A Surgical Addendum to Complex Congenital Ptosis case with severe Hypotonia
Author: Aleza Andron
Base Hospital / Institution: Shaare Zedek Medical Center
ePoster presentation
Abstract ID: 24-240
Purpose
To present a case of severe congenital ptosis in a hypotonic, syndromatic baby with a novel surgical correction.
Methods
A retrospective case report
Results
We present a case of a 12- month old baby born on week 34, d/t placental abruption. He presented to the ED at 5 months d/p bilateral congenital ptosis. At this point he was undergoing a genetic workup due to failure to thrive, and severe developmental delay. He was fed via a feeding tube. On exam, severe ptosis covering visual axis, when trying to open eyes frontalis use. Urgent frontalis sling surgery was performed. Post- surgery eyes were opened slightly os more than od, pupil was visible and not clear if he is fixing and following. Three months post op recurrent ptosis, mrd -0 ou and no frontalis use. On neuro–ophtho exam partial fix and follow with intermittent nystagmus. The Genetic workup revealed 3 P deletion syndrome; developmental delay, general hypotonia and laryngiomacia. one of the genes in the deletion causes VHL syndrome with retinal hemangioblastomas. On MRI, general dimorphism of brain with thinning of the corpus collosum. The patient was resent to for surgery. This time, d/t lack of use of frontalis a direct brow lift was planned along with revision of the frontalis sling. In surgery, when removing the suprabrow tissue, fatty infiltration was seen on all of the frontalis muscle, explaining the lack of frontalis use. Surgery was performed on the right eye, which was more severe. Post-surgery visual axis was open all scars healed well.
Conclusion
This case presents an addition of a direct brow lift as a surgical addendum to the frontalis sling in cases where there is lack of frontalis use due to severe developmental delay and hypotonia.
Additional Authors
First name | Last name | Base Hospital / Institution |
---|---|---|
Elena | Drabkin | Shaare Zedek Medical Center |
Udi | Reich | Shaare Zedek Medical Center |
Shaare Zedek Medical Center |