Microspherophakia in a Case of Isolated Sulphite Oxidase Deficiency

Abstract

Abstract Isolated sulphite oxidase deficiency is an autosomal recessive hereditary disorder. A 5-month-old male child with neonatal seizures and global developmental delay was referred by a paediatrician for ophthalmological evaluation. On examination, the child was found to have microspherophakia and horizontal nystagmus. Owing to the previous history of lens dislocation and bilateral optic atrophy in the elder sibling, a suspicion of isolated sulphite oxidase deficiency was considered. A biochemical assessment revealed elevated urine sulphite levels with low total homocysteine and serum urate with normal urine xanthine and hypoxanthine levels. Neuroimaging revealed multicystic encephalomalacia. Clinical exome sequencing showed variants in CUX2 and CHD2 genes related to genetic and developmental encephalopathies; however, variations in the SUOX gene were not revealed in this analysis. This case is portrayed on account of uncommon presentation and for depicting the importance of ophthalmic examination as a lead in further evaluation.