Normal Pressure Hydrocephalus as an Unusual Presentation of Supratentorial Extraventricular Space-Occupying Processes: Report on Two Cases

Normal pressure hydrocephalus (NPH) is a clinical and radiographic syndrome characterized by ventriculomegaly, abnormal gait, urinary incontinence, and dementia. The condition may occur due to a variety of secondary causes but may be idiopathic in approximately 50% of patients. Secondary causes may include head injury, subarachnoid hemorrhage, meningitis, and central nervous system tumor. Here, we describe two extremely rare cases of supratentorial extraventricular space-occupying processes: meningioma and glioblastoma multiforme, which initially presented with NPH

Navigational guidance in transsphenoidal pituitary adenoma surgery

Objective: To assess whether frameless stereotaxy can further increase safety and efficacy of transsphenoidal microsurgery.Methods: We conducted a retrospective analysis of 29 patients with pituitary adenomas (10 recurrent, 12 micro, 17 macro), who had undergone image guided endonasal transsphenoidal surgery during an 18-month period in the Department of Neurosurgery, Medical University - Sofia, Bulgaria. In the preoperative planning process, the adenoma volume and both carotid arteries were segmented in a MRI/CT-3 D dataset (T1-weighted, 3 D FLASH after Gadolinium). An optical infrared-based neuronavigation system (Vector Vision, BrainLAB®, Heimstetten, Germany) was used in all cases for frameless guidance. Using Z-touch infrared markerless or landmark registration (in 3 cases) a mean calculated accuracy of 1.47±0.4 mm was achieved; intraoperative accuracy was checked every 10 min. Intraoperative records were reviewed with attention to the utility of the navigational guidance.Results: The time requirements for set-up, registration and navigational control were minimal (<16 min). In none of the cases the system did interfere with surgical manipulations. True accuracy at surgery was obtained in 29/30 cases. A mean calculated accuracy of 1.47±0.4 mm was achieved during co-registration (1.45±0.69 mm for MRI-based NN and 1.53±0.64 mm for CT-based guidance), which is in concordance with the data from the literature, using similar navigational system , . The frameless technique was used to determine the midline, the depth and trajectory of the approach, as well as to reduce safely working area (in 29/29); in later stages, it provided fast and correct anatomical orientation in relation to the perisellar structures (24/29). Guidance was especially useful in asymmetrical/atypical microsella (in 9/9 pts), in conchal type of sella (3/3 cases), and helpful in locating accurately eccentric microlesions. Conclusions: We found frameless guidance during transsphenoidal surgery useful in certain occasions: misleading sphenoidal sinus anatomy, narrow/asymmetrical sella, eccentric adenomas with perisellar extension/distortion and re-operations for recurrent/residual tumors with obscured bony landmarks. In macroadenomas, however, the accuracy and reliability of the technique are compromised after debulking due to movements of the adenoma capsule

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

Our previous genome-wide association study (GWAS) for sagittal nonsyndromic craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this study, we performed a GWAS for a second midline NCS, metopic NCS (mNCS), using 215 non-Hispanic white case-parent triads. We identified six variants with genome-wide significance (P ≤ 5 × 10–8): rs781716 (P = 4.71 × 10–9; odds ratio [OR] = 2.44) intronic to SPRY3; rs6127972 (P = 4.41 × 10–8; OR = 2.17) intronic to BMP7; rs62590971 (P = 6.22 × 10–9; OR = 0.34), located ~ 155 kb upstream from TGIF2LX; and rs2522623, rs2573826, and rs2754857, all intronic to PCDH11X (P = 1.76 × 10–8, OR = 0.45; P = 3.31 × 10–8, OR = 0.45; P = 1.09 × 10–8, OR = 0.44, respectively). We performed a replication study of these variants using an independent non-Hispanic white sample of 194 unrelated mNCS cases and 333 unaffected controls; only the association for rs6127972 (P = 0.004, OR = 1.45; meta-analysis P = 1.27 × 10–8, OR = 1.74) was replicated. Our meta-analysis examining single nucleotide polymorphisms common to both our mNCS and sNCS studies showed the strongest association for rs6127972 (P = 1.16 × 10–6). Our imputation analysis identified a linkage disequilibrium block encompassing rs6127972, which contained an enhancer overlapping a CTCF transcription factor binding site (chr20:55,798,821–55,798,917) that was significantly hypomethylated in mesenchymal stem cells derived from fused metopic compared to open sutures from the same probands. This study provides additional insights into genetic factors in midline CS

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

Our previous genome-wide association study (GWAS) for sagittal nonsyndromic craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this study, we performed a GWAS for a second midline NCS, metopic NCS (mNCS), using 215 non-Hispanic white case-parent triads. We identified six variants with genome-wide significance (P\u2009 64\u20095\u2009 7\u200910-8): rs781716 (P\u2009=\u20094.71\u2009 7\u200910-9; odds ratio [OR]\u2009=\u20092.44) intronic to SPRY3; rs6127972 (P\u2009=\u20094.41\u2009 7\u200910-8; OR\u2009=\u20092.17) intronic to BMP7; rs62590971 (P\u2009=\u20096.22\u2009 7\u200910-9; OR\u2009=\u20090.34), located\u2009~\u2009155 kb upstream from TGIF2LX; and rs2522623, rs2573826, and rs2754857, all intronic to PCDH11X (P\u2009=\u20091.76\u2009 7\u200910-8, OR\u2009=\u20090.45; P\u2009=\u20093.31\u2009 7\u200910-8, OR\u2009=\u20090.45; P\u2009=\u20091.09\u2009 7\u200910-8, OR\u2009=\u20090.44, respectively). We performed a replication study of these variants using an independent non-Hispanic white sample of 194 unrelated mNCS cases and 333 unaffected controls; only the association for rs6127972 (P\u2009=\u20090.004, OR\u2009=\u20091.45; meta-analysis P\u2009=\u20091.27\u2009 7\u200910-8, OR\u2009=\u20091.74) was replicated. Our meta-analysis examining single nucleotide polymorphisms common to both our mNCS and sNCS studies showed the strongest association for rs6127972 (P\u2009=\u20091.16\u2009 7\u200910-6). Our imputation analysis identified a linkage disequilibrium block encompassing rs6127972, which contained an enhancer overlapping a CTCF transcription factor binding site (chr20:55,798,821-55,798,917) that was significantly hypomethylated in mesenchymal stem cells derived from fused metopic compared to open sutures from the same probands. This study provides additional insights into genetic factors in midline CS