DR.SUPRAJA RAMAVATH

DR. RAMAN YENUGANDULA, DR. AKSHATA KALSHETTY, DR.DR. MAMATHA NOOKALA

Abstract

Purpose : To report a rare case of congenital fibrosis of EOM with Kallmann syndrome.

Methods: A 29yr old male presented with BE ptosis and outward deviation since birth. Vision RE HM ; LE 6/12. Fundus RE – pathological myopia ;LE- WNL. RE – rt beat nystagmus.O/W A/S – WNL. HCRT: RE -45°Exotropia 10°hypotropia; LE 10°hypotropia with chin elevation. EOM restricted in all gazes.O/E No secondary sexual characters with h/o anosmia. Karyotyping – 46XY, S.testosterone – low,MRI Brain- elongated configuration of rt globe & normal pituitary gland,USG Scrotum- B/L small testes

Results: Patient diagnosed as CFEOM with Kallmann syndrome cardiac evaluation – normal & advised BE IR recession but he denied surgery

Conclusion: In patients with CFEOM, neurological and cardiac evaluation & regular followup with Endocrinologist is important.Crutch glasses were advised for ptosis instead of surgical correction to prevent lagopthalmos. Appropriate refractive correction should be done every 6months.