Unveiling a rare co-occurrence: Marinesco-Sjogren syndrome and Griscelli syndrome type 3 with novel mutations in a child presenting with cataract – A unique case report

This case report describes a child with the coexistence of Marinesco-Sjögren syndrome (MSS) and Griscelli syndrome type 3 (GS3). A 9-year-old female with developmental delay and silvery hair had bilateral cataract and esotropia. Isolated finding of silvery hair was found in family members. Light microscopy features of the hair shaft were typical of Griscelli syndrome. Confirmation of GS3 was done by genetic sequencing, which also revealed SIL1 gene mutation, seen in MSS. This case underscores the intricacy of clinical findings and highlights the importance of genetic analysis in achieving an accurate diagnosis.