Overview
Primary familial brain calcification (PFBC), also known as Rajab type, is a rare inherited disorder characterized by bilateral calcifications primarily in the basal ganglia, thalamus, and cerebellar nuclei, leading to neurological and neuropsychiatric manifestations 13.Diagnosis
Bilateral brain calcifications, particularly in basal ganglia, thalamus, and cerebellar nuclei 13.
Presence of white matter hyperintensities (WMH) on MRI 2.
Genetic testing for mutations in genes such as PDGFB 23.
Clinical evaluation for movement disorders and cognitive impairments 2.Management
No specific pharmacological treatments targeting calcification directly are well-established 1.
Management focuses on symptomatic relief and supportive care 1.
Monitoring and management of cerebrovascular complications, such as stroke or TIA, may be necessary 2.Special Populations
Pregnancy: Limited data; close monitoring of neurological symptoms and complications is advised 3.
Pediatrics: Early onset and variable clinical presentations necessitate tailored management plans 3.
Elderly: Increased risk of cerebrovascular events; vigilant surveillance for WMH and vascular events recommended 2.
Comorbidities: Focus on managing comorbid conditions like movement disorders and cognitive decline alongside PFBC 2.Key Recommendations
Genetic testing for PDGFB variants should be considered in patients with suspected PFBC to guide diagnosis and family screening 2 (Evidence: Moderate).
Regular neuroimaging (MRI) to monitor progression of brain calcification and white matter changes is recommended 2 (Evidence: Moderate).
Symptomatic treatment should be individualized based on clinical presentation, focusing on movement disorders and cognitive symptoms 2 (Evidence: Expert opinion).References
1 Sridhar S, Zhou Y, Ibrahim A, Bertazzo S, Wyss T, Swain A et al.. Targeting TREM2 signaling shows limited impact on cerebrovascular calcification. Life science alliance 2025. link
2 Yektay Farahmand M, Wasselius J, Englund E, Braverman I, Puschmann A, Ilinca A. Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants. Neurologia i neurochirurgia polska 2024. link
3 Gao L, Chen J, Dong H, Li X. A novel mutation in . The International journal of neuroscience 2022. link