Bilateral striopallidodentate calcinosis: Clinical characteristics of patients seen in a registry

Abstract

Clinical features in bilateral striopallidodentate calcinosis (BSPDC), popularly referred to as Fahr's disease (five autosomal dominant families and eight sporadic cases, n = 38), recruited through a registry, are reported. Applying uniform criteria, cases reported in the literature (n = 61) were combined for detailed analysis. The mean (+/- S.D.) age of Registry patients was 43 +/- 21 and that of literature was 38 +/- 17. In combined data set (n = 99), 67 were symptomatic and 32 were asymptomatic. Of the symptomatic, the incidence among men was higher compared with women (45:22). Movement disorders accounted for 55% of the total symptomatic patients. Of the movement disorders, parkinsonism accounted for 57%, chorea 19%, tremor 8%, dystonia 8%, athetosis 5%, and orofacial dyskinesia 3%. Overlap of signs referable to different areas of central nervous system (CNS) was common. Other neurologic manifestations included: cognitive impairment, cerebellar signs, speech disorder, pyramidal signs, psychiatric features, gait disorders, sensory changes, and pain. We measured the total volume of calcification using an Electronic Planimeter and Coordinate Digitizer. Results suggest a significantly greater amount of calcification in symptomatic patients compared to asymptomatic patients. This study suggests that movement disorders are the most common manifestations of BSPDC, and among movement disorders, parkinsonism outnumber others.

Fahr’s disease: a rare diagnosis requiring admission to the emergency department

“…Findings in two of three patients show that hypoparathyroidism can result in generalized seizures. The incidence of basal ganglia calcification increases as the duration of hypocalcemia increases, with symptoms of calcification emerging after about 30 years [11]. Replacement of calcium and vitamin D improves metabolic abnormalities and delays clinical progression [12,13].…”

Calcificação nos núcleos da base na tomografia computadorizada: correlação clínica em 25 pacientes consecutivos

“…Existem relatos de manifestações clínicas diversas em pacientes com CNB, tais como: distúrbio do movimento, da linguagem, demência, crises epilépticas sinais cere b e l a res, sinais piramidais, quadros psiquiá-tricos e distúrbios de equilíbrio 2 , 3 , 4 , 8 , 1 2 , 1 4 -1 7 , não havendo clara associação entre esses sintomas ou sinais e a CNB 2,[8][9][10][11][12]14 .…”

“…As calcificações intracranianas são re l a t i v a m e n t e comuns e podem ser fisiológicas ou associadas a várias doenças do sistema nervoso central (SNC) como infecções, anomalias congênitas, distúrbios metabólicas ou processos tumorais, entre outras, e são visualizadas nos exames de tomografia computadorizada de crâ-nio (TC) como áreas de alta densidade 1,2 .…”

Fahr’s Syndrome- An Interesting Case Presentation

“…Among these, Parkinsonism was seen in 57% cases, chorea was seen in 19% cases, tremor was seen in 8% cases, dystonia was seen in 8% cases, athetosis was seen in 5% cases and orofacial dyskinesia was seen in 3% cases. The other neurological manifestations include a cognitive impairment, cerebellar signs, speech disorders, pyramidal signs, psychiatric features, gait disorders and sensory changes [6]. The clinical diagnosis of Fahr's disease is based on the combination of clinical features, brain imaging and on an exclusion of other causes of the intracranial calcification [7].…”