A case-control study on risk factors for cerebral tumors was conducted on an adult Italian population by the four Neurosurgical Departments of the Veneto Region, i.e. Padua, Treviso, Verona and Vicenza. The study recruited 195 cases of histologically-confirmed cerebral glioma. One hospital control was selected for each case. Cases and controls were matched for age, sex, data of hospitalization and residence. Information on both cases and controls was obtained from a relative. Uninvolved interviewers administered a structured questionnaire including items on the subject's education, occupation, lifestyle, medical history, exposure to radiation for diagnosis or therapy, head trauma and blood group and the medical history of family members. The series of cerebral tumors was first considered as an indistinct set: none of the risk factors examined showed a statistically significant association. A positive association was found with blood group A (OR = 6) when low-grade astrocytomas (n = 41) were considered separately. As for the malignant astrocytomas (n = 132), there was a suggestive but not statistically significant association with the presence of CNS tumors among first- and second-degree relatives (OR = 7.0). On the whole, this study yielded no clear and meaningful association for the various risk factors analyzed.

The α-synuclein gene (SNCA) multiplication causes autosomal dominant Parkinson's disease (PD). Particularly triplication, but also duplication, of the SNCA is associated with early-onset rapidly progressing parkinsonism with increased risk of cognitive impairment. There is no report about the effect and safety of Deep Brain Stimulation (DBS) in carriers of this mutation and, in general, data in patients with genetic parkinsonism are scarce. We report a one-year prospective follow-up of subthalamic nucleus (STN) DBS in a 46-year old female carrier of SNCA duplication who developed PD at the age of 41 years, and rapidly showed disabling motor fluctuations and dyskinesias refractory to pharmacological strategies. One year after surgery there was a clinically relevant improvement in motor features with a reduction of 64% in UPDRS III in "off medication" and a complete abolition of peak dose dyskinesias. Patient did not report procedure-related adverse events following STN-DBS except for stimulation-induced right foot dystonia relieved by modulating stimulation parameters. Postoperative cognitive testing showed a decline in executive functions, mostly verbal fluency and attention shifting, compared with presurgical assessment. STN-DBS is safe and effective in patients with SNCA duplication showing a clinical pattern similar to idiopathic PD. Our case suggests that clinical phenotype rather genotype is the main predictor for DBS outcome.

We believe the syrinx in this patient was caused by a blockade of flow in the central canal and around the spinal cord as a result of the tethered cord. The untethering procedure resulted in the collapse of the syrinx followed by resolution of neurological deficits.

No abstract

SUMMARY:Hypophyseal triplication is malformation that has not been described previously. We present a child with midline abnormalities who underwent epignathus excision at birth. Brain MR imaging revealed 2 paired lateral pituitary glands and an oval midline gland, each with an independent stalk, connected to a thickened third ventricle floor. Because malformations represent a failure in embryogenesis, this case may provide interesting clues on the normal development of the hypophysis. Duplication of the pituitary gland is an extremely rare malformation; most patients do not survive beyond infancy because of the severity of associated abnormalities.1 Several cases present epipharyngeal teratoma, midline palatal cleft, or spinal malformations, thus revealing the failure of development of multiple midline structures. [2][3][4] Besides the classic form with 2 complete pituitary glands located in the lateral recesses of the pituitary fossa, the spectrum of hypophyseal malformation includes incomplete duplication affecting the anterior pituitary gland or the pituitary stalk. 5 The floor of the third ventricle usually appears thickened, and this feature has been differently interpreted as a hamartoma or as the result of either the duplication of the hypothalamic nuclei, or the fusion of the mammillary bodies and tuber cinereum into a single midline mass. 1 We report the MR imaging findings of an hypophyseal triplication in a 7-year-old girl with concomitant craniofacial and spinal abnormalities. Because the embryogenesis of the pituitary gland is still controversial, 1,3,4 morphologic and signal intensity characteristics of the 3 pituitary glands have been considered to gain insight into the normal development of the hypophyseal-hypothalamic axis. Case ReportA 7-year-old first child of nonconsanguineous parents, with a normal female karyotype and a known occult spinal dysraphism, was referred to our center for worsening of scoliosis and the onset of micturition.According to her clinical history, she was born at 36 weeks' gestation by cesarean delivery because of a massive oropharyngeal epignathus detected by sonography examination at the fifth month of gestation. At birth, to safely manage airway obstruction, an ex utero intrapartum treatment (EXIT) procedure was performed, which consisted of maintaining placental support until the airway was secured. Fifteen days later, the protruding epignathus teratoma was removed, while a concomitant midline palate and lip cleft was repaired by serial maxillofacial surgery.In our center, the patient underwent an MR imaging examination of the lumbosacral spine and the brain. The spinal MR imaging confirmed sacral spina bifida with butterfly vertebra at S1 and hemispondyls in the inferior part of the sacrum. Moreover, an intradural lipoma tethering the spinal cord to its anterior-superior surface was detected.Brain MR imaging confirmed the midline palatal cleft and disclosed concomitant multiple pituitary glands (Fig 1C). Two clearly showed adenohypophyseal and neurohypophyseal comp...