Pheochromocytoma Masquerading as Weight Loss - a Diagnostic and Management Challenge

Abstract Introduction: Classic pheochromocytoma symptoms include headache, diaphoresis, palpitations and symptomatic pheochromocytomas are on average around 5cm. They respond to preoperative alpha blockade followed by surgery. We present a case of a giant 15.9cm pheochromocytoma with delayed presentation and diagnosis complicated by atypical symptoms of nausea, weight loss; preoperative preparation included a modified preparation of high-dose phenoxybenzamine but she underwent successful surgery. Case Description: A 62-year-old female with a history of hypertension and diabetes presented with nausea and 80 lbs weight loss over 18 months. CT scan revealed large centrally necrotic mass overlying the left kidney, measuring 15.9 x 12.7 x 14.7cm. Abdominal MRI showed claw sign; she was admitted to the urology service for tube feeding prior to resection of suspected renal cell carcinoma. Given the location of the mass and history of hypertension, plasma metanephrines, included in preoperative workup, were notable for: total metanephrines >40000 pg/ml (reference range <=205), normetanephrines >20000 pg/ml (reference range <=148), metanephrines 57 pg/ml (reference range <=57). Endocrine was consulted and she was started on phenoxybenzamine; she underwent volume replacement with fluids and salt tablets. Due to nausea and vomiting she was unable to reliably tolerate oral medication; BP management was challenging. Oral pill dosing was minimized. Metoprolol was converted to metoprolol SA and a phenoxybenzamine suspension that could be delivered through the feeding tube with good absorption was made. On the day prior to surgery, BP was 117/76 mmHg, supine HR 92 bpm, on a total daily dose of phenoxybenzamine 240mg, metoprolol SA 200mg and amlodipine 10mg. She underwent a radical left nephrectomy and adrenalectomy. Plasma metanephrines six weeks later were normal: total metanephrines 84 pg/ml, normetanephrines 84 pg/ml, metanephrines <25 pg/ml. Pathology showed benign pheochromocytoma. Conclusion: Giant pheochromocytomas present significant challenges for clinicians who must be aware of the potential for nonspecific symptoms which can delay diagnosis. Paroxysmal hypertension happens in only about 50% of pheochromocytoma patients; primary hypertension is often diagnosed, as had been the case with our patient. Additionally, initial imaging related to atypical presenting symptoms may not lead to the specific diagnosis, as in our patient; metanephrine screening revealed the correct diagnosis. Regarding management, preoperative alpha blockade dosage and delivery should be tailored to individual patient needs, with adjustment as needed and alternative preparations considered to optimally control BP and reduce risk of death and other perioperative complications. Our case highlights the diagnostic and management challenge of patients presenting with giant pheochromocytomas.

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Mitochondrial disease: an uncommon but important cause of diabetes mellitus

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-18-0091 ◽

2018 ◽

Vol 2018 ◽

Cited By ~ 2

Author(s):

Ming Li Yee ◽

Rosemary Wong ◽

Mineesh Datta ◽

Timothy Nicholas Fazio ◽

Mina Mohammad Ebrahim ◽

...

Keyword(s):

Diabetes Mellitus ◽

Weight Loss ◽

Lactic Acidosis ◽

Superior Mesenteric Artery ◽

Mesenteric Artery ◽

Mitochondrial Disorder ◽

Superior Mesenteric Artery Syndrome ◽

List Type ◽

Presenting Symptoms ◽

History Of

Summary Mitochondrial diseases are rare, heterogeneous conditions affecting organs dependent on high aerobic metabolism. Presenting symptoms and signs vary depending on the mutation and mutant protein load. Diabetes mellitus is the most common endocrinopathy, and recognition of these patients is important due to its impact on management and screening of family members. In particular, glycemic management differs in these patients: the use of metformin is avoided because of the risk of lactic acidosis. We describe a patient who presented with gradual weight loss and an acute presentation of hyperglycemia complicated by the superior mesenteric artery syndrome. His maternal history of diabetes and deafness and a personal history of hearing impairment led to the diagnosis of a mitochondrial disorder. Learning points: The constellation of diabetes, multi-organ involvement and maternal inheritance should prompt consideration of a mitochondrial disorder. Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS) and maternally inherited diabetes and deafness (MIDD) are the most common mitochondrial diabetes disorders caused by a mutation in m.3243A>G in 80% of cases. Metformin should be avoided due to the risk of lactic acidosis. There is more rapid progression to insulin therapy and higher prevalence of diabetic complications compared to type 2 diabetes. Diagnosis of a mitochondrial disorder leads to family screening, education and surveillance for future complications. Superior mesenteric artery syndrome, an uncommon but important cause of intestinal pseudo-obstruction in cases of significant weight loss, has been reported in MELAS patients.

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Indolent T-cell lymphoproliferative disorder of the gastrointestinal tract managed conservatively with corticosteroids

McMaster University Medical Journal ◽

10.15173/mumj.v17i1.2298 ◽

2020 ◽

Vol 17 (1) ◽

Author(s):

Tyler McKechnie ◽

Haroon Yousuf ◽

Stephen Somerton

Keyword(s):

Computed Tomography ◽

Weight Loss ◽

Abdominal Pain ◽

Gastrointestinal Tract ◽

T Cell ◽

Complete Resolution ◽

Lymphoproliferative Disorder ◽

Duodenal Biopsy ◽

High Dose ◽

History Of

An 82-year-old female presented with a 4-week history of abdominal pain, weight loss, diarrhea, and nausea. A complete infectious workup was negative. Her computed tomography (CT) scan showed no pathologic changes and her esophagogastroduodenoscopy (EGD) showed erosive damage in the duodenum. Her duodenal biopsy showed inflammation with a marked increase in intra-epithelial lymphocytes and her immunohistochemistry was consistent with indolent T-cell lymphoproliferative disorder of the gastrointestinal tract. She was started on high dose steroids three months after the onset of her symptoms. She gradually improved with complete resolution of erosive changes on her repeat EGD.

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Clinical characteristics, outcomes, and risk factors for mortality in hospitalized patients with COVID-19 and cancer history: a propensity score-matched study

Infectious Agents and Cancer ◽

10.1186/s13027-020-00339-y ◽

2020 ◽

Vol 15 (1) ◽

Author(s):

Majid Sorouri ◽

Amir Kasaeian ◽

Helia Mojtabavi ◽

Amir Reza Radmard ◽

Shadi Kolahdoozan ◽

...

Keyword(s):

Mortality Rate ◽

Solid Tumors ◽

Survival Prediction ◽

Female Ratio ◽

Presenting Symptoms ◽

Risk Of Death ◽

Cancer Group ◽

Increased Risk ◽

History Of ◽

History Of Cancer

Abstract Background COVID-19 has caused great concern for patients with underlying medical conditions. We aimed to determine the prognosis of patients with current or previous cancer with either a PCR-confirmed COVID-19 infection or a probable diagnosis according to chest CT scan. Methods We conducted a case control study in a referral hospital on confirmed COVID-19 adult patients with and without a history of cancer from February25th to April21st, 2020. Patients were matched according to age, gender, and underlying diseases including ischemic heart disease (IHD), diabetes mellitus (DM), and hypertension (HTN). Demographic features, clinical data, comorbidities, symptoms, vital signs, laboratory findings, and chest computed tomography (CT) images have been extracted from patients’ medical records. Multivariable logistic regression was used to estimate odd ratios and 95% confidence intervals of each factor of interest with outcomes. Results Fifty-three confirmed COVID-19 patients with history of cancer were recruited and compared with 106 non-cancerous COVID-19 patients as controls. Male to female ratio was 1.33 and 45% were older than 65. Dyspnea and fever were the most common presenting symptoms in our population with 57.86 and 52.83% respectively. Moreover, dyspnea was significantly associated with an increased rate of mortality in the cancer subgroup (p = 0.013). Twenty-six patients (49%) survived among the cancer group while 89 patients (84%) survived in control (p = 0.000). in cancer group, patients with hematologic cancer had 63% mortality while patients with solid tumors had 37%. multivariate analysis model for survival prediction showed that history of cancer, impaired consciousness level, tachypnea, tachycardia, leukocytosis and thrombocytopenia were associated with an increased risk of death. Conclusion In our study, cancer increased the mortality rate and hospital stay of COVID-19 patients and this effect remains significant after adjustment of confounders. Compared to solid tumors, hematologic malignancies have been associated with worse consequences and higher mortality rate. Clinical and para-clinical indicators were not appropriate to predict death in these patients.

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378. E-cigarette or Vaping Associated Lung Injury in the Time of COVID-19

Open Forum Infectious Diseases ◽

10.1093/ofid/ofaa439.573 ◽

2020 ◽

Vol 7 (Supplement_1) ◽

pp. S258-S259

Author(s):

Rachel D Downey ◽

Donald Murphey ◽

Marisol Fernandez ◽

Julia Sapozhnikov ◽

Sarmistha Bhaduri Hauger

Keyword(s):

Weight Loss ◽

Lung Injury ◽

Pediatric Patients ◽

Single Case ◽

Steroid Treatment ◽

Urine Drug Screen ◽

Laboratory Findings ◽

Lipoid Pneumonia ◽

Presenting Symptoms ◽

History Of

Abstract Background Pediatric providers have been caring for two new and similar respiratory illnesses: E-cigarette or vaping use associated lung injury (EVALI) beginning in 2019 and Coronavirus Disease 19 (COVID-19) in 2020. Similarities include prodrome, presentation, imaging, and laboratory testing. While EVALI often improves with steroid treatment, steroids can be detrimental early in the course of COVID-19. Although a positive SARS CoV-2 polymerase chain reaction (PCR) test is helpful, this result does not definitively identify SARS CoV-2 as the primary cause of symptoms in patients with a history of vaping, as both processes may be coexistent. Coinfection with other infectious agents is commonly found in children with COVID-19 infection, and the majority of children with PCR positive SARS CoV-2 are asymptomatic or mildly symptomatic. Methods In hopes of better defining EVALI versus COVID-19 clinical syndromes, we reviewed charts of pediatric patients admitted to a freestanding children’s hospital in Texas diagnosed with EVALI over a year period from June 1, 2019 and June 1, 2020. Cases were identified through a local patient registry. We compared findings in these cases with literature regarding pediatric patients with acute COVID-19 and EVALI. Variables included presenting symptoms, timing of symptoms, vital signs, imaging, and laboratory results. Results Twelve patients with EVALI diagnosis were included. Clinical presentation, imaging, and laboratory findings were similar to those described with acute COVID-19 and are included in figures 1 and 2. Repeated interviewing regarding vaping revealed a history of vaping in all EVALI cases; frequency reported varied from multiple times daily to remote use. Some cases with EVALI also had a significant psychiatric history, positive urine drug screen, or significant weight loss prior to hospitalization. Cases with EVALI and steroid treatment improved within days of treatment. In a review of literature, BAL sampling often reveals lipoid pneumonia in EVALI cases, which would not be expected in COVID-19. Of note, the single case in our group tested did not have lipoid pneumonia on bronchoalveolar lavage (BAL) cytology. Conclusion Presence of prolonged preceding weight loss, or BAL cytology could help differentiate these clinical states. Disclosures All Authors: No reported disclosures

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Granulomatosis polyangiitis

BMJ Case Reports ◽

10.1136/bcr-2018-228693 ◽

2019 ◽

Vol 12 (7) ◽

pp. e228693

Author(s):

Mustafa Sowida

Keyword(s):

Weight Loss ◽

Pulmonary Nodules ◽

Mediastinal Lymphadenopathy ◽

Lung Nodules ◽

High Dose ◽

Proteinase 3 ◽

Oral Medicine ◽

Intravenous Methylprednisolone ◽

Unexplained Weight Loss ◽

History Of

A 22-year-old female patient was admitted to hospital after being referred from the oral medicine clinic where she had been seen for persistent gingivitis and mouth ulcers. She described an insidious history of persistent fevers, dry cough and unexplained weight loss over 4–6 weeks. Imaging showed extensive bilateral pulmonary nodules with mediastinal lymphadenopathy and two lesions in the pancreas. MRI revealed these lesions to be well-defined fluid-filled cysts in the tail of the pancreas, without features of malignancy. Core biopsies taken from her lung nodules demonstrated features of vasculitis with granulomata. This was consistent with her positive immunology for c-antinuclear cytoplasmic antibodies and proteinase-3, which were sent after her fever failed to settle with antibiotic treatment. In keeping with a diagnosis of vasculitis, the patient showed a significant clinical and biochemical response to intravenous methylprednisolone and high-dose daily prednisolone thereafter.

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Cerebellar Infarction and Factors Associated with Delayed Presentation and Misdiagnosis

Cerebrovascular Diseases ◽

10.1159/000448899 ◽

2016 ◽

Vol 42 (5-6) ◽

pp. 476-484 ◽

Cited By ~ 4

Author(s):

Zeljka Calic ◽

Cecilia Cappelen-Smith ◽

Craig S. Anderson ◽

Wei Xuan ◽

Dennis J. Cordato

Keyword(s):

Acute Stroke ◽

Prior History ◽

Cerebellar Infarction ◽

Delayed Presentation ◽

Vascular Territory ◽

Tertiary Referral Hospital ◽

Early Presentation ◽

Presenting Symptoms ◽

Neurological Signs ◽

History Of

Background and Purpose: The diagnosis of cerebellar infarction (CBI) is often challenging due to non-specific or subtle presenting symptoms and signs. We aimed to determine whether a common syndromic cluster of symptoms, signs or vascular risk factors were associated with delayed presentation or misdiagnosis to an Emergency Department (ED). The degree of misdiagnosis between ED and neurology physicians and the influence of delayed presentation or misdiagnosis on outcome were also investigated. Methods: A prospective study of CBI patients at a large tertiary-referral hospital with a comprehensive stroke service. Data are reported with OR and 95% CIs. Results: Of 115 consecutive CBI patients (mean age ± SD 66 ± 14 years, 51% male), infarction was isolated to the cerebellum in 46%; the remainder had additional vascular territory involvement (‘mixed CBI'). Most patients (n = 79, 69%) had a mild stroke (National Institute of Health Stroke Scale score ≤4), and tended to present late to ED (>4.5 h; p = 0.05). Dysarthria (OR 3.9, 95% CI 1.6-9.6, p = 0.003) and prior history of atrial fibrillation (AF; OR 3.0, 95% CI 1.02-9.1, p = 0.047) predicted early presentation (<4.5 h; in 52%). Neurological signs (as determined by neurology physicians) were more commonly absent in patients with isolated CBI (OR 4.0, 95% CI 1.2-13.3, p = 0.03) who were also less likely to receive acute stroke therapy (p = 0.03). ED physicians detected fewer neurological signs than neurology physicians (mean 1 vs. 2 signs, p < 0.001), and 34% of CBI patients were misdiagnosed, with peripheral vestibulopathy being the most common alternative diagnosis. Nausea and vomiting (OR 2.3, 95% CI 1.01-5.5, p = 0.046), absence of neurological signs as determined by ED physicians (OR 3.5, 95% CI 1.5-8.0, p = 0.003) and isolated CBI (OR 2.2, 95% CI 1.01-4.8, p = 0.047) correlated with misdiagnosis. Vascular territory involvement did not correlate with time to presentation or misdiagnosis. At 3 months, 65% of patients were functionally independent (modified Rankin Scale (mRS) score 0-2). History of hypertension (p = 0.008), AF (p = 0.012), mixed CBI (p = 0.004) and in-hospital stroke-related complications (p < 0.001) were associated with patients having a poor outcome (mRS ≥3). At 3 months, mortality was 16%, and AF was the only predictor of death (OR 3.2, 95% CI 1.1-8.9, p = 0.03). Late presentation to ED and misdiagnosis did not significantly influence 3-month functional outcome. Conclusions: Late ED presentation and misdiagnosis are common for CBI. Timely diagnosis of CBI may increase opportunity for acute stroke therapies and reduce risk of stroke-related complications.

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Does Voiding Cystourethrogram Exclude Posterior Urethral Valves in Late Presenting Cases?

European Journal of Pediatric Surgery ◽

10.1055/s-0038-1672146 ◽

2018 ◽

Vol 29 (01) ◽

pp. 085-089 ◽

Cited By ~ 5

Author(s):

Mehmet Özen ◽

Mehmet Taşdemir ◽

Gökhan Gündoğdu ◽

Ilmay Bilge ◽

Cenk Büyükünal ◽

...

Keyword(s):

Urinary Infection ◽

Rare Condition ◽

Posterior Urethral Valves ◽

Voiding Cystourethrogram ◽

Delayed Presentation ◽

Urethral Valves ◽

Presenting Symptoms ◽

Classical Sign ◽

History Of ◽

Dimercaptosuccinic Acid Scintigraphy

Introduction Delayed presentation of posterior urethral valves (PUVs) is a rare condition. Presentation and diagnosis of the patients with late PUVs are challenging. Voiding cystourethrogram (VCUG) is mainly practiced. In this study, we aimed to evaluate the children with late-presented PUVs, and the reliability of VCUG in this group. Materials and Methods Between January 2003 and December 2017 records of patients who were diagnosed with late-presented PUVs were analyzed. Delayed presentation of PUV was defined as patients who were diagnosed and treated after infancy. Cases were examined in terms of age at diagnosis, presenting symptoms, urinalysis, urinary ultrasound, urodynamic studies, VCUG, and dimercaptosuccinic acid scintigraphy findings. Postoperative follow-up conditions were also assessed. Results Seventeen boys were diagnosed with late-presented PUVs (mean age was 7.35 years). The most common symptoms at presentation were frequency (58.8%), day and nighttime incontinence (47%), and febrile urinary infection (41%). PUV was noted by VCUG in 10 patients alone. The classical sign of dilated posterior urethra was detected in 9 patients. The 10th patient had posterior urethral irregularity. Urethra could not be evaluated due to unsuccessful voiding in one patient. Six patients had normally appearing urethra on VCUG. Reflux was detected in nine (52.9%) patients. Conclusion Late-presented PUVs may be missed on VCUG. Whether a PUV might be present is crucial in boys with a history of recurrent urinary infection, persistent reflux, and repetitive daytime incontinence. Based on our results, we conclude that cystoscopic examination should be preferred for those cases to diagnose PUVs regardless of VCUG results.

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ITI with high-dose FIX and combined immunosuppressive therapy in a patient with severe haemophilia B and inhibitor

Hämostaseologie ◽

10.1055/s-0037-1617018 ◽

2009 ◽

Vol 29 (02) ◽

pp. 155-157 ◽

Cited By ~ 22

Author(s):

H. Hauch ◽

J. Rischewski ◽

U. Kordes ◽

J. Schneppenheim ◽

R. Schneppenheim ◽

...

Keyword(s):

Nephrotic Syndrome ◽

Immunosuppressive Agents ◽

Tolerance Induction ◽

Intravenous Immunoglobulins ◽

Factor Ix ◽

High Dose ◽

Allergic Reactions ◽

Success Rates ◽

Serious Infections ◽

History Of

SummaryInhibitor development is a rare but serious event in hemophilia B patients. Management is hampered by the frequent occurrence of allergic reactions to factor IX, low success rates of current inhibitor elimination protocols and the risk of development of nephrotic syndrome. Single cases of immune tolerance induction (ITI) including immunosuppressive agents like mycophenolat mofetil (MMF) or rituximab have been reported. We present a case of successful inhibitor elimination with a combined immune-modulating therapy and high-dose factor IX (FIX). This boy had developed a FIX inhibitor at the age of 5 years and had a history of allergic reactions to FIX and to FEIBA→. Under on-demand treatment with recombinant activated FVII the inhibitor became undetectable but the boy suffered from multiple joint and muscle bleeds. At the age of 11.5 years ITI was attempted with a combination of rituximab, MMF, dexamethasone, intravenous immunoglobulins and high-dose FIX. The inhibitor did not reappear and FIX half-life normalized. No allergic reaction, no signs of nephrotic syndrome and no serious infections were observed.

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2016-P: High Dose DACRA Treatment Improves Glucose Homeostasis, without Additional Weight Loss

Diabetes ◽

10.2337/db19-2016-p ◽

2019 ◽

Vol 68 (Supplement 1) ◽

pp. 2016-P

Author(s):

NINA SONNE ◽

ANNA T. LARSEN ◽

KIM V. ANDREASSEN ◽

MORTEN ASSER KARSDAL ◽

KIM HENRIKSEN

Keyword(s):

Weight Loss ◽

Glucose Homeostasis ◽

High Dose ◽

Additional Weight

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A Case Report on Glanzmann’s Thrombasthenia: A Rare Platelet Function Disorder

Haematology Journal of Bangladesh ◽

10.37545/haematoljbd201818 ◽

2018 ◽

Vol 2 (02) ◽

pp. 59-60

Author(s):

Farida Yasmin ◽

Md. Anwarul Karim ◽

Chowdhury Yakub Jamal ◽

Mamtaz Begum ◽

Ferdousi Begum

Keyword(s):

Case Report ◽

Platelet Function ◽

The Body ◽

Presenting Symptoms ◽

Glanzmann’S Thrombasthenia ◽

Glanzmann's Thrombasthenia ◽

Platelet Function Disorders ◽

Recurrent Epistaxis ◽

Severe Epistaxis ◽

History Of

Epistaxis in children is one of the important presenting symptoms for attending emergency department in paediatric patients. Recurrent epistaxis is common in children. Although epistaxis in children usually occurred due to different benign conditions, it may be one of the important presenting symptoms of some inherited bleeding disorder. Whereas most bleeding disorders can be diagnosed through different standard hematologic assessments, diagnosing rare platelet function disorders may be challenging. In this article we describe one case report of platelet function disorders on Glanzmann’s thrombasthenia (GT). Our patient was a 10-year old girl who presented to us with history of recurrent severe epistaxis. She had a bruise on her abdomen and many scattered petechiae in different parts of the body. Her previous investigations revealed no demonstrable haemostatic anomalies. After performing platelet aggregation test, she was diagnosed as GT.

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