Abstract

Background – Mucolipidosis IV is a Rare autosomal recessive disorder characterized by corneal clouding, intellectual disability, psychomotor retardation, hypotonia and iron deficiency anemia with 80 reported cases so far.
Case Report – 2.5 yr old child born of a consanguineous parents brought by her mother with suspicion of defective vision with developmental delay, and with dysmorphic facies .On ocular examination corneal cloudiness with normal corneal diameters noted. She was found to be anemic .Peripheral smear confirmed with iron deficiency anemia and High serum gastrin levels were noted.MRI Brain was done which showed B/L periventricular white matter gliosis . Genetic analysis showed mutation in the MCOL1 gene .Child was treated with artificial tears , Iron supplementation for anemia and kept on periodic followup.