Indira Gandhi Institute of Child Health Reports Findings in Neuronal Ceroid Lipofuscinoses [A Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and...].

A recent study conducted at the Indira Gandhi Institute of Child Health in Karnataka, India, reported a rare case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1) in a 3-year-old boy. The child presented with seizures, delayed development, vision impairment, and various neurological symptoms. The study identified complex-1 mitochondrial deficiency in the child, a novel association not previously reported in the literature. Treatment involved a combination of medications and supplements, leading to some improvement in the child's condition. [Extracted from the article]