scholarly journals Familial pineal tumours in two siblings

Author(s):  
FB Maroun ◽  
R Avery ◽  
E Walsh

Background: The occurrence of familial brain tumours, particularly gliomas, hemangioblastomas in Von Hippel Lindau and other endocrine neoplasia, is well documented in the literature. On the other hand, familial pineal tumours are extremely rare and only a handful of cases have been reported. Methods and Results: Two female siblings presented at ages 12 and 15 with histories of progressive headaches. Neurological examination in each was completely normal. Magnetic Resonance Imaging confirmed the presence of cystic and solid lobulated pineal lesions with mild enhancement, consistent with pineocytoma, in both girls. Follow-up for 15 years in the first sibling and 4 years in the second showed no evolution in radiological or clinical manifestations. No active treatments have been carried out. Conclusion: The occurrence of familial pineal lesions raises the possibility of a close relationship between heredity and oncogenicity, and should be further explored.

2020 ◽  
Vol 35 (9) ◽  
pp. 663-671
Author(s):  
Tenghui Zhan ◽  
Fanggang Cai ◽  
Pingfan Guo ◽  
Yujie Lian ◽  
Hui Zhuang ◽  
...  

Objectives To examine three different methods for evaluating the effect of percutaneous sclerotherapy on limb venous malformations in a series of patients with a relatively long follow-up. Method The study was a retrospective study. Results Thirty-eight patients treated with percutaneous sclerotherapy underwent sclerotherapy, with a median number of sessions of 4 (range, 1–10). They were followed up for 1–60 months (average 12.5 months). The kappa between clinical manifestations and Doppler ultrasound was 0.684 ( P < 0.001). The kappa between clinical manifestations and magnetic resonance imaging was 0.217 ( P = 0.006). The kappa between Doppler ultrasound and magnetic resonance imaging was 0.323 ( P < 0.001). The rate of grade IV patients evaluated by clinical manifestations was significantly higher than that by Doppler ultrasound and magnetic resonance imaging. Conclusions Magnetic resonance imaging is the gold standard for VM imaging. Its consistency with clinical examination and Doppler ultrasound is poor, and Doppler ultrasound and clinical examination could be more appropriate for follow-up imaging after sclerotherapy.


Neurosurgery ◽  
2003 ◽  
Vol 53 (6) ◽  
pp. 1306-1314 ◽  
Author(s):  
Vera Van Velthoven ◽  
Peter C. Reinacher ◽  
Joachim Klisch ◽  
Hartmut P.H. Neumann ◽  
Sven Gläsker

Abstract OBJECTIVE Hemangioblastomas of the central nervous system are rare vascular tumors that can occur as sporadic lesions or as component tumors of autosomal dominant von Hippel-Lindau disease. With the availability of magnetic resonance imaging, asymptomatic tumors are detected more frequently, especially among patients with von Hippel-Lindau disease, and the questions of whether and when these lesions should be treated arise. To identify surgical outcomes and the timing of surgery for intramedullary hemangioblastomas, we retrospectively analyzed data for a series of 28 consecutive patients whom we surgically treated for intramedullary hemangioblastomas in the past 10 years. METHODS All tumors were completely removed. Functional grades, according to the McCormick scale, were determined before and after surgery and in follow-up assessments. Several clinical characteristics were correlated with changes in functional grades in follow-up assessments, compared with preoperative grades. RESULTS Functional grades in follow-up assessments improved for 28.6% of the patients and remained unchanged for 71.4%. No patient was in worse condition, compared with preoperative status. Peritumoral edema on preoperative magnetic resonance imaging scans was correlated with significantly higher surgical morbidity rates. Four asymptomatic patients were surgically treated because of tumor or pseudocyst progression on serial magnetic resonance imaging scans. All of those patients remained asymptomatic postoperatively. CONCLUSION Intramedullary hemangioblastomas can be removed with low surgical morbidity rates and excellent long-term prognoses. The timing of surgery for patients with von Hippel-Lindau disease and multiple lesions remains a matter of debate. On the basis of our data, we established the strategy of operating also on asymptomatic lesions that exhibit radiological progression, before significant neurological deficits occur, which are often not reversible.


Neurosurgery ◽  
2011 ◽  
Vol 69 (5) ◽  
pp. 1085-1092 ◽  
Author(s):  
Yutaka Kai ◽  
Toru Nishi ◽  
Masaki Watanabe ◽  
Motohiro Morioka ◽  
Teruyuki Hirano ◽  
...  

Abstract BACKGROUND The natural course of unruptured vertebral artery dissecting aneurysms (VADAs) remains unclear. OBJECTIVE The purpose of this retrospective study was to develop a strategy for treating unruptured VADAs based on long-term follow-up. METHODS Our study population consisted of 100 patients with unruptured VADAs; in 66, the initial symptom was headache only, 30 presented with ischemic symptoms and 4 with mass effect. All underwent magnetic resonance imaging and magnetic resonance angiography at the time of admission and 2 weeks and 1, 3, 6, 12, and 24 months after the onset. If the dissection site was demonstrated to be enlarged on magnetic resonance imaging and magnetic resonance angiography without the manifestation of new symptoms, the patients received additional treatment to prevent bleeding. RESULTS Of the 100 patients, 4 underwent early intervention because of symptom exacerbation. The other 96 were initially treated conservatively; during follow-up, 5 manifested lesion enlargement on magnetic resonance angiography. Nine patients received additional treatment; 1 underwent direct surgery with trapping of the dissection site, and 8 underwent coil embolization. The other 91 patients continued to be treated conservatively; the dissection site remained unchanged in 70, improved or healed in 18, and disappeared in 3 patients. We treated 38 patients with recurrent ischemic attacks with antiplatelet therapy. No patients experienced bleeding or permanent neurological deficits during follow-up. CONCLUSION The nature of an unruptured VADA is not highly aggressive. However, if the dissection site enlarges without the manifestation of new symptoms, it should be occluded. In patients with recurrent ischemic attacks antiplatelet therapy should be considered.


2017 ◽  
Vol 114 (23) ◽  
pp. 6116-6121 ◽  
Author(s):  
Antoine Philippe Fournier ◽  
Aurélien Quenault ◽  
Sara Martinez de Lizarrondo ◽  
Maxime Gauberti ◽  
Gilles Defer ◽  
...  

New strategies for detecting disease activity in multiple sclerosis are being investigated to ameliorate diagnosis and follow-up of patients. Today, although magnetic resonance imaging (MRI) is widely used to diagnose and monitor multiple sclerosis, no imaging tools exist to predict the evolution of disease and the efficacy of therapeutic strategies. Here, we show that molecular MRI targeting the endothelial adhesion molecule P-selectin unmasks the pathological events that take place in the spinal cord of mice subjected to chronic or relapsing experimental autoimmune encephalomyelitis. This approach provides a quantitative spatiotemporal follow-up of disease course in relation to clinical manifestations. Moreover, it predicts relapse in asymptomatic mice and remission in symptomatic animals. Future molecular MRI targeting P-selectin may be used to improve diagnosis, follow-up of treatment, and management of relapse/remission cycles in multiple sclerosis patients by providing information currently inaccessible through conventional MRI techniques.


GYNECOLOGY ◽  
2020 ◽  
Vol 22 (3) ◽  
pp. 6-10
Author(s):  
Sergey A. Martynov

The aim of the review was to summarize information on clinical manifestations, diagnostic features, as well as methods for correction of scar defects after cesarean section (CS) outside pregnancy. Lack of the scar after CS, niche, isthmocele are a myometrium defect in the area of scar after CS, which is most often detected by ultrasound, sonohysterography or magnetic resonance imaging and is manifested by postmenstrual bleeding from the genital tract. In some cases, it can cause menorrhagia, dyspareunia, pelvic pain, infertility, uterine rupture during subsequent pregnancy and childbirth. Conservative therapy or surgical treatment with laparoscopy, laparotomy or vaginal approach is carried out depending on the symptoms, size of the defect, the thickness of the residual myometrium, as well as the womans reproductive plans.


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