An atypical presentation of Fahr’s disease

Fahr's disease, first described by Karl Theodor Fahr in 1930, is a rare neurodegenerative disorder characterized by bilateral calcification of the basal ganglia and cerebral cortex. Although the average age of onset is between 40 and 50 years, symptoms can occur at any age. A 65-year-old woman presented with gait instability,frequent balance disturbances,and persistent cold feet over the past six months. Neurological examination revealed that she was alert,oriented,and had no significant motor or sensory deficits. No extrapyramidal signs were noted, and her gait was within normal limits. Cranial CT showed multiple calcifications in the bilateral basal ganglia, thalamus, caudate nucleus, and cerebellum.All hematologic, renal, hepatic, and thyroid function tests were within normal limits. This case highlights the asymptomatic nature of Fahr's disease in some individuals and reinforces the importance of long-term follow-up and early intervention if symptoms develop.

Authors

Publication Details

Journal
The Atlantic Journal of Medical Science and Research
Published
2025-01-01
DOI
https://doi.org/10.5455/atjmed.2025.03.03
Primary Topic
Thyroid and Parathyroid Surgery
Type
article
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article

An atypical presentation of Fahr’s disease

İlhan Yıldırım, Alina Bora
The Atlantic Journal of Medical Science and Research
Thyroid and Parathyroid Surgery
article

An atypical presentation of Fahr’s disease

İlhan Yıldırım, Alina Bora
article en

Abstract

Fahr's disease, first described by Karl Theodor Fahr in 1930, is a rare neurodegenerative disorder characterized by bilateral calcification of the basal ganglia and cerebral cortex. Although the average age of onset is between 40 and 50 years, symptoms can occur at any age. A 65-year-old woman presented with gait instability,frequent balance disturbances,and persistent cold feet over the past six months. Neurological examination revealed that she was alert,oriented,and had no significant motor or sensory deficits. No extrapyramidal signs were noted, and her gait was within normal limits. Cranial CT showed multiple calcifications in the bilateral basal ganglia, thalamus, caudate nucleus, and cerebellum.All hematologic, renal, hepatic, and thyroid function tests were within normal limits. This case highlights the asymptomatic nature of Fahr's disease in some individuals and reinforces the importance of long-term follow-up and early intervention if symptoms develop.

The Atlantic Journal of Medical Science and ResearchVol. 5(2)
Good health and well-being
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Thyroid and Parathyroid Surgery
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