Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature.

Abstract

Lenz microphthalmia syndrome (LMS) is an allelic X-linked syndrome correlated to a null mutation of B cell lymphoma (BCL-6) corepressor (BCOR) gene, which is essential in the early embryonic development. Phenotypically, this rare hereditary syndrome is characterized by microphthalmia/anophthalmia and other eye disorders; mental disability; dental, ear, and digital abnormalities; and variable malformations affecting the heart, skeleton (limbs and/or spine), and genitourinary tract. In this paper, a case of a young adult with LMS affected additionally by immuno-hematological disturbances was treated with decompressive craniectomy after domestic accidental fall. Case description and a brief review of the current literature about this rare condition are presented here.

• Authors: Matteo Monticelli, Raffaele De Marco, Diego Garbossa
• Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (Childs Nerv Syst) Vol. 37 Issue 8 Pg. 2713-2718 (08 2021) ISSN: 1433-0350 [Electronic] Germany
• PMID: 33491151 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: © 2021. The Author(s).

Topics

• Abnormalities, Multiple
• Anophthalmos (genetics)
• Female
• Humans
• Intellectual Disability
• Microphthalmos (genetics)
• Pregnancy
• Young Adult