CS-12 IDH-1 MUTANT GLIOMA IN BROTHER AND SISTER, ONSET AT AGE OF 30s

A 38-year-old man consulted with our neurosurgery group at University of Fukui hospital, due to tonic-clonic seizures. An MRI revealed a non-enhanced intra-axial tumor at the left frontal lobe. CT showed no calcification in the tumor. The tumor was removed by awake brain surgery. The pathological specimen was diagnosed as a diffuse astrocytoma with IDH-mutant. Immunohistochemical staining and DNA sequencing confirmed a R132H mutation at IDH-1. Telomerase Reverse Transcriptase (TERT) promoter mutation and 1p 19q codeletion was not evident. Four years later, his sister, a 40-year-old woman, had an MRI as a routine medical check that found a right frontal tumor at the mirror site of her brother’s tumor, and with identical radiological findings. The tumor was completely removed. The specimen revealed oligodendrocytoma, with mutant IDH and 1p/19q co-deleted. DNA sequencing showed also R132H at IDH-1. TERT promoter mutation was evident at C228T, which is a surrogate marker for oligodendroglioma. IDH-mutant astrocytoma and oligodendroglioma in siblings; and germline mutation of IDH have not been reported. However, the respective incidences of astrocytoma and oligodendroglioma are 0.55/100,000/year and 0.26/100,000/year according to United State statistics, which indicates that merely coincidental occurrence of these tumors is extremely unlikely. A trigger for IDH mutation that runs in rare families could warrant whole-genome sequencing.

Crystal structure of a dimeric β-diketiminate magnesium complex

The solid-state structure of a dimeric β-diketiminate magnesium(II) complex is discussed. The compound, di-μ-iodido-bis[({4-amino-1,5-bis[2,6-bis(propan-2-yl)phenyl]pent-3-en-2-ylidene}azanido-κ2N,N′)magnesium(II)] toluene sesquisolvate, [Mg2(C29H41N2)2I2]·1.5C7H8, crystallizes as two independent molecules, each with 2/mcrystallographic site symmetry, located at Wyckoff sites 2cand 2d. These have symmetry-equivalent magnesium atoms bridged by μ-iodide ligands with very similar Mg—I distances. The two Mg atoms are located slightly below (∼0.5 Å) the least-squares plane defined by N–C—C–N atoms in the ligand scaffold, and are approximately tetrahedrally coordinated. One and one-half toluene solvent molecules are disordered with respect to mirror-site symmetry at Wyckoff sites 4iand 2a, respectively. In the former case, two toluene molecules interact in an off-center parallel stacking arrangement; the shortest C to C′ (π–π) distance of 3.72 (1) Å was measured for this interaction.

Mirror-Image Spinal Dural Arteriovenous Fistulas at the Craniocervical Junction

BACKGROUND AND IMPORTANCE We report an extremely rare case with mirror-site spinal dural arteriovenous fistulas (DAVFs) at the craniocervical junction. Although multiple spinal DAVFs have been reported in the literature, complete mirror-site lesions with fistulas and feeding arteries in the symmetric position have not been previously described. CLINICAL PRESENTATION A 74-year-old man presented with walking disturbance, urinary incontinence, and constipation progressing over a 14-month period. T2-weighted magnetic resonance imaging showed a high-intensity area in the spinal cord at the level from C4 to C6 and multiple flow voids at the surface of the spinal cord. Three-dimensional computed tomographic angiography revealed bilateral DAVFs located in the mirror site of the craniocervical junction. Direct surgery with suboccipital craniectomy and C1 laminectomy revealed dilated tortuous red veins on the dorsal surface of the spinal cord. We found bilateral symmetric red veins around the dural penetration of the vertebral artery. Both red veins were successfully interrupted with the aneurysmal clips. Postoperative 3-dimensional computed tomographic angiography revealed a disappearance of the bilateral fistulas. Magnetic resonance images obtained 6 months after the surgery confirmed the disappearance of the intramedullary high-intensity area and flow voids. The symptoms before the operation improved after surgery, especially urinary incontinence and constipation, with slight walking disturbance. CONCLUSION Because fistulas in the present case existed at the same spinal level, we found multiple fistulas on the first examination. This early notification resulted in a good outcome from the first operation. If patients with spinal DAVFs have rapidly progressing symptoms, one should suspect multiple fistulas.