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2016 ; 16
(1
): 165
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Bilateral strio-pallido-dentate calcinosis (Fahr s disease): report of seven
cases and revision of literature
#MMPMID27608765
Savino E
; Soavi C
; Capatti E
; Borrelli M
; Vigna GB
; Passaro A
; Zuliani G
BMC Neurol
2016[Sep]; 16
(1
): 165
PMID27608765
show ga
BACKGROUND: Fahr's disease is rare a neurodegenerative idiopathic condition
characterized by symmetric and bilateral calcifications of basal ganglia, usually
associated with progressive neuropsychiatric dysfunctions and movement disorders.
The term "Fahr's syndrome" is used in presence of calcifications secondary to a
specific cause, but the variability of etiology, pathogenesis, and clinical
picture underlying this condition have raised the question of the real existence
of a syndrome. Several classifications based on the etiology, the location of
brain calcifications and the clinical presentation have been proposed. Here we
describe seven clinical cases of basal ganglia calcifications, in order to search
for pathognomonic features and correlations between clinical picture and imaging
findings. CASES PRESENTATION: The patients came to our attention for different
reasons (most of them for memory/behavior disturbances); all underwent
neuro-psychologic evaluation and neuro-imaging. All patients showed variable
degrees of deterioration in cognitive function; anxiety and depression were
frequent too, and resistant to treatment in all cases. Less frequent, but severe
if present, were psychotic symptoms, with different grade of structure and
emotional involvement, and always resistant to treatment. We observed only few
cases of extrapyramidal disorders related to the disease itself; anyway, mild
extrapyramidal syndrome occurred quite frequently after treatment with
antipsychotics. CONCLUSION: Based on these findings we discourage the use of the
term "Fahr's syndrome", and suggest to refer to Idiopathic or Secondary basal
ganglia calcification. Unlike early onset forms (idiopathic or inherited), the
clinical presentation of late onset form and Secondary basal ganglia
calcification seems to be really heterogeneous. Case-control studies are
necessary to determine the actual significance of basal ganglia calcification in
the adult population and in the elderly, in cognitive, physical and emotional
terms.