Muhammad Raghib1, Yasho Gondi2, Mohanad Ahmad2, Noor Abdulla2, Karen Krajewski2, Derek Grayson3, Mona Elsayed2, Kumar Rajamani2
1Neurology, Wayne State University, 2Wayne State University, 3Department of Neurology - WSU/DMC
Objective:
To illustrate the heterogeneous clinical presentations of Fahr’s syndrome and highlight the variability in age of onset, symptomatology, family history, genetic analysis, and appropriate diagnostic evaluations.
Background:
Fahr’s syndrome (idiopathic basal ganglia calcifications) is a rare neurological disorder (estimated prevalence <1 per 1,000,000) characterized by abnormal calcium-phosphate deposits primarily in the basal ganglia. The hereditary disease with autosomal dominant inheritance (primary familial brain calcification (PFBC) form accounts for roughly half of Fahr’s syndrome cases, while a small percentage is sporadic in nature with no metabolic or other underlying causes identified. The non-hereditary/secondary causes of basal ganglia calcifications must be considered before diagnosing Fahr’s syndrome.
Design/Methods:
We performed a retrospective review of five adult cases diagnosed with Fahr’s syndrome at our center. All cases underwent neuroimaging, laboratory screening for metabolic causes, and genetic testing.
Results:
Five adult cases (4 Female and 1 Male) with ages ranging from 26 to 64 were identified. All five cases had symmetric bilateral calcifications of the bilateral basal ganglia confirmed on CT neuroimages. Across these five cases, 3 cases (60%) had a positive family history of similar symptoms, and only 1 case (20%) had an identified pathogenic gene mutation (SLC20A2). An endocrine etiology Hyperparathyroidism was found in 1 case (20%), while the remaining 4 (80%) had normal calcium-phosphorus metabolism. Three cases (60%) had extrapyramidal movement disorders (parkinsonism or tremors); two cases (40%) had progressive cognitive impairment; and two cases (40%) had chronic headaches. Psychiatric manifestations (depression or anxiety) were noted in two cases (40%). This variability in presentations underscores the broad clinical spectrum of Fahr’s syndrome.
Conclusions:
Fahr’s syndrome should be considered in the differential diagnosis of unexplained movement disorders, neuropsychiatric symptoms, or dementia across a broad age range. Early recognition and appropriate work-up can facilitate accurate diagnosis and management of this rare disorder.
Disclaimer: Abstracts were not reviewed by Neurology® and do not reflect the views of Neurology® editors or staff.