Pradeep Ramulu, MD-PhDDiscussant- Elizabeth Hodapp .pptVIP

JUNE 2000 Pradeep Ramulu, MD/PhD Discussant: Elizabeth Hodapp MD September 28th, 2006 Case Presentation 11 day old AAM, first presented to triage 3/30/06. Born at South Miami Hospital, the first child to a mother with no ocular history Transferred to Baptist Hospital for treatment of imperforate anus Proptosis OS with large, cloudy cornea also noted Past Medical History 37 week product of uncomplicated pregnancy Mother received prenatal care, labor spontaneous + rubella screen during pregnancy, negative HIV, HepB, syphillis Baby delivered by C-section after failure to progress (12 hours post membrane rupture) Apgar scores 9/9 at 1 and 5 minutes At Baptist, diagnosed with imperforate anus and colorectal fistula Day 4, received colostomy Congenital Glaucoma suspected because of large, cloudy cornea and proptosis MRI orbit and brain done, but no results or report available at time of presentation Child had been placed on diamox, discharged 3/29 with follow-up 3/30 at BPEI Triage with glaucoma fellow Exam on Presentation VA – blinks to light OU IOP – soft to palpation OD, firm OS External – Proptosis OS Penlight: Enlarged corneal diameter OS OD Moderate central haze to cornea Follow-up: Diamox continued, EUA scheduled EUA 4/6/06 - Exam IOP (tonopen): OD 11 OS 29 Axial Length (A-scan): OD – 18.0 mm OS – 23.3 mm Corneal Diameter (mm): OD – 10 H x 10 V OS – 12 H x 12.5 V Anterior segment Minimal corneal edema Break in Descemet’s membrane horizontally No clear ectropion uvea EUA – 4/6/06 EUA 4/6/06 EUA – 4/6/06 EUA – 4/6/06 EUA 4/6/06 - Ultrasound EUA 4/6/06 - Ultrasound EUA 4/6/06 - Ultrasound EUA 4/6/06 - Ultrasound Differential Diagnosis Neurofibromatosis Primary Congenital Glaucoma with Buphthalmos Anterior Segment Dysgenesis Sturge-Weber Orbital Lymphangioma Orbital AVMs Orbital Dermoid Capillary Hemangioma Megalocornea Coming clean Mother with known NF-1 Child noted to have café au lait spots in triage Diagnosis of NF-1 not officially made by outside physicia