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- Title
Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature.
- Authors
Monticelli, Matteo; De Marco, Raffaele; Garbossa, Diego
- 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.
- Subjects
B cell lymphoma; MICROPHTHALMIA; LITERATURE reviews; DECOMPRESSIVE craniectomy; SYNDROMES; CEREBRAL infarction; GENITOURINARY diseases
- Publication
Child's Nervous System, 2021, Vol 37, Issue 8, p2713
- ISSN
0256-7040
- Publication type
Article
- DOI
10.1007/s00381-020-05035-1