Author(s)

Qicheng Qiao¹, Xinlu Tan¹, Qiubo Li^2*

¹Clinical Medicine College, Jining Medical University, Jining, China.
²Departments of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, China.

Background: Fahr’s disease, also recognized as Idiopathic Basal Ganglia Calcification (IBGC) or Primary Familial Brain Calcification (PFBC), was first identified by the German neurologist Karl Theodor Fahr in 1930. This rare condition, which involves the calcification of the basal ganglia and presents significant treatment challenges, is most commonly diagnosed in middle-aged adults and is notably uncommon in children. Purpose: We report a case of a younger patient and review this disease as an aid to early detection and diagnosis of the disease. Case Introduction: In this report, we present a unique case of Fahr’s disease in a child, where epilepsy manifested as the initial symptom during infancy. In this report, we present a case of Fahr’s disease in a child who presented with epilepsy as the first symptom in infancy. The child had no imaging abnormalities at the onset of the seizure, and subsequent antiepileptic drugs were reduced and discontinued, and when the seizure recurred 3 years later, a perfect cranial CT revealed symmetrical calcifications in the brain, which gradually worsened, and subsequently the child was unable to take care of himself and had regression of his psychomotor development, and the family requested discharge from the hospital, and then the child died during the follow-up visit. Conclusion: The disease is currently associated with a number of disorders for which there is no specific treatment, and half of all patients currently have a well-defined gene, emphasizing more importantly the importance of genetic counseling for parents known to be at risk prior to conception.

Fahr, Primary Familial Brain Calcification, Epilepsy

Qiao, Q. , Tan, X. and Li, Q. (2024) A Case of Fahr’s Disease with Epilepsy as the First Symptom in Infancy. Case Reports in Clinical Medicine, 13, 101-107. doi: 10.4236/crcm.2024.134012.