Fahr's syndrome is a neurodegenerative disorder characterized by abnormal deposition of calcium in the brain, especially in basal ganglia. The term Fahr's disease is used when primary familial brain calcification is present, and the term Fahr's syndrome is used for secondary causes. Our patient is a 35-year-old male who presented to our hospital with complaints of two episodes of generalized tonic-clonic seizures. He had a history of recurrent episodes of seizures since the age of 15 and they all were generalized tonic-clonic seizures. He did not have a family his-tory of epilepsy. Lab investigations showed a normal hemogram, and liver and renal function were within normal limits. Serum electrolyte levels showed hypocalcemia, but other electrolyte levels were normal. He had low parathyroid hormone levels and normal levels of vitamin D. Brain imaging studies with non-contrast CT and a contrast-enhanced MRI showed bilaterally symmetrical dense calcifications. The etiology in our patient was the primary hypoparathyroidism and was treated accordingly. He reported symptomatic improvement with treatment and had no episodes of seizures after the commencement of the treatment. So, in cases of Fahr's syndrome, treatable etiologies must be ruled out as they can delay the progression of the disease.
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http://dx.doi.org/10.7759/cureus.22189 | DOI Listing |
Fahr's syndrome (FS) is a rare disorder characterized by intracerebral calcification, presenting with various neuropsychiatric symptoms. This case highlights a rare presentation of FS with secondary hyperparathyroidism. It underscores the importance of comprehensive evaluation of early symptoms, effective use of diagnostic procedures, and proper management of symptoms.
View Article and Find Full Text PDFFahr's syndrome is a rare neurological disorder that shows up as calcium deposits in the brain, affecting motor control and cognitive functions. In this case report, a 45-year-old woman with schizophrenia was diagnosed with Fahr's syndrome, which can be challenging to diagnose due to coexisting neurological comorbidity.
View Article and Find Full Text PDFInt J Mol Sci
October 2024
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an 710000, China.
Front Genet
August 2024
Department of Neurology, Qujing First People's Hospital, Qujing, Yunnan, China.
This study reported a case of MELAS syndrome presenting as the initial imaging characteristics of Fahr's syndrome with "near" sudden unexpected death in epilepsy (SUDEP) and lateralized periodic discharges (LPD). The patient, a young boy, experienced loss of consciousness 2 days prior, which was followed by two limb and facial convulsions. He was later found in cardiac arrest during hospitalization, but regained consciousness gradually after receiving cardiopulmonary resuscitation and tracheal intubation.
View Article and Find Full Text PDFAJNR Am J Neuroradiol
January 2025
Department of Radiology (W.P.T.M.M., M.J.C.B., S.V.d.L., D.R.R., S.M.U.V. P.A.d.J.), University Medical Center Utrecht, Utrecht, the Netherlands.
Background And Purpose: The total calcification score (TCS) is a visual rating scale to measure primary familial brain calcification (PFBC)-related calcification severity on CT. We investigated the inter- and intrarater agreement of a modified TCS.
Materials And Methods: Patients aged ≥18 years with PFBC or Fahr syndrome who visited the outpatient clinic of a Dutch academic hospital were included.
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