local signalization of antibodies in the central nervous system. The differential diagnosis and that strange combination of a probable genetic etiology and an immunitary process revealing a local inflammatory process are discussed.

Two cases (siblings) with computed tomography showing slow attenuation of basal ganglia are reported. In case 1 the abnormality is larger, bilateral and the most important neurological features are: dystonic postures mainly in lower extremities and very active patellar reflexes with sustained knee clonus on both sides. In case 2 the tomographic examination disclosed a similar, but more discrete lesion only on the left side; the neurological examination is normal despite a history of frequent falls. The authors discuss the differential diagnosis from a clinical and tomographic approach.