title: [Syndrome of calcifications of basal ganglia, leukodystrophy and chronic lymphomonocytic pleocytosis of the cerebrospinal fluid: report of a case].
abstract: 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.
mesh_terms: D001480:Basal Ganglia Diseases / Q000175:diagnosis / Q000235:genetics*; D002114:Calcinosis / Q000175:diagnosis / Q000235:genetics*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008218:Lymphocytosis / Q000134:cerebrospinal fluid* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D013577:Syndrome
vernacular_title: Síndrome de calcificações dos gânglios da base, leucodistrofia e pleocitose linfomonocitária crônica do líquido cefalorraqueano: registro de um caso.