CPAP by helmet for treatment of acute respiratory failure after pediatric liver transplantation.

ARF after pediatric liver transplantation accounts for high rate of morbidity and mortality associated with this procedure. The role of CPAP in postoperative period is still unknown. The aim of the study was to describe current practice and risk factors associated with the application of helmet CPAP. In this retrospective observational cohort study, 119 recipients were divided into two groups based on indication to CPAP after extubation. Perioperative variables were studied, and determinants of CPAP application were analyzed in a multivariate logistic model. Sixty patients (60/114) developed ARF and were included in the CPAP group. No differences were found between the two groups for primary disease, graft type, and blood product transfused. At multivariate analysis, weight <11 kg (OR = 2.9; 95% CI = 1.1-7.3; P = .026), PaO2 /FiO2 <380 before extubation (OR = 5.4; 95% CI = 2.1-13.6; P < .001), need of vasopressors (OR = 2.6; 95% CI = 1.1-6.4; P = .038), and positive fluid balance >148 mL/kg (OR = 4.0; 95% CI = 1.6-10.1; P = .004) were the main determinants of CPAP application. In the CPAP group, five patients (8.4%) needed reintubation. Pediatric liver recipients with lower weight, higher need of inotropes/vasopressors, higher positive fluid balance after surgery, and lower PaO2 /FiO2 before extubation were at higher odds of developing ARF needing CPAP application.

Anatomical variant of origin of ophthalmic artery: case report.

We report on one case of variant origin of right ophthalmic artery (OA) from C4 choroidal segment of the right supraclinoid internal carotid artery. A 41-year-old woman affected by bitemporal hemianopsia performed Magnetic Resonance Imaging with gadolinium showing tuberculum sellae meningioma. During angiography we observed this variant of origin of OA. At surgical dissection, we observed this variant in carotid cistern.

Endocrine dysfunction in patients with Fabry disease.

BACKGROUND: Fabry disease (FD) is a genetic disorder caused by lysosomal alpha-galactosidase-A deficiency and is characterized by the systemic accumulation of globotriaosylceramide. All endocrine glands are susceptible to globotriaosylceramide accumulation because of their high vascularization and low cellular proliferation rate. Nevertheless, this endocrine system has never been investigated in detail. OBJECTIVE: We aimed to investigate the function and morphology of the endocrine glands in FD. PATIENTS: The thyroid, gonadal, adrenal, and GH/IGF-I axes were evaluated in 18 FD patients (nine females and nine males, aged 21-64 yr) and 18 sex- and age-matched healthy subjects. STUDY DESIGN: We conducted an observational, analytical, open, prospective study. INTERVENTIONS: Ten of the 18 patients received enzyme replacement therapy (ERT) with recombinant human alpha-galactosidase-A (agalsidase beta) at a dose of 1 mg/kg body weight every 2 wk. RESULTS: FD patients had higher baseline TSH levels than controls (P < 0.01). Three subjects were diagnosed with an early stage of subclinical primary hypothyroidism associated with negative antithyroid antibodies. A history of menses abnormalities, miscarriage, or assisted delivery was found in 89% of FD women. Asthenozoospermia, oligozoospermia, or both were found in all FD men through seminal fluid analysis. FD patients had significantly higher circulating ACTH and lower cortisol levels than controls (P < 0.05). In patients under ERT, a suboptimal cortisol response to the 250-microg ACTH test was found in 10%, and the ACTH-stimulated cortisol peak was significantly correlated to the health status profile (P < 0.05). CONCLUSION: A variety of latent endocrine dysfunctions, including life-threatening conditions, occur in patients with FD. Endocrine dysfunctions are also present in patients already receiving ERT and are in part related to their persistent poor quality of life. An endocrine work-up should be recommended in all FD patients. Adequate monitoring and hormonal therapy, when required, have to be performed in cases of subclinical endocrine dysfunction to avoid life-threatening events.

Aggressive eosinophilic granuloma of the parietal bone. An immunohystochemical study of Ki-67 expression.

Solitary eosinophilic granuloma (EG) of the skull is a rare lesion, the natural history of which is still to be defined. We report a case of a 26-year-old female who presented with progressive headache and nausea accompanied by a painful firm mass in her left parietal region, which grew very rapidly during the last two weeks before admission. Computed tomography scan showed an osteolytic lesion, which on magnetic resonance imaging appeared hyperintense on both T1- and T2-weighted images, with marked and heterogeneous enhancement after gadolinium administration. Total surgical excision of the lesion was performed and histopathological diagnosis was compatible with eosinophilic granuloma. Immuno-histochemical study of Ki-67 antigen expression was also performed with a labelling index of 10%. In a review of the pertinent literature, we found one case report showing a Ki-67 labelling index of 6.2% in a patient harboring EG of the occipital bone. These two relatively high percentages of proliferative activity suggest a role of local Langerhans'cell proliferation, along with that of inflammatory response, in the aggressive clinical course and rapid expansion observed in some rare cases of solitary eosinophilic granuloma.

Lymphoplasmacyte rich meningioma. A case report and review of the literature.

A peculiar type of meningioma with conspicious plasma-cell components is described. In accordance with the World Health Organization's Histological Typing of Tumours of the Central Nervous System, this rare clinical entity is recently designed as lymphoplasmacyte rich (LPR) meningioma. This type of meningioma is usually accompanied by prominent peripheral blood abnormalities, anemia and/or policlonal gammophaty, that disappear after surgical removal of the tumor. Actually, the origin (neoplastic or inflammatory) of this tumor is unclear; its biological behavior and clinical course are anomalous so it is considered closer to intracranial inflammatory masses rather than typical meningioma. In this paper, a new case of intracranial LPR meningioma occurring in a woman, is reported and a review the literature is made.

Spontaneous regression of syringomyelia in a young patient with Chiari type I malformation.

Syringomyelia is a disorder in which a cyst or cavity forms within the spinal cord. This cyst, called syrinx, can expand and elongate over time, destroying the spinal cord. We describe the case of a young patient with partial spontaneous regression of syringomyelia in Chiari I malformation, confirmed by magnetic resonance imaging three years after the diagnosis. During this period the patient did not experience any clinical symptoms. Although described in literature, spontaneous regression is an unusual event and very few cases have been reported. This case report supports the belief that conservative management together with both clinical and imaging periodic controls should be preferred in stable mild-symptomatic patients.

Endovascular treatment of a giant dissecting aneurysm of the posterior cerebral artery. A case report and literature review.

We describe the case of a 60-year-old man who presented with a giant dissecting aneurysm of the left P2 segment. Intracranial dissecting aneurysms often occur in the vertebrobasilar system, but rarely involve the posterior cerebral artery (PCA). PCA aneurysms tend to have some peculiar features and therefore may be considered a separate entity, even from the vertebrobasilar aneurysms. The patient was treated by endovascular occlusion of both parent vessel and the aneurysm, and he tolerated the procedure well with a complete resolution of clinical deficit, following volume reduction of the aneurysm. This paper presents additional evidence to literature reports suggesting that endovascular parent artery occlusion with coils is an effective and well-tolerated treatment for distal PCA aneurysms. Our review contributes to collect data regarding the incidence of recurrence as a measure of long-term efficacy of this therapeutic approach.

Spontaneous regression of dilated virchow-robin spaces. A case report.

We describe a 28-year-old woman with a dilated perivascular spaces in the right pre-rolandic district. The purpose of this article is to provide an in-depth overview of the MR imaging features of VR spaces and to describe magnetic resonance imaging evidence of complete regression of dilated perivascular spaces (2).

Widespread microstructural white matter involvement in amyotrophic lateral sclerosis: a whole-brain DTI study.

BACKGROUND AND PURPOSE: The extensive application of advanced MR imaging techniques to the study of ALS has undoubtedly improved our knowledge of disease pathophysiology, even if the actual spread of the neurodegenerative process throughout the central nervous system is not fully understood. The present study aimed to detect WM patterns of microstructural abnormalities to better investigate the pathologic process in ALS, within but also beyond CSTs, in a whole-brain analysis. MATERIALS AND METHODS: DTI was performed in 19 patients with ALS and 20 matched healthy controls, by using whole-brain TBSS and VOI analyses. RESULTS: We observed a significant decrease of FA in the body of CC of the ALS group (P < .05). At the VOI level, both FA decrease and RD increase in the body of CC significantly correlated with the UMN score (P = .003 and P = .02). Additionally, significant voxelwise positive correlations between FA and the ALSFRS-R were detected in the WM tracts underneath the left premotor cortex (P < .05). CONCLUSIONS: The correlations between reduction of FA and increase of RD in the body of CC with the UMN score indicate that the WM degeneration in the CC is strictly related to the ALS pyramidal impairment, while the correlation between FA and ALSFRS-R in the associative tracts underneath the left premotor cortex might reflect the progressive spread of the disease from the motor toward the extramotor areas.

DWI Reversibility after Intra-Arterial Thrombolysis. A Case Report and Literature Review.

We report our case and review the literature on reversal DWI lesions, ADC thresholds and correlation between DWI lesion and outcome measured with clinical scales. A 30-years old woman was admitted to our hospital 18 hours after stroke onset. Considering the absence of alterations on CT and the worsening of symptomatology, the patient underwent MRI, which showed a slightly hyperintense signal in FLAIR images in the left portion of the pons and midbrain and a more evident bilateral DWI hyperintensity of the pons. The patient was treated with mechanical and pharmacological intra-arterial thrombolysis. The patient showed a rapid improvement of symptoms. Two weeks after the treatment her clinical conditions were characterized by a residual right hemiparesis and complete recovery of right motility, respiratory and swallowing difficulties. MR examination demonstrated a slight signal alteration of the pons left hemiportion and a disappearance of the mesencephalic signal alteration and of the right portion of the pons. DWI lesions represent irreversibly damaged tissue but new evidence suggests that DWI lesions may be reversible, especially with reperfusion, by now well demonstrated in animal models. Therefore acute DWI lesions probably contain not only irreversibly injured tissue but also parts of the penumbra. The debate on the capability of ADC maps to discriminate irreversibly from reversibly damaged tissue is a matter of controversy. ADC values in human stoke are not an independent indicator of tissue viability. The use of thresholds may improve reproducibility but not validity.

Voxel-based morphometry in patients with cryptogenic occipital epilepsies. Preliminary data.

We evaluated the differences in grey matter concentration (GMC) by voxel-based morphometry (VBM) in patients with cryptogenic occipital epilepsies. VBM analysis was performed in 11 patients with cryptogenic occipital epilepsies compared to 11 healthy controls. VBM analysis in patients revealed focal areas of reduced GMC in the occipital cortex and, more interestingly, increased GMC in the midbrain tegmentum and basal ganglia (globus pallidus and thalamus). VBM may disclose slight structural abnormalities in the brain of cryptogenic epilepsy patients, not evident with standard MRI. To the best of our knowledge, this is the first literature report describing areas of altered GMC in patients with occipital epilepsy. We hypothesize that these findings might be related to epileptic discharges and/or their diffusion and suggest that midbrain, globus pallidus and thalamus may be part of a functional network originating from the occipital areas.

Covered Stent Implantation for the Treatment of Direct Carotid-Cavernous Fistula and Its Mid-Term Follow-up.

SUMMARY: Carotid-cavernous fistulas are abnormal arteriovenous communications either directly between the internal carotid artery and the cavernous sinus or between the dural branches of the internal and external carotid arteries. These fistulas predominantly present with ocular manifestations and they are treated mainly by endovascular techniques in most cases. A detailed review of the literature allowed us to make a complete analysis of the information available on the topic. We describe a case of a direct carotid-cavernous fistula occluded by endovascular implantation of a covered stent, showing the persistence of results after three years.

Trigeminal perineural spread of head and neck tumors.

Perineural tumor spread (PNS) of head and neck malignancies is a well-known form of metastatic disease in which a lesion can migrate away from the primary site along the endoneurium or perineurium. MR imaging is considered the primary method for evaluating patients with symptoms related to the trigeminal nerve in most clinical settings. Both CT and MR imaging can detect perineural spread, but MRI is the modality of choice because of its capability to detect direct signs (nerve enlargement and enhancement) and indirect signs (neuropathic muscular atrophy, obliteration of fat planes). In addition, MRI is more sensitive because of its superior soft-tissue contrast, its multiplanar capability and decreased artifacts from dental hardware. Fat suppression images after contrast injection are mandatory to better detect nerve enhancement. CT is useful in detecting foraminal enlargement or more destructive bone patterns. Nerve function can be perserved until later in the course of the disease: patients with perineural spread demonstrated at radiologic or pathologic examination may have normal or nonspecific nerve function at clinical examination (patients are misdiagnosed with Bell's palsy or trigeminal neuralgia). Hence MRI assessment of perineural tumor location and extension is important.

Stent implantation for treatment of symptomatic spontaneous cervical internal carotid artery dissecting aneurysm. A case report.

Cervical internal carotid dissections are rare. Approximately one third of the cases are associated with pseudoaneurysm. The first-choice management of cervical carotid dissecting aneurysms consists in anticoagulation or antiplatelet therapy. Surgery is typically indicated in cases of failure of conservative therapy with recurrent cerebral ischemic attacks. In recent years, stent implantation has been also employed for the management of patients with carotid dissecting aneurysms whose neurological conditions were refractory to medical treatment. In the present case we describe the treatment of a patient with a carotid dissecting aneurysm, by means of endovascular stent application and provide angiographic control 24 months after the intervention.

Endoscopic ureteroneocystostomy for orthotopic ureteroceles.

Orthotopic ureteroceles may present with various symptoms, such as bladder irritability, flank pain, stone formation or recurrent urinary infections. When symptomatic, excretory urography often demonstrates varying degrees of hydronephrosis. We herein review a series of 12 patients in whom endoscopic ureteroneocystostomy (distal incision of the ureterocele) was performed. The procedure, and its theoretical advantages and indications are discussed. The results indicate excellent therapeutic benefit from this minimally invasive technique.

Bilateral hypoplasia of the internal carotid arteries with basilar aneurysm.

We report a rare case of bilateral hypoplasia of the internal carotid arteries with an associated aneurysm of the basilar tip, studied by CT angiography, MR angiography and digital angiography. The patient became symptomatic with an episode of loss of consciousness, likely due to reduced blood perfusion. The other 20 reported cases of bilateral carotid hypoplasia (only four of which with an associated aneurysm) are reviewed. The findings of noninvasive procedures (including narrowing of the carotid canals on CT) may lead to a correct diagnosis before angiography is performed; they may also help to differentiate angiographic narrowing of the hypoplastic internal carotids from the string sign often observed in some acquired conditions.

Giant intradiploic epidermoid cyst of the occipital bone.

A rare case of giant intradiploic epidermoid cyst of the occipital bone with large intracranial extension in the posterior fossa is described. The lesion was discovered when the patient presented with headache and subcutaneous swelling in the occipital region, in the absence of signs of neurological involvement. CT scan showed extensive destruction of the occipital bone, mainly of the inner table, up to the foramen magnum. On MRI the lesion was hypointense in T(1) and hyperintense in T(2)-weighted images; signal inhomogeneity was due to cellular debris and cholesterol crystals. The enhancing rim due to the thickened dura confirmed the extradural location. Complete removal of the cyst was easily accomplished despite its large size. We found only 3 documented cases in the literature of giant intradiploic infratentorial epidermoid cysts, none of which was studied by MRI. The radiological features and differential diagnosis are discussed.

Absence of the bladder.

Agenesis of the bladder is a rare anomaly involving the development of the urogenital sinus. We report on 3 patients who survived the initial perinatal period and 2 are alive for more than 4 years. Renal and genital anomalies accompany this abnormality, and recurrent urinary tract infections and incontinence are prominent. Treatment of choice is urinary diversion in the hope of stabilizing renal function and an antirefluxing procedure is deemed preferable.

An unusual case of vertebral arteriovenous fistula treated with electrodetachable coil embolization.

Vertebral arteriovenous fistulas (VAF) are rare clinical entities. Most are post-traumatic in origin, following direct injury, or iatrogenic. Treatment options include endovascular occlusion or direct surgical closure. We present a rare case of a spontaneous VAF, presenting with cervical and upper limb pain in a patient with previous chiropractic manipulations, successfully treated with electrodetachable coil embolization. While the natural history of the VAFs is still to be settled, endovascular occlusion appears to be a safe and reliable method to deal with such lesions, mainly in symptomatic cases. The use of electrically detachable coils may be considered as an effective alternative for the endovascular occlusion of these fistulas.

Hemorrhagic vascular complications of endoscopic transsphenoidal surgery.

Two hundred and fifty consecutive patients operated on by an endoscopic endonasal transsphenoidal approach were retrospectively analyzed in order to evaluate hemorrhagic vascular complications occurring during or after the surgical procedure and their appropriate management. Vascular complications of endoscopic transsphenoidal surgery are identical to those of a microsurgical transsphenoidal approach. Damage to the sphenopalatine artery and to the internal carotid artery (ICA), which are the most frequent vascular troubles, may require technical tricks because of some aspects connected to the approach itself and of the physical properties of the endoscope. Furthermore, the progress in interventional neuroradiology in the last decades offers new solutions in respect to the past, where the use of the surgical microscope was already a tremendous progress. The anatomic substrate of each complication is discussed, along with the peculiar surgical details related to it.