Abstract

Fahr's Disease (FD) is a rare, genetically dominant pattern with incomplete age-related penetrance. Still, it could also be transmitted as an autosomal recessive or sporadic patterns. Fahr’s disease is a neurological disorder depicted by abnormal calcifications in the brain. Although it is thought to be caused by congenital disorders, endocrine disorders, mitochondrial dysfunctions, or infections, the cause of Fahr’s disease involves four genes with loss-function mutations. Case report: Here, we present the case of a 39-year-old patient, a rare case in which the patient was misdiagnosed. Initially, the patient presented with a history of essential tremors, frequent falls, knee pain, back pain, lower extremity paresthesia and weakness, urge incontinence of urine, anxiety, depression, and morbid obesity. The patient was diagnosed with Turner’s, Leukodystrophy, and Mitochondrial Disease despite the patient having multiple brain magnetic resonance imaging (MRI) showing diffused white matter. The patient has never had an official testing or diagnosis of Fahr’s disease, and her symptoms have been managed with primidone, baclofen, gabapentin, and selective serotonin reuptake inhibitors (SSRI).