Topic outline

  • Grand Rounds

    A teenager with a history of Kabuki Syndrome presents to the ophthalmology clinic for evaluation of bilateral ptosis and eye rubbing, and epiphora. Best corrected visual acuity is 20/40 bilaterally, intraocular pressure is soft to palpation, and pupils are equal, round, and reactive without an afferent pupillary defect. Extraocular motility is notable for a right hypotropia, however are full in the left eye. Slit lamp examination reveals ectropion of the lower lids, horizontal enlargement of the palpebral fissures, ptosis, and moderate levator function in the right eye and poor levator function in the left eye. The patient has mildly blue tinted sclerae, and corneas have an inferior pannus. Otherwise, the anterior examination is unremarkable. Posterior dilated examination reveals mild temporal pallor of both optic nerves. Genetic analysis shows a novel pathogenic single nucleotide frameshift deletion in the KMT2D gene c.6177del (p.Tyr2060Thrfs*34) causing a premature stop codon. Surgical repair of the ptosis and lower lid euryblepharon is performed, including a bilateral lateral tarsal procedure, left frontalis sling with silicone implant, and right external levator advancement. Post-operative course is complicated by a right-side hematoma 2 hours after completion of the case. He was brought back to the operating room for emergent hematoma drainage. There are many reports in the literature of autoimmune conditions, particularly chronic ITP, affecting nearly 10% of children with Kabuki Syndrome. While previously thought to be only in those with missense mutations in the terminal regions of KMT2D, few recent cases report chronic ITP in those with frameshift mutations as in our patient. This patient historically had low platelets measuring between 70k-110k, but preoperative CBC was not collected. Despite a favorable post-operative outcome, this case highlights the importance of careful pre-operative assessment for bleeding risk in patients with Kabuki Syndrome.

    Presentation Date: 08/15/2024
    Issue Date: 08/23/2024