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Fahr syndrome: A case series analysis
Abstract
Fahr disease or Fahr syndrome is a rare neurological disorder characterized by abnormal calcified deposits in basal ganglia and cerebral cortex. As the disease progresses, it was found that lateral thalamus, dentate nucleus of cerebellum and the frontal cortex get affected as well. Aim of the study was to analyze 5 cases of Fahr syndrome highlighting any possible correlation between the progressive nature of the disease, clinical spectrum and neuroimaging data.
Methods
Five patients aged 19, 31, 43 and 53 and 56 were studied in Albania. They were hospitalized in the Neurology service, each showing a different clinical spectrum. One patient presented with seizures, another one with headache and two patients developed neuropsychiatric and cognitive disorders. Another patient was hospitalized for an acute stroke. After a thorough evaluation, brain computed tomography scans revealed calcifications in basal ganglia, with one case revealing calcifications in basal ganglia, globus pallidus, cerebellar white matter and frontal subcortical white matter.
Results
Although the progressive nature of the disease is estimated, different neurological manifestations account for different cases. Family history and comorbidities should always be kept in mind when analyzing the neurological signs and symptoms.
Conclusion
No clear cut correlation is found between the progressive nature of the disease, neurological manifestations and neuroimaging data. The concept of frontal subcortical circuits, a system of loops linking the basal ganglia and frontal brain regions, and functional neuroimaging may give additional data regarding the pathophysiology and clinical signs of the disease.
... Por último, causas menos frecuentes son las condiciones neurodegenerativas en las que se incluyen las neuroferritinopatías o varios síndromes como el de Aicardi-Goutières. (5) ...
Introduction: Fahr's disease is a rare pathology characterized by idiopathic calcium deposits in basal ganglia and cerebral cortex. They are generally found in individuals with a wide variety of neurological and psychiatric symptoms. Various syndromes, whether metabolic, hereditary or acquired, are among its possible etiologies.Case report: a 47 – year-old male patient with a personal pathological history of type I diabetes mellitus and hearing loss since the age of 22. It began 2 years ago with psychiatric manifestations characterized by behavioral disorder, aggressiveness and alterations in higher mental functions. These symptoms worsened until psychosis. Given the marked resistance to antipsychotic treatment, a CT scan was performed where calcifications were visualized in the basal ganglia and other areas of the cerebral cortex.Conclusions: neuroimaging is essential for the detection and treatment of these patients in a relevant and appropriate manner.
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