Pulled into two syndrome (PITS) in a case of congenital fibrosis of the extraocular muscle

A four-year-old child with a clinical diagnosis of unilateral congenital fibrosis of extraocular muscles (CFEOM) was planned for inferior and medial rectus muscle recession surgery, adjusted with the status of forced duction test. Due to pathological changes within the muscles subsequent to innervational abnormality, intraoperatively the inferior rectus muscle was pulled into two following the insertion of muscle hook. Moreover, the snapped muscle fibers could not be identified, thus further surgery was abandoned and an observation was commenced. At the end of 6 weeks, there was a significant reduction in the amount of hypotropia but clinically significant perverted convergence with esotropia necessitated further surgical intervention. A second surgical intervention consisting of medial rectus transposition to superior rectus with 3 mm recession was performed to achieve acceptable results in the primary gaze.

Alterations of Sarcospan Gene in Congenital Fibrosis Syndrome

Congenital fibrosis of the extraocular muscles syndrome [CFEOMS] was genetically related to the region of chromosome 12[p11.2~q12] by linkage analysis. Recently the gene encoding sarcospan, one of transmembrane components of the dystrophinglycoprotein complex which falls within the genetic locus p11.2 of chromosome 12, was suggested to be related with CFEOMS. In this study, we analysed the genetic status[deletion and/or mutation] and the expression of sarcospan gene in 8 CFEOMS patients by using PCR[polymerase chain reaction], RT[reverse transcription]-PCR and PCR-SSCP[single strand conformational polymorphism] analysis. In PCR and PCRSSCP analysis, we could not detect any deletion or mutation in exon 3 of sarcospan, and in RT-PCR, 3 out of 4 CFEOMS samples were found to be slightly the increased expression of sarcospan gene compared to that of normal control. In conclusion, the genetical relationship between sarcospan gene and CFEOMS could not be related with deletional and mutational events of sarcospan gene. Even though, sacospan gene showed slightly the increased expressional patterns in CFEOMS samples, the relationship was difficult to explain because the cases were too small. Taken together, in order to confirm the relationship between sarcospan gene and CFEOMS, analysis of DNA and RNA from extraocular muscle were further needed.