Abstract Details

Title Clinical Spectrum of Fahr’s Syndrome: A Case Series

Topic General Neurology

Presentation(s) P4 - Poster Session 4 (8:00 AM-9:00 AM)

Poster/Presentation
Number 7-007

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.

Authors/Disclosures
Muhammad F. Raghib, MD (Wayne State University) PRESENTER	Dr. Raghib has nothing to disclose.
Yasho C. Gondi, MD, MBBS	Dr. Gondi has nothing to disclose.
Mohanad Ahmad, DO	Dr. Ahmad has nothing to disclose.
Noor Abdulla, MD	Noor Abdulla, MD has nothing to disclose.
Karen Krajewski, MS, CGC	Ms. Krajewski has nothing to disclose.
Derek Grayson, MD (Department of Neurology - WSU/DMC)	Dr. Grayson has nothing to disclose.
Mona Elsayed, MD	Dr. Elsayed has nothing to disclose.
Kumar Rajamani, MD, FAAN	Dr. Rajamani has nothing to disclose.

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