Maffucci syndrome associated with a pituitary adenoma and a probable brainstem tumor

2009 ◽  
Vol 110 (2) ◽  
pp. 363-368 ◽  
Author(s):  
Joana Ruivo ◽  
João Lobo Antunes
Keyword(s):  
Visual Acuity ◽  
Pituitary Adenoma ◽  
Tumor Type ◽  
Intracranial Tumors ◽  
Rapid Improvement ◽  
Brainstem Tumor ◽  
Maffucci Syndrome ◽  
First Case ◽  
Clinical Surveillance

Malignancies are a common feature of Maffucci syndrome, with chondrosarcomas being the most common tumor type. The authors present the first case of Maffucci syndrome associated with a pituitary adenoma and a probable brainstem glioma and review the literature concerning intracranial tumors related to this disease. They report the case of a 35-year-old woman with Marfucci syndrome (diagnosed when she was 22 years old) who presented with complaints of decreased visual acuity and visual field defect. Neuroimaging revealed a pituitary macroadenoma and a suspected brainstem tumor. The macroadenoma was partially removed. There were no postoperative complications and the patient experienced rapid improvement in visual acuity. On follow-up examination 2 years later, the lesion in the pons showed the same dimensions. No sarcomatous changes of enchondromas or hemangiomas occurred. To the authors' knowledge, including the present case, only 7 cases of Maffucci syndrome associated with glioma and 7 cases associated with pituitary adenoma have been reported in the literature. This report emphasizes that patients with this disease are at a higher risk for primary intracranial tumors and reinforces the concept of the multiplicity of tumors that may arise in this syndrome. It also underscores the importance of early diagnosis, regular clinical surveillance, and follow-up studies of these patients.

scholarly journals P.168 Prediction of Pituitary Adenoma Recurrence using the SIPAP Classification

2021 ◽  
Vol 48 (s3) ◽  
pp. S68-S68
Author(s):  
M Alahmari ◽  
A Lasso ◽  
F Banaz ◽  
S Mohajeri ◽  
P Masoudian ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Pituitary Tumor ◽  
Tumor Grade ◽  
Tumor Type ◽  
Imaging Data ◽  
Recurrence Rates ◽  
Endoscopic Endonasal ◽  
Adenoma Recurrence ◽  
Logarithmic Curve

Background: Pituitary tumor recurrence following endoscopic endonasal transsphenoidal surgery (EETS) has been reported widely. We evaluated a modified score using the SIPAP classification system, combining the suprasellar and paraseller extension scores of the pituitary tumor, to determine its impact on adenoma recurrence. Methods: A retrospective cohort study design with patient characteristics, tumor type, endocrine, operation, imaging data collected. Preoperative MRI images were reviewed and SIPAP classification applied. Postoperative data were extracted for the follow-up period available for each patient.The suprasellar score and the highest parasellar scoring from both sides were numerically summed in a bilateral suprasellar and parasellar (SaP) score and combined to make 4 grades. Results: 276 patients were identified, 56.5% of the cohort was male. The mean cohort age was 54 years old.The mean follow up period was 32 months. Patient perioperative tumor grade according to SaP classification and recurrence rate was: Grade 1: 11%: Grade 2: 10%; Grade 3: 15%; Grade 4: 22%. The results followed a pattern of logarithmic curve. Conclusions: The SaP classification was useful in determining the pituitary tumor expected recurrence following EETS. The advanced tumors had the highest recurrence rates. Use of the SaP score may allow for more accurate preoperative counselling of patients with pituitary adenoma.

scholarly journals SUPRASELLAR TUMORS

2018 ◽  
Vol 25 (04) ◽  
pp. 603-609
Author(s):  
Farrukh Zulfiqar ◽  
Atiq Ahmed Khan ◽  
Muhammad Imran ◽  
Syed Ijlal Ahmed ◽  
Syeda Beenish Bareeqa ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Pituitary Adenoma ◽  
Cross Section ◽  
Case Series ◽  
P Value ◽  
Visual Improvement ◽  
Visual Deficit ◽  
Visual Status ◽  
Study Setting

Objectives: Our aim was to analyze the postoperative visual status in patientswith suprasellar tumors with preexisting preoperative visual deficit after surgical resection.Study Design: Comparative cross section study. Setting: Civil Hospital Karachi. Period:March 2013 to August 2016. Methods: A total of 107 patients with suprasellar tumors withpreoperative visual deficit who were operated. Either via transsphenoidal (43) or transcranial(64) approaches, were included in this case series. Sixty six patients had pituitary adenomas,24 had craniopharyngiomas, 13 had meningiomas, 3 had chordomas and 1 had epidermoidcyst. Twenty five patients had uniocular visual deficit and 82 had binocular. Visual acuity wasrecorded preoperatively, postoperatively at discharge and at four weeks follow-up. Results:Postoperatively 46% of eyes improved, while 34.4% and 19.6% remained same and deterioratedrespectively. Patients underwent transsphenoidal technique got significant 65% improvement,and those who underwent transcranial had 37.5% improvement (p-valve=0.005). Pituitaryadenomas showed the greatest visual improvement of 65% (p-value=0.000), followed bycraniopharyngiomas (33.5%) and meningiomas (7.6%). In total 52 patients (48.6%) showedimprovement in vision and the visual acuity of remaining 55 (51.4%) did not improve. Conclusion:Patients experience significant benefit in vision after decompressive surgery for suprasellartumors, especially those who have pituitary adenoma and who undergo transsphenoidaltechnique. 

scholarly journals Prenatal Diagnosis of Intracranial Tumors and the Difficulties in Prognostication: A Report of Three Cases

2015 ◽  
Vol 6 (2) ◽  
pp. 88-91
Author(s):  
Lavanya Rai ◽  
Akhila Vasudeva ◽  
Sapna V Amin ◽  
Rajagopal Kadavigere ◽  
Katta M Girisha
Keyword(s):  
Prenatal Diagnosis ◽  
Choroid Plexus ◽  
Choroid Plexus Papilloma ◽  
Good Prognosis ◽  
Neurological Involvement ◽  
Intracranial Tumors ◽  
Prenatal Mri ◽  
First Case ◽  
Rule Out

ABSTRACT Prenatal diagnosis of intracranial tumors generally implies a poor prognosis. We present three such cases, where prognostication was difficult. We attempted to correlate our prenatal counseling with postnatal follow-up/postabortal diagnosis. In the first case, tumor was diagnosed at 37 weeks. Ultrasound and fetal/neonatal MRI suggested a malignant intraventricular tumor. Anticipating guarded prognosis, parents refused neurosurgical intervention. At 1 year, child has normal neurodevelopment. Further magnetic resonance imagings (MRIs) show tumor shrinkage, pointing to a benign tumor. In case two, a choroid plexus tumor was diagnosed at midtrimester anomaly scan. Since it was difficult to rule out a malignant tumor, pregnancy was terminated. However, MRI, autopsy, and histopathology confirmed a choroid plexus papilloma, which is known to have good prognosis. In case three, prenatal MRI showed features of neurological involvement in tuberous sclerosis. However child has no neurological manifestations at 1 year of age. Hence, prognostication of prenatally diagnosed brain tumors remains a challenge. How to cite this article Vasudeva A, Amin SV, Kadavigere R, Girisha KM, Rai L. Prenatal Diagnosis of Intracranial Tumors and the Difficulties in Prognostication: A Report of Three Cases. Int J Infertil Fetal Med 2015;6(2):88-91.

scholarly journals Nd:YAG Laser Photodisruption for Multilevel Premacular Hemorrhage due to Isolated Retinal Venous Macroaneurysm

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Kenan Sonmez ◽  
Pehmen Y. Ozcan
Keyword(s):  
Visual Acuity ◽  
Fluorescein Angiography ◽  
Laser Treatment ◽  
Nd:Yag Laser ◽  
Blood Cells ◽  
Internal Limiting Membrane ◽  
Hand Motion ◽  
First Case ◽  
The Right

A 55-year-old man presented with sudden deterioration of vision in the right eye. His visual acuity was reduced to hand motion because of a large multilevel premacular hemorrhage. Nd:YAG laser was performed to drain the entrapped hemorrhage under the internal limiting membrane (ILM) and posterior hyaloid face in the macula into the vitreous. Immediately after laser treatment, streaming of red blood cells into the vitreous gel through the perforation site was observed. At the first-month follow-up, BCVA improved to 20/25 and ILM wrinkling was observed at the macula where the preretinal hemorrhage cleared. Fluorescein angiography revealed an isolated retinal venous macroaneurysm located on the macular branch of the superotemporal vein at the bifurcation site. In contrast to retinal arterial macroaneurysms, retinal venous macroaneurysms are quite rare. To the best of our knowledge, this is the first case reported with multilevel premacular hemorrhage caused by an isolated retinal venous macroaneurysm.

scholarly journals SURG-08. SURGICAL OUTCOMES OF PITUITARY ADENOMAS TREATED WITH TRANSSPHENOIDAL SURGERY: A SINGLE INSTITUTION’S EXPERIENCE

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi241-vi241
Author(s):  
Young Beom Seo ◽  
Oh-Lyong Kim
Keyword(s):  
Growth Hormone ◽  
Pituitary Adenoma ◽  
Surgical Outcomes ◽  
Pituitary Adenomas ◽  
Transsphenoidal Surgery ◽  
Cerebrospinal Fluid Leakage ◽  
Time Interval ◽  
Tumor Type ◽  
Visual Disturbances

Abstract We retrospectively analyzed surgical outcomes of transsphenoidal surgery for pituitary adenomas. A total of 366 consecutive patients undergoing transsphenoidal surgery for a pituitary adenoma from December 1990 through May 2017 were included in this study. The most common tumor type was nonfunctioning pituitary adenoma (NFPA) (63.7%), followed by prolactin-secreting adenoma (20.5%), growth hormone-secreting adenoma (13.4%), adrenocorticotropin-secreting adenoma (2.2%), and thyrotropin-secreting adenoma (0.2%). This cohort study consisted of 164 male and 202 female patients. The median patients age was 48 years. The median follow-up duration was 63 months. Gross-total resection (GTR) was achieved in 83.7% of patients with a NFPA, 76% of prolactin-secreting adenomas, 71.4% of growth hormone-secreting adenomas, 75% of adrenocorticotropin-secreting adenomas, 100% of thyrotropin-secreting adenomas. There were 326 macroadenomas (69.1%). Surgical outcome was better in patients with microadenomas than in patients with macroadenomas (100% and 77.9%, respectively). Improvement of visual disturbances occurred in 148 (93.7%) of the 158 cases. Hormonal impairment by pituitary adenoma was improved in 105 (87.5%) of the 120 cases. There were 24 (8.2%) cases of recurrence after GTR; 17 patients underwent second surgery, 5 patients received radiotherapy, and the others continued conservative treatment. The median time interval between TSA and recurrence was 56 months. Postoperative cerebrospinal fluid leakage occurred in seven (1.9%) of 366 patients. Transsphenoidal surgery is an effective and safe treatment modality for most patients with pituitary adenoma.

scholarly journals Optic nerve sheath meningioma endoscopic endonasal surgical management

2020 ◽  
Vol 11 ◽  
pp. 90
Author(s):  
Igor Paredes ◽  
José Antonio Fernandez Alén ◽  
Alfredo García ◽  
Esther García ◽  
Alfonso Lagares
Keyword(s):  
Visual Acuity ◽  
Optic Nerve ◽  
Surgical Approaches ◽  
Case Description ◽  
Endoscopic Endonasal ◽  
The Poor ◽  
Nerve Sheath ◽  
First Case ◽  
Optic Nerve Sheath Meningioma

Background: Meningiomas of the optic sheath have been traditionally treated with radiotherapy, among other reasons, because of the poor results in terms of visual preservation of the open surgical approaches. Case Description: Two cases of optic nerve meningioma were operated through an endoscopic endonasal expanded approach due to rapidly progressing visual deterioration and doubtful diagnosis. In the first case an exclusively bone decompression was performed. In the second one a partial resection of the intradural portion and complete opening of the dural sheath was undertaken. In both cases visual acuity remained stable without further treatment for the 2 years follow up. Conclusions: Endoscopic endonasal decompression of the optic nerve by removal of the optic canal and opening of the optic sheath is safe. This approach is feasible for optic sheath meningioma. This treatment might be considered as an option in patients with rapidly deteriorating visual acuity.

scholarly journals Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome

2016 ◽  
Vol 124 (6) ◽  
pp. 1562-1567 ◽  
Author(s):  
Shuyu Hao ◽  
Christopher S. Hong ◽  
Jie Feng ◽  
Chunzhang Yang ◽  
Prashant Chittiboina ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Dna Sequencing ◽  
Isocitrate Dehydrogenase ◽  
Pituitary Adenomas ◽  
Somatic Mosaicism ◽  
Intracranial Tumors ◽  
Isocitrate Dehydrogenase 1 ◽  
Maffucci Syndrome ◽  
Suprasellar Region ◽  
Isocitrate Dehydrogenase 2

Maffucci syndrome is a rare disease characterized by multiple enchondromas and soft-tissue hemangiomas. Additionally, neuroendocrine tumors including pituitary adenomas have been described in these patients. The underlying genetic etiology lies in somatic mosaicism of mutations in isocitrate dehydrogenase 1 (IDH1) or isocitrate dehydrogenase 2 (IDH2). This report describes a patient with Maffucci syndrome who presented with intracranial tumors of the skull base and suprasellar region. The patient underwent resection of both intracranial tumors, revealing histopathological diagnoses of chondrosarcoma and pituitary adenoma. DNA sequencing of the tumors was performed to identify common IDH1/2 mutations. Clinical, radiological, and biochemical assessments were performed. Genotypic studies used standard Sanger sequencing in conjunction with a target-specific peptide nucleic acid to detect IDH1 mutations in tumor tissues. DNA sequencing demonstrated identical IDH1 mutations (c.394C > T) in both tumors. To the authors’ knowledge, this report provides the first genetic evidence for the inclusion of pituitary adenomas among tumors characterizing Maffucci syndrome. In patients who are newly diagnosed with Maffucci syndrome, it is appropriate to monitor for development of pituitary pathology and neuroendocrine dysfunction.

scholarly journals Alopecia Universalis Occurring after Alemtuzumab Treatment for Multiple Sclerosis. A Two-Year Follow-Up of Two Patients

2021 ◽  
Vol 18 (14) ◽  
pp. 7338
Author(s):  
Giovanna Borriello ◽  
Antonio Ianniello ◽  
Ahmed T Toosy
Keyword(s):  
Multiple Sclerosis ◽  
Cytotoxic T Cells ◽  
Severe Form ◽  
Significant Drop ◽  
Alopecia Universalis ◽  
Patient Screening ◽  
First Case ◽  
Clinical Surveillance ◽  
One Year

Alopecia Universalis (AU) is the most severe form of Alopecia Areata and is caused by cytotoxic T-cells reacting with follicular autoantigens, producing complete loss of scalp and body hair. Alemtuzumab is a highly efficacious monoclonal antibody used in the treatment of Multiple Sclerosis (MS), but it causes secondary autoimmunity in up to 40% of patients. Many factors are believed to contribute to this process, but pathogenic mechanisms are not well clear. To date, three cases of AU after treatment with Alemtuzumab have been reported. In this paper we report the cases of two patients who developed AU 12 months after the second cycle of Alemtuzumab, with a review of the literature. One year after the end of the second cycle, two female patients in their thirties experienced complete hair loss. The first case was temporally associated with a significant drop in vitamin D (VD) levels. The second case was accompanied by joint swelling. Both patients had thyroid alterations and showed no hair regrowth after a 2-year follow-up. AU must be considered among the secondary autoimmune manifestations of Alemtuzumab treatment. We emphasize the need for appropriate patient screening and thorough clinical surveillance for factors predisposing patients to secondary autoimmunity.

When fever is more than infection: two cases of vancomycin-induced drug reaction with eosinophilia and systemic symptoms (DRESS)

2021 ◽  
Vol 14 (1) ◽  
pp. e238006
Author(s):  
Mitchell Cox ◽  
Sophie Paviour ◽  
Sophie Gregory ◽  
Rusheng Chew
Keyword(s):  
Drug Reaction ◽  
Cytomegalovirus Reactivation ◽  
First Case ◽  
Metropolitan Hospital ◽  
Orthopaedic Ward ◽  
Systemic Hypersensitivity ◽  
Systemic Symptoms ◽  
Inflammatory Syndrome ◽  
Intravenous Glucocorticoids

Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare, but serious systemic hypersensitivity reaction associated with a range of medications. We present two cases of vancomycin-induced DRESS, which occurred simultaneously in the orthopaedic ward in an outer metropolitan hospital. These cases demonstrate the complexity in the diagnosis and management of this inflammatory syndrome on the background of known infection as well as evidence for linezolid as an alternative to vancomycin. The first case was managed conservatively, but developed progressive renal and liver injury along with demonstrated cytomegalovirus reactivation and recurrent colitis, and was eventually palliated. The second was commenced on intravenous glucocorticoids and achieved remission, although had ongoing renal dysfunction at the time of discharge from outpatient follow-up.

Complete resolution of acute pancreatitis-induced chylous ascites following transhepatic portal vein stenting

2020 ◽  
Vol 13 (12) ◽  
pp. e235986
Author(s):  
Alexander Tindale ◽  
James Jackson ◽  
Darina Kohoutova ◽  
Panagiotis Vlavianos
Keyword(s):  
Portal Vein ◽  
Complete Resolution ◽  
Chylous Ascites ◽  
Biliary Pancreatitis ◽  
Acute Biliary Pancreatitis ◽  
Portal Vein Stenosis ◽  
First Case ◽  
Vein Stenosis ◽  
Inflammatory Changes

We introduce a case of a 73-year-old man who developed intractable chylous ascites due to portal vein compression as a result of peripancreatic inflammatory changes after acute biliary pancreatitis. After stenting the portal vein stenosis, the chylous ascites improved from requiring weekly paracentesis to requiring no drainage within 4 months of the procedure and at the 15-month follow-up. To our knowledge, it is the first case reported in the literature where portal vein stenting has successfully been used to treat pancreatitis-induced chylous ascites.

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