Fahr's syndrome is defined by the presence of striato-pallido-dentate calcifications. It is a rare entity with clinical polymorphism, and it occurs in patients with dysparathyroidism, especially those with hypoparathyroidism. It must be distinguished from Fahr's disease (FD), which is defined by the presence of intracerebral calcifications without phosphocalcic metabolism abnormality. In this paper, we report the particulars of five patients diagnosed with Fahr's syndrome revealed by neurological and cognitive disorders, seizures, and abnormal movements associated with tetany crisis. In all cases, brain imaging and biological examinations led to the diagnosis of Fahr's syndrome related to hypoparathyroidism. The evolution was favorable after treatment. Fahr's syndrome is a rare and serious condition for which treatment is simple and effective. Our observations shed light on the necessity of evaluating phosphocalcic metabolism and exploring cerebral calcifications in patients with neurological disorders.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350282PMC
http://dx.doi.org/10.7759/cureus.40502DOI Listing

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Fahr's disease is a rare neurological disorder which is characterized by the presence of abnormal, symmetrical, and bilateral calcifications within the basal ganglia and other cerebral areas. Seizures are 1 of the symptoms that may aid in its diagnosis. Fahr's disease is diagnosed in adults mostly.

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Article Synopsis
  • * A 60-year-old man without prior health conditions experienced first-time generalized seizures and loss of consciousness, prompting a hospital visit where a brain scan revealed calcifications.
  • * He was diagnosed with epilepsy due to FD after meeting specific criteria, and he responded positively to antiepileptic medication, highlighting the need for careful diagnosis in similar cases.
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Fahr's disease, also known as primary familial brain calcification, is a progressive neurological disorder that follows an autosomal dominant inheritance pattern, characterized by calcifications primarily located within the basal ganglia of the brain. This condition typically affects middle-aged individuals, who present with a combination of neurological and psychiatric symptoms; however, this case report discusses a 16-year-old male patient. The patient initially exhibited general signs of infection, including fever and jaundice, before developing specific neurological symptoms, which progressed to systemic encephalopathy characterized by altered consciousness, seizures, and hypoglycemia, necessitating his admission to the ICU.

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