Early-onset Fahr's disease with atypical presentation of hypoglycemia and headache and fatal outcome in a 16-year-old male: A case report

Abstract

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. Tragically, despite receiving intensive medical treatment, the patient succumbed to the disease, highlighting the challenges associated with diagnosing and managing Fahr's disease, particularly in younger patients.