scholarly journals MON-LB49 Atypical Presentation for a 5.5-cm Macroprolactinoma: Unilateral Visual Loss and Only Partial Hypopituitarism; Asymptomatic Hypogonadism

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
panadeekarn panjawatanan ◽  
Vijaykumar Sekar ◽  
Joseph Hughes
Keyword(s):  
Family History ◽  
Optic Nerve ◽  
Visual Field ◽  
Prolactin Level ◽  
Mass Effect ◽  
Optic Nerve Atrophy ◽  
Suprasellar Region ◽  
Patient Reported ◽  
History Of ◽  
Bitemporal Hemianopia

Abstract Background: Macroprolactinoma is an uncommon pituitary tumor which presents mainly in males. The usual presentation is headache, bitemporal hemianopia, and signs/symptoms of hypogonadism. Ours is a case report of 5.5 –cm macroprolactinoma presented with unilateral optic nerve atrophy and asymptomatic hypogonadism. Clinical case: A 50-year-old male with past medical history of type 2 diabetes mellitus and essential hypertension presented with progressive blurred vision of the left eye for 6 months. He was able to perceive color but had difficulty reading. There was occasional headache with left periorbital pain. He was seen by an optometrist and was found to have left optic disc atrophy with suspicion of glaucoma. Subsequent visual field test showed entire left and right superior temporal loss. MRI of the pituitary showed 5.5 x 5.6 x 5.3 cm enhancing mass centered in the sellar/suprasellar region. There was significant mass effect with compression of the optic chiasm, temporal lobe and brainstem. The patient reported mood changes, normal libido, but loss of morning erection. He has family history of pituitary macroadenoma with left optic nerve compression. On physical examination, there were left visual field defect and decreased visual acuity. There were no signs of Cushing’s syndrome, hypothyroidism, acromegaly, or hypogonadism. Laboratory tests showed prolactin of >200 ng/ml and 16,610 ng/ml after dilution (male <13), total testosterone 92 ng/dl (240-950) and free testosterone 1.20 mg/dl (4.26-16.40). Surprisingly, other pituitary hormones were normal: AM cortisol 20.3 µg/dl (6-27), GH 0.24 ng/ml (0.01-0.97), IGF-1 58 ng/ml (40-259), FSH 4 IU/l (1-18), LH 3 IU/l (1.3-9.6), TSH 1.38 µIU/ml (0.34-3), and free T4 0.8 ng/dl (0.6-1.6). The patient underwent surgery with partial resection. Pathology revealed lactotroph adenoma. Postoperative prolactin level was 11,900 ng/ml. Medical treatment with cabergoline 0.25 mg twice weekly has been started. Conclusion: Even though profoundly hypogonadal by labs, the presentation for this 5.5-cm prolactinoma was acute vision loss. The highly elevated prolactin level correlates with the size of macroadenoma. The typical presentation of local mass effect is bitemporal hemianopia, but in our case the patient presented with unilateral optic nerve atrophy. Despite a 5.5-cm lesion, there is partial hypopituitarism; hypogonadism. Based on the size, one would have expected panhypopituitarism. Given a family history of macroadenoma, there might be genetic predisposition. Molecular testing is planned.

scholarly journals Association Between Endoscopic, Radiologic and Patient-reported Chronic Rhinosinusitis with Nasal Polyps

2019 ◽  
Vol 10 (1) ◽  
pp. 1-8
Author(s):  
A. Luukkainen ◽  
J. Numminen ◽  
M. Rautiainen ◽  
A. Julkunen ◽  
H. Huhtala ◽  
...  
Keyword(s):  
Family History ◽  
Early Detection ◽  
Chronic Rhinosinusitis ◽  
Nasal Polyps ◽  
Positive Family History ◽  
Ct Scans ◽  
Nasal Endoscopy ◽  
Controlled Study ◽  
Patient Reported ◽  
History Of

Objectives: Chronic Rhinosinusitis without Nasal Polyps (CRSsNP) and with Nasal Polyps (CRSwNP) affect 10% and 1-4% of the general population respectively. Early detection and treatment of CRSwNP might prevent recalcitrant disease forms. The aim of this prospective controlled study was to evaluate association between endoscopic, radiologic, and self-reported CRSwNP, and a family history in defining CRSwNP. Methods: This study involved 73 CRS patients aged 18 years or over undergoing CRS-surgical consultation at the Tampere University Hospital. Data of sinus Computed Tomography (CT) scans and nasal endoscopy was obtained from patient records. Sixty controls ±allergic rhinitis underwent clinical examination. All subjects filled a questionnaire. Associations were analyzed by Chi square and adjusted regression models. The predictive performance of various parameters was assessed using the Area Under the Receiver Operating Characteristic curve (AUROC). Results: A total of 33% of CRSwNP patients reported not having Nasal Polyps (NPs), while 18% of CRSsNP patients reported having NPs (p < 0.001). Radiologic Nasal Polyp (NP) score differentiated CRSwNP from CRSsNP with an AUROC of 0.95 (95% CI 0.91-1.00). The AUROC value for Lund-Mackay (LM) score was 0.84 (0.75-0.94). Positive family history of NP did not differ significantly between CRS and control groups. Family history of allergy or asthma was given with certainty, whereas CRS patients had uncertainty of reporting NPs in family compared to controls (adjusted OR=6.02, 95% CI 1.98-18.30, p = 0.002). Conclusion: Our findings suggest that in situations where nasal endoscopy cannot be performed, early detection of CRSwNP could result from information obtained from sinus CT scans and patients, in comparison to family history which has lower predictive value. However validation studies with larger sample sizes are still needed.

scholarly journals Never Forget the Family History: MEN2A Syndrome Presenting as Metastatic Medullary Thyroid Cancer and Bilateral Pheochromocytoma

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A1001-A1002
Author(s):  
Lisette Patricia Rodriguez ◽  
Jesus B Perez ◽  
Wilhelmine Wiese-Rometsch
Keyword(s):  
Thyroid Cancer ◽  
Lymph Node ◽  
Family History ◽  
Primary Hyperparathyroidism ◽  
Serum Calcitonin ◽  
Medullary Thyroid ◽  
Bilateral Pheochromocytoma ◽  
Patient Reported ◽  
History Of ◽  
Men 2A

Abstract Introduction: MEN 2A is an autosomal dominant hereditary syndrome considered part of the medullary thyroid carcinoma (MTC) syndromes. This is characterized by MTC, pheochromocytoma, and parathyroid hyperplasia or adenomas causing primary hyperparathyroidism (PHPT). Clinical Case: A 34 year old female was referred to our clinic for multi-nodular goiter diagnosed during routine gynecologic evaluation. A thyroid ultrasound revealed a heterogeneous right thyroid lobe with a hypoechoic 2.5 cm nodule, associated macro calcifications and increased vascularity; and a left nodule measuring 2.3 cm with the same characteristics. Bilateral thyroid nodule biopsies were performed, resulting in MTC confirmed by positive calcitonin staining. Pre-operative studies revealed serum calcitonin and carcinoembryonic antigen (CEA), both of which are considered serologic markers of MTC activity, at 4,340 pg/ml (n &lt;= 5) and 276.2 ng/mL (n &lt;= 2.5 in non-smokers) respectively. The patient reported father with history of unspecified thyroid cancer, and paternal uncle with history of pheochromocytoma with a p.Cys634Trp mutation in RET proto-oncogene. Due to her family history, pre-operative screening for primary hyperparathyroidism (PHPT) resulted in a calcium 10 mg/dL (n 8.6-10.2), PTH 34 pg/mL (n 14-64). Additionally, screening for pheocromocytoma revealed an elevated 24 hour urine metanephrines of 2,276 (n &lt;= 49-290) ug/24h, plasma metanephrines, including fractionated metanephrine (MN) at 163 (n &lt;= 57) pg/ml, fractionated nor-metanephrine (NMN) at 182 (n &lt;= 148) pg/ml, and total, Free (MN+NMN) metanephrines at 345 (n &lt;= 205) pg/ml. CT abdomen revealed bilateral adrenal nodules, right measuring 1.4 x 3.3 cm and left 2.4 x 3.3 cm. The patient underwent posterior retroperitoneoscopic adrenalectomy with cortex sparing prior to thyroidectomy. Adrenal pathology resulted in bilateral pheochromocytoma with peri-adrenal adipose tissue microscopic involvement, and positive synaptophysin and S-100 stain. Subsequently, she underwent total thyroidectomy with extensive cervical lymph node resection, with pathology resulting in MTC with lymph node metastasis, involving 5/18 cervical lymph nodes. Post-operative labs revealed serum calcitonin &lt;= 2 pg/ml, CEA 26.8 ng/mL, MN &lt; 25 pg/ml, NMN 102 pg/ml, and MN+NMN of 102 pg/ml, which suggested initial surgical success. Post-operative genetic test evaluation revealed abnormal RET oncogene testing compatible with MEN 2A, variant 1: c.1902C&gt;G (p.Cys634Trp). Conclusion: This case illustrates that patients presenting with MTC and reporting family history of thyroid cancer should be screened for familial MTC syndrome. Patients with RET mutation should be screened for pheochromocytoma prior to surgery for MTC to prevent life-threatening hypertensive crisis.

scholarly journals MACULAR DETACHMENT IN MORNING GLORY SYNDROME

2021 ◽  
Vol Volume 2 (Spring,2021) ◽  
pp. 13-17
Author(s):  
Ayan Mammadkhanova
Keyword(s):  
Optic Nerve ◽  
Visual Field ◽  
Morning Glory ◽  
Macular Detachment ◽  
Morning Glory Syndrome ◽  
History Of ◽  
Ophthalmologic Examination

Purpose:Thepurposeofthisstudyistoreportauniquecaseofmorning glorysyndrome.Methods: This study included ophthalmologic examination, opticalcoherencetomography and areviewoftherelevantliterature.Result: A 7-year-old girl with a history of morning glory syndromewas periodicallyexamined in ourclinic for5 years. Suddenly,shepresentedwiththecomplaintofdecreasedvision.Examinationsrevealed macular detachment. The visual field of the affected eye wassignificantly narrowed. OCT also revealed the presence of a fibrouscord in the centreof the optic nerve, which protruded into the vitreousbody.Discussion:Morningglorysyndromeis anuncommoncongenitaldisordercharacterizedbyawidelyenlargedpapillathatispink-orangeincolour,witha small glial tuft in thecentre. The retinalvessels are arranged radially in relation to the papilla. A pigmentedring surrounds the excavation. The incidence is not well known. Theeffectisgenerallyunilateral.Thissyndromemanifestsasopticatrophy. However, the atrophy does not progress. Visual impairmentsometimes occurs when maculardetachmentarises,as occurred inourpatient.After5yearsofobservation,ourpatient’svisiondramatically worsened as a result of macular detachment. There arevarious theories for the development of macular detachment in MGS:exudative, tractionand rhegmatogenous8.Nobreakwasfound inourpatient,sothecauseofthedetachmentwasmostlikelytheinflammatoryprocess

scholarly journals Family History of Lung Disease Is Associated with Greater Severity of Patient-Reported Symptoms in COPD

2020 ◽  
Author(s):  
A. Schraufnagel ◽  
M. Griffith ◽  
R.A. Mularski ◽  
E.T. Naureckas ◽  
P.K. Lindenauer ◽  
...  
Keyword(s):  
Family History ◽  
Lung Disease ◽  
Patient Reported ◽  
History Of

Acquired Optic Nerve Diseases

Visual Fields ◽  
2010 ◽  
Author(s):  
Peter A. Quiros ◽  
Alfredo A. Sadun
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Optic Nerve ◽  
Visual Field ◽  
Optic Neuritis ◽  
Optic Neuropathy ◽  
Visual Loss ◽  
Mass Effect ◽  
Ischemic Optic Neuropathy ◽  
Optic Nerve Diseases

This chapter focuses on the most frequently acquired optic nerve diseases: their signs and symptoms, visual field findings, and the required basic workup and management. Acquired optic nerve diseases are often vision threatening and sometimes even life threatening. There is a need for accurate and timely diagnosis. Therefore, it is incumbent on the clinician to identify optic neuropathies, separate them from chronic congenital and hereditary problems, and aggressively pursue the diagnosis and treatment as necessary. In the workup of optic neuropathies, the visual field is extremely helpful. All patients with suspected optic neuropathies require careful examination of the visual fields for detection, characterization, and monitoring. Acquired optic neuropathies include inflammatory, ischemic, compressive, metabolic, and central nervous system–reflected pathology (papilledema). Inflammatory optic neuropathies include optic neuritis and its various etiologies such as demyelination, infective, immune-mediated (atypical), and slowly progressive/ chronic. Ischemic optic neuropathies include nonarteritic ischemic optic neuropathy (NAION) and arteritic ischemic optic neuropathy (AAION). Metabolic optic neuropathies include nutritional and/or toxic etiologies. Compressive optic neuropathies can occur due to mass effect on the disc optic, gliomas, and perioptic meningiomas. Papilledema may be primary (pseudotumor cerebri) or secondary to central nervous system mass effect. Optic neuritis is defined as a primary inflammation of the optic nerve. It is characterized by central visual loss that worsens over days and usually peaks about 1 to 2 weeks after the onset. It is usually unilateral but may be bilateral, especially in children, following viral infections like measles, mumps, and chickenpox. It occurs most commonly in adults (18-45 years old). Orbital or periocular pain may be present or precede the visual loss and is exacerbated with eye movements. Etiologies include demyelinating diseases/multiple sclerosis;, idiopathic, viral, or bacterial infections (syphilis); contiguous inflammation of the meninges, orbit, or sinuses,; granulomatous inflammation (tuberculosis, sarcoidosis, and cryptococosis); and autoimmune diseases. It is the most common cause of acute visual loss from optic nerve disease in the young and middle-aged adult group.

Tuberculoma of the Conus Medullaris: Case Report

Neurosurgery ◽  
2002 ◽  
Vol 50 (3) ◽  
pp. 651-653 ◽  
Author(s):  
Kudret Türeyen
Keyword(s):  
Histopathological Examination ◽  
Inflammatory Cells ◽  
Mass Effect ◽  
Giant Cells ◽  
Conus Medullaris ◽  
Antituberculosis Therapy ◽  
Patient Reported ◽  
History Of ◽  
Leg Weakness ◽  
Muscle Groups

Abstract OBJECTIVE AND IMPORTANCE: Intramedullary spinal tuberculoma is a rare form of central nervous system tuberculosis. This article describes an affected patient who presented with left leg paresis. CLINICAL PRESENTATION: A 46-year-old man presented with a 7-day history of left leg weakness. The patient's medical history included infection with pulmonary tuberculosis 15 years previously, at which time he had been treated with antituberculosis therapy. The neurological examination performed at admission revealed left leg paresis with Grade 2/5 power in all muscle groups. The patient reported no urinary or bowel problems. INTERVENTION: Surgery was performed with the patient in the prone position. The procedure involved laminectomies at T11, T12, and L1, followed by a midline myelotomy. The mass was excised completely. Histopathological examination revealed a granulomatous lesion that contained Langhans' giant cells, inflammatory cells, and evidence of caseating necrosis. The patient was prescribed a 6-month course of antituberculosis therapy with pyrazinamide, isoniazid, and rifampin. CONCLUSION: The outcome was favorable. Recently, a number of authors have reported success with medical management of intraspinal tuberculoma. Intraspinal tuberculoma produces a mass effect that can jeopardize spinal cord function. The optimal treatment is a combination of microsurgical resection and antituberculosis chemotherapy.

scholarly journals An Aggressive Sphenoid Wing Meningioma Causing Foster Kennedy Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Harpreet S. Walia ◽  
F. Lawson Grumbine ◽  
Gagan K. Sawhney ◽  
David S. Risner ◽  
Neal V. Palejwala ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Visual Loss ◽  
Optic Nerve Atrophy ◽  
Neurological Condition ◽  
Acute Visual Loss ◽  
History Of ◽  
Ophthalmologic Examination ◽  
Intracranial Neoplasm ◽  
Foster Kennedy Syndrome ◽  
Sphenoid Wing Meningioma

Foster Kennedy syndrome is a rare neurological condition with ophthalmic significance that can manifest as acute visual loss. It is classically characterised by unilateral optic nerve atrophy and contralateral papilledema resulting from an intracranial neoplasm. Physicians should consider Foster Kennedy syndrome in patients who present with visual loss and who have a history of intracranial neoplasm. In addition to ophthalmologic examination, neuroimaging is essential for the diagnosis of Foster Kennedy syndrome.

scholarly journals Drugs and life-threatening ventricular arrhythmia risk: results from the DARE study cohort

BMJ Open ◽  
2017 ◽  
Vol 7 (10) ◽  
pp. e016627 ◽  
Author(s):  
Abigail L Coughtrie ◽  
Elijah R Behr ◽  
Deborah Layton ◽  
Vanessa Marshall ◽  
A John Camm ◽  
...  
Keyword(s):  
Family History ◽  
Sudden Death ◽  
Polymorphic Ventricular Tachycardia ◽  
Study Cohort ◽  
Qtc Interval ◽  
Acute Ischaemia ◽  
Cardiovascular Comorbidity ◽  
Patient Reported ◽  
History Of ◽  
Multiple Drugs

ObjectivesTo establish a unique sample of proarrhythmia cases, determine the characteristics of cases and estimate the contribution of individual drugs to the incidence of proarrhythmia within these cases.SettingSuspected proarrhythmia cases were referred by cardiologists across England between 2003 and 2011. Information on demography, symptoms, prior medical and drug histories and data from hospital notes were collected.ParticipantsTwo expert cardiologists reviewed data for 293 referred cases: 130 were included. Inclusion criteria were new onset or exacerbation of pre-existing ventricular arrhythmias, QTc >500 ms, QTc >450 ms (men) or >470 ms (women) with cardiac syncope, all secondary to drug administration. Exclusion criteria were acute ischaemia and ischaemic polymorphic ventricular tachycardia at presentation, structural heart disease, consent withdrawn or deceased prior to study. Descriptive analysis of Caucasian cases (95% of included cases, n=124) and culpable drug exposures was performed.ResultsOf the 124 Caucasian cases, 95 (77%) were QTc interval prolongation-related; mean age was 62 years (SD 15), and 63% were female. Cardiovascular comorbidities included hypertension (53%) and patient-reported ‘heart rhythm problems’ (73%). Family history of sudden death (36%) and hypokalaemia at presentation (27%) were common. 165 culpable drug exposures were reported, including antiarrhythmics (42%), of which amiodarone and flecainide were the most common. Sotalol, a beta-blocking agent with antiarrhythmic activity, was also common (15%). 26% reported multiple drugs, of which 84% reported at least one cytochrome (CYP) P450 inhibitor. Potential pharmacodynamics interactions identified were mainly QT prolongation (59%).ConclusionsAntiarrhythmics, non-cardiac drugs and drug combinations were found to be culpable in a large cohort of 124 clinically validated proarrhythmia cases. Potential clinical factors that may warn the prescriber of potential proarrhythmia include older women, underlying cardiovascular comorbidity, family history of sudden death and hypokalaemia.

Sign in / Sign up

Export Citation Format

Share Document