Clinico-radiologic profile of patients with Idiopathic Intracerebral Calcifications: Differentiation between Fahr’s Syndrome and Fahr’s Disease.

Abstract

Background: Intracerebral calcification is an unusual degenerative disorder characterized by accumulation of calcium in basal ganglia and other intracerebral sites. The calcifications are usually found in the basal ganglia including caudate nucleus, putamen and globus pallidus.
Aims and Objectives: Describing clinical profile of patients with intracerebral calcifications and also to identify differences in clinic-radiologic manifestations between patients with Fahr’s disease and Fahr’s syndrome.
Material and Methods: We enrolled 22 patients with intracerebral calcifications after obtaining informed consent. These patients were evaluated by history taking, clinical examination and laboratory investigations. The investigations included complete blood counts, liver function tests, kidney function tests, serum calcium level, serum phosphate, serum parathromone, serum vitamin D and thyroid profile. Patients with disorders of calcium metabolism were classified as Fahr’s syndrome and those without such disorders were classified as Fahr’s disease. Various clinical and radiological features were compared between the two groups.
Results: We identified 22 patients with intracerebral calcifications. 3 (59.1%) patients were females, and nine (40.9%) patients were male. Mean [Standard Deviation (SD)] age of these patients was 40.7 (8.1) years (range 25 – 56 years). Median duration of symptoms was 6 years (range 3 months – 11 years). The clinical manifestations were pure psychiatric in 6 (27.3%); pure neurological in 5 (22.7%) and mixed in 11 (50%) patients. The frequencies of various psychiatric presentations were: psychosis in 10 (45.5%) patients; neurosis in 9 (40.9%) patients; mood disorders in 10 (45.5%) patients [which included five patients with mania and five patients with depression]. Neurological presentations were: seizures in 8 (36.4%); extrapyramidal features in 10 (45.5%) patients [which included rigidity, bradykinesia, dystonia and tremors; pyramidal features in 7 (31.8%) patients; and cerebellar symptoms in five (22.7%) patients. The distribution of intracerebral calcification was as follows: caudate nucleus in 22 (100%) patients; putamen 22 (100%); globus pallidus in 22 (100%); cerebellum in 22 (100%); thalamus in 11 (50%) patients; subcortical in 10 (45.5%); and lobar in three (13.6%) patients. 6 out of 22 patients had Fahr’s Syndrome and 16 out of 22 patients had fahr’s Disease. There was no statistically significant difference between clinical and radiologic features between two groups.
Conclusions: The common sites of intracerebral calcification in these disorders include basal ganglia, thalamus, cerebellum and cerebrum. The clinical presentations include psychiatric manifestations and neurological features including seizures and extrapyramidal symptoms. There are no significant clinical and radiological differences between patients with Fahr’s syndrome and Fahr’s disease.
 
Keywords: Neuropsychiatric manifestations