WOLF-HIRSCHHORN SYNDROME WITH OCULAR MANIFESTATIONS COMPLICATED BY INTER-ORBITAL MASS

Title WOLF-HIRSCHHORN SYNDROME WITH OCULAR MANIFESTATIONS COMPLICATED BY INTER-ORBITAL MASS
Author, Co-Author Eileen Gable
Topic
Year
2012
Day
Program Number
125480
Room
Exhibit Hall E
Affiliation
Loyola University Medical Center
Abstract BACKGROUND: Wolf-Hirschhorn syndrome (WHS), a rare genetic disorder, is associated with partial depletion of the short arm of chromosome 4. The clinical characteristics include high forehead, hypertelerism, short philtrum, poorly formed ears and micrognathia and microcephaly. In addition to the facio-cranial deformities, effected individuals experience delayed growth and development, hypotony, skeletal and dental abnormalities, epidermal deformities, cleft lid and pallet. These features are known as greek warrior helmet. Anomalies have been reported as incomplete formation of the corpus callosum, the cardio -vascular system and urinary tract. Ocular findings include: anterior segment anomalies, iris and retinal colobomas, nystagmus, and optic nerve disease. This unusual case presents with WHS and an orbital lesion limiting his visual prognosis.

CASE REPORT(S): A 21 month old caucasian male with WHS presents for visual evaluation and management of the associated ocular pathologies. There is no measurable response to visual stimulus in the right eye. He is able to fix but not follow with the left eye. The right eye was microphalmic. The left eye exhibited iris coloboma, an inferior retinal coloboma, elevated intra-ocular pressure of 24 mm Hg and C/D ratio of .8/.8. The retinoscopy was -4.00 +4.00 x 180. Radiographic studies show incomplete formation of the corpus callosum with absent splenium and low-density lesion surrounding the right optic nerve. Surgical removal of the orbital lesion was not considered as there was minimal likelihood of improved visual outcome. The advanced cupping and likelihood of angle anomalies contributing to the glaucomatous state warrant aggressive glaucoma management. Visual development warrants creative measures as the patient?s facial features do not support spectacle correctionCONCLUSIONS: The ocular and neurological findings of this rare disorder demonstrate the need for aggressive management of ocular pathology in the presence of developmental anomalies.
Affiliation of Co-Authors
Outline