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Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature
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Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature
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Journal Article
Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature
2021
Overview
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.
Publisher
Springer Berlin Heidelberg
