Síndrome de calcificações dos gânglios da base, leucodistrofia e pleocitose linfomonocitária crônica do líquido cefalorraqueano: registro de um caso

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.

Computerized tomography findings in Fahr's syndrome

“…This kind of abnormality is related with many etiologies that can be classified as inflammatory (CMV infection, neurocysticercosis, toxoplasmosis, neurobrucellosis, tuberculosis, HIV infection), tumoral (astrocytomas), hypoxic and vascular (arteriovenous malformations calcified infarct, ischemic encephalophaty), endocrine (hypoparathyroidsm, pseuso and pseudohypoparathyroidism, hyperparathyroidism), toxic (CO and Pb intoxication, hypervitaminosis D, radiotherapy), metabolic and degenerative (senility, mithocondrial encephalopaties, leukodistrophic diseases, idiopathic familial, motor neuron disease, myotonic muscular dystrophy, carbonic anidrase deficit, biopterin deficit) and other (malabsorption, Down syndrome, lupus, tuberous sclerosis, arthrogriposis) [8][9][10][11][12][13] .…”