scholarly journals Symptomatic large or giant capillary telangiectasias: management and outcome in 5 cases

2016 ◽  
Vol 125 (1) ◽  
pp. 160-166 ◽  
Author(s):  
Tao Yu ◽  
Xingwen Sun ◽  
Yan You ◽  
Jie Chen ◽  
Jun-mei Wang ◽  
...  
Keyword(s):  
Vision Loss ◽  
Clinical Course ◽  
Complete Removal ◽  
Neurological Deficits ◽  
Radiological Findings ◽  
Brain Capillary ◽  
Generalized Seizures ◽  
Clinical Presentations ◽  
Uncontrolled Bleeding

Brain capillary telangiectasias (BCTs) are usually small and benign with a predilection in the pons and basal ganglion. Reports of large and symptomatic BCTs are rare. Large BCTs have a much higher risk of causing uncontrolled bleeding and severe neurological defects, and they can be fatal if left untreated. Therefore, large BCTs should be managed with special caution. Because of the lack of reports, diagnosis of large BCTs has been difficult. Strategies of management are undefined for large or giant BCTs. The current study presents 5 cases of giant and large BCTs. To the authors’ knowledge, this is the largest series of this disease ever reported. Radiological findings, histopathological characteristics, clinical presentations, and surgical management were analyzed in 5 symptomatic, unusually large BCTs (mean diameter 5.06 cm, range 1.8–8 cm). Four patients presented with focal or generalized seizures, and 1 patient presented with transient vision loss attributed to the lesions. Gross-total resection of the lesion was achieved in all patients. After surgery, the 4 patients with seizures were symptom free for follow-up periods varying from more than 1 to 5 years with no additional neurological deficits. The unique location, radiological characteristics, and clinical course suggest that giant BCTs could be a different entity from small BCTs. Surgery might be a good option for treatment of patients with intractable neurological symptoms, especially in those with surgically accessible locations. Complete removal would be anticipated to provide relief of the symptoms without causing new neurological deficits.

scholarly journals ‘Failure’ of laser prophylaxis in an eye with stickler syndrome

2021 ◽  
Vol 11 (4) ◽  
pp. 110-111
Author(s):  
Michael P Blair
Keyword(s):  
Vision Loss ◽  
Clinical Course ◽  
Case Reports ◽  
Visual Outcome ◽  
Stickler Syndrome ◽  
Connective Tissue Disorders ◽  
Macular Function ◽  
Giant Retinal Tear ◽  
Case Summary

Background: Stickler syndrome is one of the most common inherited connective tissue disorders and is an important cause of pediatric vision loss due to a high risk of retinal detachment in these patients. Methods: Case report. Case summary: This case reports describes the clinical course of a 10 year old boy with Sticklers Syndrome who underwent bilateral peripheral laser prophylaxis. During routine follow up, he was found to have an asymptomatic giant retinal tear (GRT) with limited sub-retinal fluid expansion due to prior prophylactic laser. He underwent surgery with vitrectomy and scleral buckle with vision remaining at 20/25 at 6 month follow up. Conclusion: Although the utility of laser prophylaxis in Stickler patients is debated, this case demonstrates that after laser prophylaxis, even if GRT develops, expansion can be limited. Laser prophylaxis along with frequent examinations, can prevent development of PVR and complex detachments and preserve macular function with excellent visual outcome.

scholarly journals Prognostic Biomarkers of Sarcoidosis: A Comparative Study of Serum Chitotriosidase, ACE, Lysozyme, and KL-6

2019 ◽  
Vol 2019 ◽  
pp. 1-7 ◽  
Author(s):  
Laura Bergantini ◽  
Francesco Bianchi ◽  
Paolo Cameli ◽  
Maria Antonietta Mazzei ◽  
Annalisa Fui ◽  
...  
Keyword(s):  
Steroid Therapy ◽  
Lung Fibrosis ◽  
Clinical Utility ◽  
Clinical Course ◽  
Unknown Etiology ◽  
Serum Concentrations ◽  
Referral Centre ◽  
Clinical Presentations ◽  
Serum Detection

Purpose. Sarcoidosis is a systemic granulomatous disease with unknown etiology. Many clinical presentations have been reported, and acute disease needs to be distinguished from subacute and chronic disease. The unpredictable clinical course of the disease prompted us to evaluate the clinical utility of biomarker serum detection in sarcoidosis follow-up. Methods. Serum concentrations of chitotriosidase, ACE, KL-6, and lysozyme were analyzed by different methods in a population of 74 sarcoidosis patients (46 on steroid therapy at sampling) regularly monitored at Siena Sarcoidosis Regional Referral Centre and in a group of controls with the aim of comparing their contribution to clinical management of sarcoidosis patients. Results. KL-6 concentrations were significantly elevated in sarcoidosis patients with lung fibrosis and were significantly correlated with DLco and CPI score, while chitotriosidase was significantly higher in patients with extrapulmonary localizations. With a cut-off value of 303.5 IU/ml, KL-6 showed the best sensitivity (78%), while chitotriosidase reported the best specificity (85%) among the biomarkers. Conclusions. KL-6 is a reliable biomarker of fibrotic lung involvement in sarcoidosis patients. Among biomarkers, KL-6 showed the best sensitivity and serum chitotriosidase the best specificity, even in patients on chronic steroid therapy, and seemed to correlate with extrapulmonary localizations.

Endoscopic endonasal resection of Rathke cleft cysts: clinical outcomes and surgical nuances

2010 ◽  
Vol 112 (6) ◽  
pp. 1333-1339 ◽  
Author(s):  
Ricky Madhok ◽  
Daniel M. Prevedello ◽  
Paul Gardner ◽  
Ricardo L. Carrau ◽  
Carl H. Snyderman ◽  
...  
Keyword(s):  
Incidental Finding ◽  
Intraoperative Complications ◽  
Complete Removal ◽  
Neurological Deficits ◽  
Endoscopic Endonasal ◽  
Average Hospital ◽  
Cyst Volume ◽  
Pituitary Dysfunction ◽  
Postoperative Improvement

Object Rathke cleft cysts (RCCs) are benign lesions that can be diagnosed as an incidental finding associated with headaches, pituitary dysfunction, or vision deterioration. Typically, they occur in a sellar or suprasellar location. The aim of this study was to review the clinical presentation and outcomes associated with endoscopic endonasal resection of these lesions. Methods The authors retrospectively reviewed a series of 35 patients with a diagnosis of RCC after endoscopic endonasal resection at the University of Pittsburgh between January 1998 and July 2008. Results All 35 patients underwent a purely endoscopic endonasal approach (EEA). The average patient age was 34 years (range 12–67 years), and the average follow-up was 19 months (range 1–60 months). Clinical follow-up data were available for 32 patients, and radiographic follow-up data were accessible for 33 patients. All of the patients underwent complete removal of the cyst contents, and according to radiography studies 2 patients had a recurrence, neither of which required reoperation. The mean cyst volume was 1052.7 mm3 (range 114–6044 mm3). Headache was a presenting symptom in 26 (81.2%) of 32 patients, with 25 (96.1%) of 26 having postoperative improvement in their headaches. Fifteen (57.7%) of the 26 patients had complete pain resolution, and 10 (38.5%) had a > 50% reduction in their pain scores. Six (18.8%) of 32 patients initially presented with pituitary dysfunction, although 2 (33.3%) had postoperative improvement. Three (9.4%) of 32 patients had temporary pituitary dysfunction postoperatively, although there was no permanent pituitary dysfunction. Neither were there any intraoperative complications, postoperative CSF leaks, or new neurological deficits. The average hospital stay was 1.8 days (range 1–5 days). Conclusions The EEA is a safe and effective approach in the treatment of RCCs. None of the patients in this study experienced any worsening of their preoperative symptoms or pituitary function, and 96% of the patients who had presented with headache experienced complete or significant pain relief following treatment.

Borden-Shucart Type I dural arteriovenous fistulas: clinical course including risk of conversion to higher-grade fistulas

2012 ◽  
Vol 117 (3) ◽  
pp. 539-545 ◽  
Author(s):  
Manish N. Shah ◽  
James A. Botros ◽  
Thomas K. Pilgram ◽  
Christopher J. Moran ◽  
DeWitte T. Cross ◽  
...  
Keyword(s):  
Intracranial Hemorrhage ◽  
Clinical Course ◽  
Retrospective Chart Review ◽  
Annual Rate ◽  
Neurological Deficits ◽  
Type I ◽  
Arteriovenous Fistulas ◽  
Presenting Symptoms ◽  
Dural Arteriovenous Fistulas

Object The goal of this study was to determine the clinical course of Borden-Shucart Type I cranial dural arteriovenous fistulas (DAVFs) and to calculate the annual rate of conversion of these lesions to more aggressive fistulas that have cortical venous drainage (CVD). Methods A retrospective chart review was conducted of all patients harboring DAVFs who were seen at the authors' institution between 1997 and 2009. Twenty-three patients with Type I DAVFs who had available clinical follow-up were identified. Angiographic and clinical data from these patients were reviewed. Neurological outcome and status of presenting symptoms were assessed during long-term follow-up. Results Of the 23 patients, 13 underwent endovascular treatment for intolerable tinnitus or ophthalmological symptoms, and 10 did not undergo treatment. Three untreated patients died of unrelated causes. In those who were treated, complete DAVF obliteration was achieved in 4 patients, and palliative reduction in DAVF flow was achieved in 9 patients. Of the 19 patients without radiographic cure, no patient developed intracranial hemorrhage or nonhemorrhagic neurological deficits (NHNDs), and no patient died of DAVF-related causes over a mean follow-up of 5.6 years. One patient experienced a spontaneous, asymptomatic obliteration of a partially treated DAVF in late follow-up, and 2 patients experienced a symptomatic conversion of their DAVF to a higher-grade fistula with CVD in late follow-up. The annual rate of conversion to a higher-grade DAVF based on Kaplan-Meier cumulative event-free survival analysis was 1.0%. The annual rate of intracranial hemorrhage, NHND, and DAVF-related death was 0.0%. Conclusions A small number of Type I DAVFs will convert to more aggressive DAVFs with CVD over time. This conversion to a higher-grade DAVF is typically heralded by a change in patient symptoms. Follow-up vascular imaging is important, particularly in the setting of recurrent or new symptoms.

scholarly journals Osteoid osteomas and osteoblastomas of the spine

2003 ◽  
Vol 15 (5) ◽  
pp. 1-7 ◽  
Author(s):  
Mehmet Zileli ◽  
Sedat Çagli ◽  
Gülçin Basdemir ◽  
Yusuf Ersahin
Keyword(s):  
Osteoid Osteoma ◽  
Cervical Vertebra ◽  
Complete Removal ◽  
The Body ◽  
Neurological Deficits ◽  
Common Symptom ◽  
Primary Bone Tumors ◽  
Female Patients ◽  
Primary Bone

Object Osteoid osteomas and osteoblastomas are rare primary bone tumors that usually do not arise in the spine. In this report the authors analyze 16 cases of osteoid osteoma or osteoblastoma of the spine that were surgically treated over a 27-year period. Methods A retrospective study was conducted in which the following data were found: five patients had osteoid osteomas (two male and three female patients) and 11 had osteoblastomas (seven male and four female patients). The site of the tumor was the cervical spine in four, thoracic in six, and lumbar spine in six. In 14 patients, the tumor involved the posterior vertebral elements, with lumbar and thoracic levels being the most common. Only two patients had tumors in the body of a cervical vertebra. The mean age of the patients was 20 years for osteoid osteoma and 19 years for osteoblastoma. The most common symptom was local pain in the area of the tumor. Among 11 patients with osteoblastoma, six (two with paraparesis, four with monoparesis) had neurological deficits caused by extradural compression. None of the patients with osteoid osteoma had neurological deficits. The diameters of osteoblastomas were 3 to 8 cm (mean 4 cm), and those of osteoid osteomas were 1.5 to 2 cm (mean 1.7 cm). Although the peritumoral bone was normal in patients with osteoblastoma, a sclerotic rim was observed in all patients with osteoid osteoma. All patients were treated with resection; tumor excision was complete in 15 cases. Follow-up periods ranged from 2 months to 13 years (mean 36 months). Complete pain relief was achieved in 15 patients; the other patient described mild pain with activity. There was no tumor recurrence except one regrowth in a patient with osteoblastoma who then received radiation therapy. There were two complications: one surgery was performed at the wrong level, and there was one instrument failure that required revision. Conclusions With the help of modern imaging modalities that aid in diagnosis and surgical planning, a complete removal and cure may be achieved for most of these rare tumors.

scholarly journals Myocarditis: Which Role for Genetics?

2021 ◽  
Vol 23 (6) ◽  
Author(s):  
Chiara Baggio ◽  
Giulia Gagno ◽  
Aldostefano Porcari ◽  
Alessia Paldino ◽  
Jessica Artico ◽  
...  
Keyword(s):  
Genetic Background ◽  
Clinical Course ◽  
Risk Profile ◽  
Myocardial Inflammation ◽  
Genetic Defects ◽  
Prognostic Role ◽  
Clinical Presentations

Abstract Purpose of Review Myocarditis is a polymorphic disease, both in its presentation and clinical course. Recent data suggests that the genetic background, interacting with environmental factors, could be diriment both in the susceptibility and evolution of myocarditis in different clinical presentations. The aim of this paper is to expose the current available evidences and the evolving concepts on this topic, in order to provide insight for improving the clinical management of those patients. In this regard, the main goal is an optimal characterization of each patient’s risk, with the purpose of individualizing the treatment and the follow-up. Recent Findings The latest research highlights the possible prognostic role of some pathogenic mutations that could create a vulnerable myocardium prone to myocardial inflammation and also to the development of a long-lasting cardiomyopathy. Summary The identification of these genetic defects and of myocarditis patients requiring genetic testing is emerging as a challenge for the future. In fact, identifying a possible genetic background responsible for a particularly high-risk profile could be of extreme importance in improving management of myocarditis. This and many other aspects in the genetics of myocarditis remain uncovered, and further studies are expected based to refine our daily clinical practice.

scholarly journals Recurrent unilateral restrictive elevation deficit in childhood: a tailored approach

2021 ◽  
Vol 14 (6) ◽  
pp. e240561
Author(s):  
Deepesh Unni ◽  
Abdul Shameer ◽  
Pradeep Sharma
Keyword(s):  
Clinical Course ◽  
Rectus Muscle ◽  
Complete Relief ◽  
Single Muscle ◽  
Inferior Rectus ◽  
Clinical Presentations ◽  
Tailored Approach ◽  
Multiple Recurrences ◽  
Inferior Rectus Muscle

Monocular elevation deficiency poses a challenge to strabismus surgeons on account of its varied clinical presentations as well as management which often needs a tailored approach. We report on a young child who presented to us at 6 months of age with a clinical course marked by primary involvement of the inferior rectus muscle in one eye causing restricted elevation in all gazes and complete relief of hypotropia following disinsertion of the affected muscle but followed by recurrence and additional procedures (antimitotic application and superior rectus plication) for the same. She followed a recalcitrant clinical course which was marked by multiple recurrences requiring a tailored approach and finally managed successfully with a follow-up of 3 years, by now. This case demonstrates the almost intractable nature of restrictive pathology involving a single muscle warranting multiple surgeries and a close follow-up with good surgical outcome.

Evolution of the Management of Tentorial Dural Arteriovenous Malformations

Neurosurgery ◽  
2003 ◽  
Vol 52 (4) ◽  
pp. 750-762 ◽  
Author(s):  
Patrick R. Tomak ◽  
Harry J. Cloft ◽  
Akihiko Kaga ◽  
C. Michael Cawley ◽  
Jacques Dion ◽  
...  
Keyword(s):  
Arteriovenous Malformations ◽  
Therapeutic Strategy ◽  
Transarterial Embolization ◽  
Treatment Strategies ◽  
Venous Drainage ◽  
Neurological Deficits ◽  
Transvenous Embolization ◽  
Single Institution ◽  
Clinical Presentations

Abstract OBJECTIVE Tentorial dural arteriovenous malformations (DAVMs) are uncommon lesions associated with an aggressive natural history. Controversy exists regarding their optimal treatment. We present a single-institution series of tentorial DAVMs treated during a 12-year period, address the current controversies, and present the rationale for our current therapeutic strategy. METHODS Twenty-two patients with tentorial DAVMs were treated between 1988 and 2000. Treatment consisted of transarterial or transvenous embolization, surgical resection, disconnection of venous drainage, or a combination of these therapies. The clinical presentations, radiological features, treatment strategies, and results were studied. RESULTS Eighteen patients (82%) presented with intracranial hemorrhage or progressive neurological deficits. Retrograde leptomeningeal venous drainage was documented in 22 cases (100%), classifying the lesions as Borden Type III. Angiographic follow-up monitoring was performed for 0 to 120 months and clinical follow-up monitoring for 1 to 120 months. Posttreatment angiography demonstrated obliteration in 22 cases (100%). Two patients experienced neurological decline after endovascular treatment and died. All of the 20 surviving patients exhibited clinical improvement; there were no episodes of rehemorrhage or new neurological deficits. Outcomes were excellent in 17 cases (77%), good in 2 cases (9%), and fair in 1 case (5%), and there were 2 deaths (9%). CONCLUSION Tentorial DAVMs are aggressive lesions that require prompt total angiographic obliteration. Disconnection of the venous drainage from the fistula may be accomplished with transarterial embolization to the venous side, transvenous embolization, or surgical disconnection of the fistula. We think that extensive nidal resections carry more risk and are unnecessary. We do not think there is a role for stereotactic radiosurgery in the treatment of these lesions.

Natural history of brain capillary vascular malformations in hereditary hemorrhagic telangiectasia patients

2016 ◽  
Vol 9 (1) ◽  
pp. 26-28 ◽  
Author(s):  
Waleed Brinjikji ◽  
Vivek N Iyer ◽  
Giuseppe Lanzino ◽  
Kent R Thielen ◽  
Christopher P Wood
Keyword(s):  
Natural History ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Vascular Malformations ◽  
Neurological Deficits ◽  
Secondary Outcome ◽  
Consecutive Series ◽  
Focal Neurological Deficit ◽  
Brain Capillary ◽  
History Of

Background and purposeBrain capillary vascular malformations (CVMs) are known to occur with relatively high frequency in hereditary hemorrhagic telangiectasia (HHT) patients. These lesions are thought to have a benign natural history but this has not been systematically studied. The purpose of our study was to examine the natural history of CVMs in a consecutive series of HHT patients.Materials and methodsConsecutive patients with untreated CVMs receiving serial imaging were included. Baseline data including demographics, HHT gene mutations, and Curacao diagnostic criteria were collected. The primary outcome was rupture on follow-up. A secondary outcome was new focal neurological deficit or seizure related to the lesion.Results22 patients with 42 CVMs were included. Mean age was 45.9±16.9 years. 18 patients (81.8%) were women and 4 (18.2%) were men. 19 patients (86.4%) had definite HHT and 3 patients (13.6%) had probable HHT. Mean follow-up was 4.6±3.7 years. There were a total of 100.2 patient years of follow-up and 222.5 lesion years. No lesions ruptured on follow-up and no patient had focal neurological deficits or seizures related to the lesions.ConclusionsOur study found that CVMs in HHT patients have a benign natural history as no patients had hemorrhage or other symptoms related to these lesions. These findings should be confirmed in additional multicenter longitudinal studies.

scholarly journals Frontal sinus cholesteatoma: a masquerading diagnosis

2019 ◽  
Vol 12 (11) ◽  
pp. e231495
Author(s):  
Regi Kurien ◽  
Leah Thomas ◽  
Lalee Varghese ◽  
Bijesh Ravindran Nair
Keyword(s):  
Paranasal Sinus ◽  
Frontal Sinus ◽  
Histopathological Examination ◽  
Malignant Lesion ◽  
Rare Condition ◽  
Neurological Deficits ◽  
Radiological Findings ◽  
Bony Erosion ◽  
Rule Out

Cholesteatoma of the paranasal sinus is a very rare condition. As in the tympanomastoid region where cholesteatomas are a common entity, the paranasal sinus cholesteatomas also tend to erode the surrounding bony structures. Because of the extensive bony erosion, this condition often masquerades as a chronic granulomatous or a malignant lesion. Clinical presentation can be quite varied like facial deformities, visual and neurological deficits. Radiological findings are also non-specific making a preoperative diagnosis challenging. Histopathological examination is the only confirmatory investigation. We present a patient with frontal cholesteatoma who presented with forehead swelling of 1 month duration. Since the diagnosis could be obtained only intraoperatively, the patient required multiple surgeries. Frontal sinus cholesteatomas often require a combined endoscopic and external approach to ensure complete disease clearance. Periodic follow-up is essential to rule out recurrence.

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