First case of Fahr's disease with homozygous mutations of SLC20A2, among the Libyan children.

backgroundFahr’s disease is a rare neurodegenerative condition characterized by a combination of neurological and psychiatric manifestations, along with diffuse brain calcifications. It primarily affects adults and older individuals with heterozygous mutations of the Solute Carrier Family 20 Member 2 Gene (SLC20A2). Few cases have been reported in the pediatric population, typically associated with biallelic mutations. This study presents the first national report of Fahr’s disease in two Libyan children, aged five and three years, respectively. Both siblings exhibited similar symptoms, including global developmental delay, psychomotor retardation, bilateral cataracts, and acquired microcephaly. CASE PRESENTATION: The first child showed no major concerns until four months old when parents noticed he was not able to fix or follow. A local examination revealed bilateral white pupils, and the child exhibited a delay in social milestones and cognitive impairment. The child later developed spastic quadriplegia with choreoathetotic movements. The second child also had a normal early history until three months old when seizures began. Bilateral white pupils were also noticed on local examination. He also exhibited early delays in milestones, and later severe psychomotor retardation and global developmental delay. Imaging revealed diffuse brain calcifications, volume reduction, and brain atrophy. Genetic testing confirmed biallelic mutations of SLC20A2:c.344 C > T (p.T115M).

conclusionsThe pediatric phenotype of Fahr’s disease is a newly recognized emerging neurodegenerative condition that results in severe progressive neurological dysfunction alongside brain calcifications. It should be considered in children presenting early with developmental delay or regression in milestones. Further research studies are necessary to understand the clinical implications of different SLC20A2 mutations.