Evaluation of the anterior pituitary function in the acute phase after spontaneous subarachnoid hemorrhage.

BACKGROUND: Subarachnoid hemorrhage (SAH) is a potential cause of hypopituitarism. Most of the studies regarding the relationship between SAH and anterior pituitary function were retrospective and hormonal assessment was performed several months after SAH. AIM: To prospectively evaluate the prevalence of anterior pituitary hormone deficiencies in the acute phase after spontaneous SAH and their possible correlation with clinical and radiological parameters. METHODS: Pituitary function was tested in 60 patients within 72 h after spontaneous SAH. RESULTS: 56.9% of the patients showed at least one anterior pituitary hormone deficiency: gonadotropin and GH secretion failure represented the most prevalent hormonal deficiencies (33.3 and 22.0%, respectively), whereas ACTH and TSH deficiency was less frequent (7.1 and 1.8%, respectively). With the exception of secondary hypogonadism, the prevalence of other pituitary hormone deficiencies is in agreement with previous studies, which evaluated pituitary function on longterm follow up after SAH. No correlation was found between hypopituitarism and clinical status, as assessed with Hunt-Hess and Glascow Coma Scales. Moreover, no correlation was found between hypopituitarism and bleeding severity evaluated with Fisher's scale. CONCLUSIONS: We demonstrated a high prevalence of anterior pituitary hormone deficiencies acutely after SAH. Although part of GH and gonadotropin deficiencies might be a consequence of functional alteration due to SAH itself, the finding of low cortisol levels in this stressful condition strongly suggests the presence of true hypocortisolism. Therefore, an evaluation of pituitary function shortly after SAH might be useful to identify a subset of patients who deserve a more accurate follow-up.

Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation.

Ganglioneuroma is a rare benign tumor originating from autonomic ganglia and is considered the benign counterpart of neuroblastoma. Ganglioneuromas may be present as an isolated finding and, rarely, in association with neurofibromatosis type 1 (NF1). However, ganglioneuromas of the cervical spine with intradural extension and multiple locations are extremely rare. We describe a 32-year-old woman with multiple ganglioneuromas of the cervical, dorsal and lumbar spine associated with a few café-au-lait spots and subcutaneous nodules. The patient lacked other NF1 stigmata, such as freckling, Lisch nodules and cutaneous neurofibromas. Although our patient did not fulfill the NF1 diagnostic criteria, molecular diagnosis revealed a pathogenic mutation in the NF1 gene. Approximately 30 patients affected by NF1 and ganglioneuromas have been reported: in all these individuals, NF1 diagnosis was made according to the clinical diagnostic criteria and no patients have molecular diagnosis. Therefore, this is the first case with multiple spinal ganglioneuromas associated with a pathogenic NF1 mutation.

A single-institution restrospective experience of brachytherapy in the treatment of pituitary tumors: transsphenoidal approach combined with (192)Ir-afterloading catheters.

BACKGROUND AND AIM: Radiotherapy may be used as an adjuvant treatment of pituitary adenomas. The aim of our study was to present our experience of multimodal treatment of pituitary adenomas, consisting in temporary implantation of (192)Ir-labeled wires following transphenoidal surgery. SUBJECTS AND METHODS: An observational investigation was performed on a series of 80 patients undergoing surgery (S) for pituitary adenomas between 1982 and 2000, some of whom received post-operative external beam radiotherapy (EBRT) (no.=19 between 1982 and 1990), brachytherapy (B) (no.=35, all after 1991), or both irradiation modalities (EBRT+B) (no.=14). The different treatments were compared in terms of hormonal normalization in the subgroup of patients with hypersecreting adenomas, tumor control, and side effects. RESULTS: Hormonal normalization was obtained in 84% of S+B patients and in 61% of S+EBRT patients. Tumor control was obtained in 74.3% of S+B patients and in 63.1% of S+EBRT patients. Anterior pituitary hormones deficits ranged from 8.6-34% in S+B patients and from 15.8-47.4% in S+EBRT patients, after a mean follow-up of 14 yr. The latter group also showed a higher rate of multiple deficits (42.1% vs 22.8%). Diabetes insipidus and other major complications were rare events in all groups. CONCLUSIONS: We presented one original experience regarding brachytherapy in the management of pituitary tumors, which turned out to be effective and safe. Additional prospective, and possibly randomized, studies should clarify whether in the era of 3-dimensional conformal radiotherapy and stereotactic radiotherapy this treatment modality may still have a role.

Atypical onset of antiphospholipid syndrome in pregnancy: a case report.

BACKGROUND: We present a case of an atypical onset of antiphospholipid syndrome (APS). CASE: A woman in her 15th week gestation had a thrombosis of an unknown cerebral cavernoma, which was successfully removed. Twenty-six days after, she was admitted for a severe pain in right hypochondrium and a second class HELLP syndrome was diagnosed. Two days after, she had a fetal loss. After 1 month, laboratory tests revealed high level of antiphospholipid antibodies. At the same time, she developed a spontaneous thrombosis at her right arm. After 6 weeks, antiphospholipid antibodies, tested again, result positive. CONCLUSION: Antiphospholipid antibodies often cause pregnancy complications, but, to our knowledge, this is the first report of an association of antiphospholipid antibodies, with cerebral cavernoma thrombosis and early onset HELLP syndrome.

Oligodendrogliomas lacking O6-methylguanine-DNA-methyltransferase expression.

O6-Methylguanine-DNA-Methyltransferase (MGMT) is a DNA repair protein considered to be a chemosensitivity predictor. We evaluated the immunohistochemical MGMT expression in 28 consecutive oligodendroglial tumors (21 oligodendrogliomas, 5 mixed oligoastrocytomas, and 2 glioblastomas with prominent oligodendroglial features; 13 treated with CCNU) and compared it with that of 13 glioblastomas. Twenty-six (93%) oligodendroglial tumors were MGMT-negative, 2 (7%) were MGMT-positive. Twelve (92%) patients treated with CCNU had MGMT-negative lesions and their median survival was 73 months; 1 patient had an MGMT-positive oligodendroglioma and is alive at 28 months. Three (23%) glioblastomas were MGMT-negative and 10 (77%) MGMT-positive. The lower MGMT expression in oligodendroglial tumors compared to glioblastomas (P < 0.05), which have different chemosensitivity, suggests a possible role of MGMT in the determination of chemoresistance. Nevertheless, the heterogeneous outcome of our MGMT-negative oligodendroglial tumors treated with CCNU, indicates that MGMT expression alone is insufficient to predict the response to alkylating drugs, presumably because of the numerous mechanisms involved.

Surgical treatment of intracranial aneurysms in patients aged over 70: 25 years of experience.

Many references and communications regarding neurosurgical topics in elderly patients underline the interest of our Unit for this subject. We already presented in 1978 a series of 75 patients over 60 years of age operated on for intracranial aneurysms; we reported a 90% of success in all the cases operated with clinical grade 1 or 2 according to Botterel grading system on admission. In 1986, during the XXXV Congress of the Italian Neurosurgical Society, we presented other 15 cases operated for intracranial aneurysm over 70 years of age. We present an upgrading of our casistic.

Pregnancy and subarachnoid hemorrhage: a case report.

Cerebrovascular diseases are rare in pregnancy and mostly caused by rupture of an arterial aneurysm. We present the case of a pregnant woman at 36 weeks of gestation who had a subarachnoid hemorrhage resulting from rupture of an unknown aneurysm, and who underwent a Cesarean section and an endovascular treatment to embolize the aneurysm.

Cerebrospinal fluid rhinorrhea and unilateral nasal polyposis: a case report.

We report a case of cerebrospinal fluid (CSF) rhinorrhea and unilateral polyposis in a 53-year-old woman. The clinical features, tomograms, and CT scan with Metrizamide infusion are examined. The analysis of this case evidences that: 1) A CSF can occur also after a long time (3 years) following a head injury; 2) CT cisternography with Metrizamide can demonstrate a leakage, but not always the fluid egress from the intracranial cavity; and 3) A CSF rhinorrhea may be the primary cause and not an occasional association or complication of a reactive phlogistic nasal disease.

Effects of hyper-early (<12 hours) endovascular treatment of ruptured intracranial aneurysms on clinical outcome.

Despite the encouraging results obtained with the endovascular treatment of ruptured intracranial aneurysms, few data are available on the effects of the timing of this approach on clinical outcome. The aim of our study was to evaluate the effects of the hyper-early timing of treatment and of pre-treatment and treatment-related variables on the clinical outcome of patients with ruptured intracranial aneurysms. Five hundred and ten patients (167 M, 343 F; mean age 56.45 years) with 557 ruptured intracranial aneurysms were treated at our institution from 2000 to 2011 immediately after their admission. The total population was divided into three groups: patients treated within 12 hours (hyper-early, group A), between 12-48 hours (early, group B) and after 48 hours (delayed, group C). A statistical analysis was carried out for global population and subgroups. Two hundred and thirty-four patients (46%) were included in group A, 172 (34%) in group B and 104 (20%) in group C. Pre-treatment variables (Hunt&Hess, Fisher grades, older age) and procedure-related variable (ischaemic/haemorrhagic complications) showed a significant correlation with worse clinical outcomes. The hyper-early treatment showed no correlation with good clinical outcomes. The incidence of intra-procedural complications was not significantly different between the three groups; 1.2% of pre-treatment rebleedings were observed. The hyper-early endovascular treatment of ruptured intracranial aneurysm does not seem to be statistically correlated with good clinical outcomes although it may reduce the incidence of pre-treatment spontaneous rebleedings without being associated with a higher risk of intra-procedural complications. However, since no significant differences in terms of clinical outcome and pre-treatment rebleeding rate were observed, a hyper-early treatment is not be supported by our data.

Five to ten years follow-up after coiling of 241 patients with acutely ruptured aneurysms. A single centre experience.

Endovascular treatment has assumed a role of first choice in the management of ruptured intracranial aneurysms. We describe the clinical and morphological data after the treatment of 258 ruptured intracranial aneurysms in 241 patients, in order to evaluate the safety and the efficacy of the endovascular treatment. Two hundred and forty-one patients with saccular ruptured aneurysms were treated at our institution between 2000 and 2005. After the endovascular treatment a clinical and angiographic follow-up was conducted. The clinical follow-up was carried out with a medical examination and telephonic interviews and mRS was used for evaluation. Two hundred and forty-nine acutely ruptured aneurysms were successfully treated and immediately after the endovascular procedure 81.9% of the aneurysms resulted completely occluded, 12.1% had a residual neck and 6% revealed a residual sac. The evolution of each grade was evaluated at six months and two years. During the follow-up we observed five early and one late re-bleedings. Twenty-four patients underwent a second procedure. After the discharge and up to ten years 73.1% of patients had a good clinical outcome (mRS0-1), 8.9% died and the remainder showed moderate-severe disability (mRS2-3). The long-term stability of the anatomical result is a critic-al issue of this approach because eventual re-bleedings may occur even after several months or years. A careful clinical and radiological follow-up for up to two years after the embolization may prevent recurrences but may not be sufficient.

Multi-step approach in a complex case of Cushing's syndrome and medullary thyroid carcinoma.

The diagnosis of Cushing's syndrome (CS) may sometimes be cumbersome. In particular, in ACTH-dependent CS it may be difficult to distinguish between the presence of an ACTH-secreting pituitary adenoma and ectopic ACTH and/or CRH secretion. In such instances, the etiology of CS may remain unknown despite extensive diagnostic workout, and the best therapeutic option for each patient has to be determined. We report here the case of a 54-yr-old man affected by ACTH-dependent CS in association with a left adrenal adenoma and medullary thyroid carcinoma (MTC). He presented with clinical features and laboratory indexes of hypercortisolism associated with elevated levels of calcitonin. Ectopic CS due to MTC was reported previously. In our case hypercortisolism persisted after surgical treatment of MTC. Thorough diagnostic assessment was performed, in order to define the aetiology of CS. He was subjected to basal and dynamic hormonal evaluation, including bilateral inferior petrosal sinus sampling. Extensive imaging evaluation was also performed. Overall, the laboratory data together with the results of radiological procedures suggested that CS might be due to inappropriate CRH secretion. However, the source of CRH secretion in this patient remained unknown. It was then decided to remove the left adenomatous adrenal gland. Cortisol level fell and has remained within the normal range nine months after surgery. This case well depicts the complexity of the diagnostic workout, which is needed sometimes to correctly diagnose and treat CS, and suggests that monolateral adrenalectomy may represent, at least temporarily, a reasonable therapeutic option in occult ACTH-dependent hypercortisolism.

Endovascular Coiling of Aneurysm Remnants after Clipping in Patients with Follow-up. A Single Center Experience.

SUMMARY: The vast majority of intracranial aneurysms can be obliterated completely with surgical clipping. However, postoperative remnants occur in about 4 to 8% of patients who undergo postoperative angiography. Endovascular embolization has been successfully performed in patients with postoperative aneurysm remnant and it may represent a therapeutic alternative to surgical reintervention. Twelve aneurysm remnants after surgical clipping were treated with endovascular embolization using GDC. All aneurysms were located in the anterior circulation. Our experience confirms the feasibility and relative safety of this treatment strategy that may be considered a valid alternative to reintervention.

Parkinsonism caused by chronic subdural hematoma. A case report.

A 48 year-old man with chronic subdural hematoma presented with a parkinsonian syndrome. Removal of the hematoma was followed by gradual disappearance of the extrapyramidal symptoms, as in other, rare, published cases.

Computed tomographic determination of coordinates for stereotaxis.

A visual, a computer-assisted and a trigonometric method for obtaining coordinates for stereotaxis are compared. Each method had its own deficiencies and produced comparable results.

Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene.

Neurofibromatosis type 2 (NF2) is an autosomal dominant cancer syndrome that predisposes to the development of bilateral vestibular schwannomas sometimes associated with schwannomas at other locations, meningiomas, ependymomas and juvenile posterior subcapsular lenticular opacities. This disease is caused by inactivating mutations in the NF2 tumour-suppressor gene, located in 22q12. Recently, somatic mosaicism has been demonstrated in some "de novo" NF2 patients. We here report the genetic study of 33 NF2 patients from 33 unrelated Italian families. Twelve mutations were characterised, including seven newly identified mutations and five recurrent ones. Furthermore, we describe one patient with an inactivating mutation that lies in exon 13 but that is present in only a portion of the lymphocytes and, more importantly, a clinically normal individual carrying a somatic/germinal mosaicism for a nonsense mutation in exon 10 of the NF2 gene. Our results confirm the relatively high percentage of mosaicism for mutations in the NF2 gene and establish the importance of evaluating genomic DNA from several tissues, in addition to lymphocytes, so as to identify mosaicism in "de novo" NF2 patients and their relatives. In addition, the demonstration of somatic and/or gonadal mosaicism is an important tool for accurate genetic counselling in families with sporadic cases of NF2.

Disappearance of a cerebral arteriovenous malformation after partial endovascular embolisation.

SUMMARY: The authors report the observation of a patient with a Spetzler-Martin grade 3, symptomatic, sulcal cerebral arteriovenous malformation (cAVM) of the left precuneus that after partial, uncomplicated, endovascular embolisation disappeared at 4, 6 and 12 months follow-up. Discussion focuses on the angioarchitectural remodelling of the cAVM over time according to the latest concepts on AVM development and evolution.