ESPE Abstracts

Background: Fahr's syndrome is a rare neurological disorder, characterized by symmetric calcifications in basal ganglia, cerebellum, and cerebral cortex, secondary to genetic, infectious, and autoimmune etiologies which can lead to movement and gait disorders, cerebellar and speech abnormalities, and cognitive impairment. Fahr's disease is defined as primary familial idiopathic calcification, while Fahr's syndrome is caused by secondary factors ...

Background: Congenital Hypothyroidism stands as the most common congenital endocrine disorder in childhood and a leading preventable cause of mental retardation. Despite its prevalence, global newborn detection rates remain suboptimal. The main hurdle in implementing newborn screening in Pakistan is lack of healthcare infrastructure coupled with lack of prevalence data and economic crises. The Aga Khan University Hospital spearheaded congenital hypothyroidism ...