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

Matteo Monticelli,Raffaele De Marco,Diego Garbossa

doi:10.1007/s00381-020-05035-1

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.

Highlights

Lenz microphthalmia syndrome (LMS) is a rare genetic disorder, inherited in an X-linked fashion. Since it first appeared in the scientific landscape, LMS was considered as an allelic variant of the oculofaciocardiodental (OFCD) syndrome, another and better-understood X-linked microphthalmia syndrome, known as MCOSP2, caused by a mutation in the B cell lymphoma (BCL-6) corepressor (BCOR) gene
Lenz microphthalmia syndrome is a genetic disorder inherited in an X-linked recessive pattern
More information have been obtained about the gene involved in these types of syndromic conditions: mutations, such as deletions or insertions/deletions with frameshift in BCL-6-interacting repressor (BCOR) gene, are usually cause by a spectrum of syndrome among which there is LMS

Summary

Introduction

Lenz microphthalmia syndrome (LMS) is a rare genetic disorder, inherited in an X-linked fashion Since it first appeared in the scientific landscape, LMS was considered as an allelic variant of the oculofaciocardiodental (OFCD) syndrome, another and better-understood X-linked microphthalmia syndrome, known as MCOSP2, caused by a mutation in the B cell lymphoma (BCL-6) corepressor (BCOR) gene. It is not the aim of this paper to deepen the molecular aspect of this condition but, generically speaking, the product the BCOR gene seems to be essential during the early process of embryogenesis, in the development of the eye and, variably, in other organs as well. Other few cases have been reported, but none of them got involved with the neurosurgical field [12–21]

Materials and methods

Conclusion

Compliance with ethical standards