Pituitary adenoma is a common primary brain neoplasm. Pituitary apoplexy (PA) is a rare complication of pituitary adenoma and occurs as the result of sudden tumor growth and following different comorbidities. The authors describe the first case of PA following posterior lumbar fusion surgery performed while the patient was prone. In patients with a preexisting pituitary adenoma, thorough clinical and laboratory investigations should be conducted using an interdisciplinary approach before any planned surgery. In unknown cases of pituitary adenoma, PA should be kept in mind for the differential diagnosis in a case with headache, nausea, vomiting, ophthalmoplegia, visual loss, and electrolyte imbalance concurrent with an ongoing disease state.
Akın Akakın, Baran Yılmaz, Murat Şakir Ekşi and Türker Kılıç
Akın Akakın, Baran Yılmaz, Türker Kılıç and Albert L. Rhoton Jr.
The goal in this study was to examine the cadaveric anatomy of the subthalamic nucleus (STN) and to analyze the implications of the findings for deep brain stimulation (DBS) surgery.
Five formalin-fixed human cerebrums were dissected using the Klingler fiber dissection technique. Digital photographs of the dissections were fused to obtain an anaglyphic image.
The STN was located posteroinferior to the anterior corticospinal fibers, posterosuperior to the substantia nigra, and anteromedial to the red nucleus, lenticular fasciculus, and thalamic fasciculus. The subthalamic region is ventral to the thalamus, medial to the internal capsule, and lateral and caudal to the hypothalamus. The nuclei found within the subthalamic region include the STN. The relationship between the STN and surrounding structures, which are not delineated sharply, is described.
The fiber dissection technique supports the presence of the subthalamic region as an integrative network in humans and offers the potential to aid in understanding the impacts of DBS surgery of the STN in patients with Parkinson disease. Further research is needed to define the exact role of the STN in the integrative process.
Baran Yılmaz, Zafer Orkun Toktaş, Akın Akakın, Semra Işık, Kaya Bilguvar, Türker Kılıç and Murat Günel
Brain arteriovenous malformations (AVMs) can occur in patients with hereditary hemorrhagic telangiectasia (HHT). However, brain AVM without HHT has also been reported. Using whole exome sequencing, the authors performed comprehensive genomic characterization of a 6-person Turkish family with 3 cases of brain AVM without HHT.
Three siblings with brain AVM, one of whom also had spinal AVM, were evaluated. The parents and the fourth sibling had no AVM on cranial MRI. The authors performed a whole exome capture and Illumina sequencing on blood samples from 2 siblings with AVM.
An ACVRL1 heterozygous mutation (p.Lys332Glu) was identified in 2 patients via whole exome sequencing. Variant segregation was confirmed using direct Sanger sequencing.
Study results suggested that whole exome sequencing analysis is particularly useful in cases of locus heterogeneity and uncertain diagnostic classification schemes in patients with hereditary brain AVM.