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.

Keywords: Decompressive craniectomy; Lenz microphthalmia syndrome; Traumatic brain injury; Traumatic intracerebral hemorrhage.

Fig. 1

CT scan brain trauma survey for traumatic brain injury in LMS case. a From top to bottom, different slices of CT scan at the admission to ED department. b Same slices from top to bottom, registered at 6 h from the first CT scan; it could be noted an increase and a better consolidation of the intraparenchymal hematoma in the right temporal lobe; furthermore, an intraventricular hemorrhage and a worsening of the midline shift toward the left hemisphere are shown. c Postoperative CT scan; the different slices show the result of craniectomy and right temporal ICH evacuation, with significant reduction of midline shift and an initial reappearance of basal cisterns

Fig. 2

1-year radiological follow-up. The CT scan performed at 1 year from autologous bone flap replacement with different CT windows. On the left, the brain window shows the normal evolution of the right temporal intraparenchymal hemorrhage, with a better definition of a porencephalic area and resolution of any hyperdensity. On the right, the bone window highlights the autologous cranioplasty fixated with titanium plaques and screws to the calvaria