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1.  Metastatic B-cell lymphoma masquerading as infectious retinitis and vasculitis 
Oncology Letters  2012;3(6):1245-1248.
Intraocular lymphoma is a rare ocular malignancy that may occur in the retina or the uvea. Retina or vitreoretinal lymphoma accounts for the majority of cases and is often secondary to diffuse large B-cell lymphoma. In the present study, a 66-year-old Caucasian male with a history of Waldenstrom’s macroglobulinemia with diffuse large B-cell lymphoma, presented with blurred vision in the left eye one month following cycle 4 of an R-CHOP regimen. At the time of onset, the patient was being treated for bacterial pneumonia. Visual acuity was 20/25 in his right eye (OD) and 20/30 in the left (OS). Ophthalmologic examination showed intraretinal white infiltrates associated with hemorrhage in the superotemporal midperiphery of the retina and vitritis OS. Initial diagnostic considerations included infectious (cytomegalovirus retinitis, syphilis, toxoplasmosis, tuberculosis), inflammatory (retinal vasculitis associated with autoimmune disease or hypercoagulable states) or malignant (intraocular lymphoma) diseases. The patient did not respond to intravitreal injection of foscarnet and oral valgancyclovir. Systemic work-up and aqueous fluid biopsy were inconclusive. Diagnostic vitrectomy yielded inconclusive results and the patient continued to have progressive loss of vision. A repeat diagnostic vitrectomy with retinal and subretinal biopsy confirmed large B cells consistent with metastatic B-cell lymphoma. A concomitant PET/CT scan was performed that revealed bilateral new pulmonary nodules resulting in additional chemotherapy. Our case shows the diagnostic dilemmas in patients with systemic lymphoma and the possible role of concurrent systemic restaging in patients with ocular complaints, even when in systemic remission.
doi:10.3892/ol.2012.659
PMCID: PMC3392561  PMID: 22783426
B-cell lymphoma; metastasis; uveitis; vasculitis; vitreoretinal lymphoma; vitrectomy
2.  Salicylate intolerance: a masquerader of multiple adverse drug reactions 
BMJ Case Reports  2009;2009:bcr02.2009.1602.
A female in her early 50s presented with a long-standing history of episodic urticaria and angioedema. She also reported urticarial reactions after ingestion of aspirin, prednisone and multiple antibiotics. These medications were all taken during upper respiratory tract infections. An elimination diet followed by a series of open challenges to food chemicals demonstrated an urticarial eruption following the ingestion of mints, which contain high levels of salicylates. A double-blinded placebo-controlled challenge to salicylate confirmed her sensitivity and explained her reaction to aspirin. The patient informed her treating physician of her copious ingestion of mints during upper respiratory tract infections. Drug hypersensitivity to antibiotics and prednisone was excluded on the basis of negative radioallergosorbent tests (RASTs) and/or absent skin-test responses and/or tolerance to oral challenges. This patient had a salicylate intolerance that caused her episodic urticaria and angioedema, and also masqueraded as a drug allergy due to the concurrent ingestion of mints.
doi:10.1136/bcr.02.2009.1602
PMCID: PMC3027804  PMID: 21918670
3.  Hepatosplenic alpha/beta T-cell lymphoma masquerading as cirrhosis 
A 59-year-old man with diabetes mellitus, prior hepatitis B infection and recently diagnosed cirrhosis with prior Babesiosis presented to our institution from an outside hospital with six months of worsening abdominal pain, myalgias and fevers. On admission, physical examination revealed jaundice, hepatosplenomegaly and diffuse lymphadenopathy. Laboratory investigations demonstrated mild anemia, thrombocytopenia, hyperbilirubinemia and elevated lactate dehydrogenase. Tests for human immunodeficiency virus, and active Babesia microti infection were negative, however Epstein-Barr virus DNA by quantitative PCR was markedly elevated. CT scan revealed features suggestive of a cirrhotic liver without focal mass lesions as well as massive splenomegaly with axillary, retroperitoneal and inguinal lymphadenopathy. Bone marrow and lymph node biopsies were obtained which ultimately revealed hepatosplenic T-cell lymphoma. The patient’s initial liver biopsy from five months prior to presentation was re-evaluated by our institution’s pathologists. Histologic analysis showed hepatic sinusoidal and portal infiltration of atypical lymphocytes morphologically identical to those present on the more recently excised lymph node tissue. The hepatic sinusoidal lymphoid cells were strongly positive for CD2, CD3 and CD5 whereas CD4, CD8 stained only minor subsets of the T cells. Subsequent flow cytometric immunophenotypying of peripheral blood identified T-cell receptor alpha/beta positive cells that lacked CD4 and CD8 (double negative alpha/beta T cells). Given the established bone marrow involvement, he was diagnosed with stage IV disease and treated with chemotherapy. His clinical course involved multiple hospitalizations complicated by hyponatremia, neutropenic fevers and pulmonary emboli. Following his fourth cycle of chemotherapy, he developed worsening liver failure and expired approximately three months after initial diagnosis of lymphoma. Hepatosplenic lymphoma of alpha/beta T cells is a rare malignancy with largely unclear risk factors and varied clinical presentations. Notably, diffuse infiltration of liver parenchyma is a prominent feature and the disease can mimic cirrhosis clinically as well as radiographically. Early recognition of this aggressive lymphoma is important and should be considered in the evaluation of patients in whom the etiology of cirrhosis remains in question.
doi:10.3978/j.issn.2078-6891.2013.017
PMCID: PMC3635184  PMID: 23730508
Liver cirrhosis; T-cell lymphoma; autoimmune hepatitis; Babesia microti
4.  Masquerades of Cluster Headache 
Many cluster headache (CH) patients waited several years to be accurately diagnosed because their symptoms are often mistaken for sinusitis or a dental disorder.1 Patients have also been mistakenly diagnosed as analgesic drug abusers or suffering from a psychiatric illness. This case report illustrates how a young lady was diagnosed to have cluster headache after several years of consultations with ophthalmologists for eye swelling and redness. It also highlights the importance of pain assessment and a general and holistic approach to medical care which is the main distinguishing feature of Family Medicine.
PMCID: PMC4267041  PMID: 25606163
5.  Cutaneous Metastasis of Medullary Carcinoma Thyroid Masquerading as Subcutaneous Nodules Anterior Chest and Mandibular Region 
Cutaneous metastasis of underlying primary malignancies can present to dermatologist with chief complaints of cutaneous lesions. The underlying malignancy is generally diagnosed much later after a complete assessment of the concerned case. Medullary carcinoma thyroid (MCT) is a relatively uncommon primary neoplasia of the thyroid. Very few cases presenting as cutaneous metastases of MCT have been reported in the literature. Most of the cases which have been reported are of the papillary and the follicular types. We here report a case of a patient who presented in the dermatology clinic with the primary complaint of multiple subcutaneous nodules in anterior chest wall and left side of body of mandible. By systematic application of clinical and diagnostic skills these nodules were diagnosed as cutaneous metastasis of MCT bringing to the forefront a history of previously operated thyroid neoplasm. So clinically, the investigation of a flesh coloured subcutaneous nodule, presenting with a short duration, particularly in scalp, jaw, or anterior chest wall should include possibility of metastastic deposits. A dermatologist should keep a possibility of an internal organ malignancy in patients while investigating a case of flesh coloured subcutaneous nodules, presenting with short duration. A systematic application of clinical and diagnostic skills will eventually lead to such a diagnosis even when not suspected clinically at its primary presentation. A prompt and an emphatic diagnosis and treatment will have its bearing on the eventual outcome in all these patients.
doi:10.1155/2014/805205
PMCID: PMC4244938  PMID: 25478248
6.  Adult-Onset Still's Disease Masquerading as Sepsis in an Asplenic Active Duty Soldier 
Case Reports in Medicine  2012;2012:349521.
This is a case of a 26-year-old active duty male with a history of idiopathic thrombocytopenic purpura (ITP) and surgical asplenia who presented with a one-week history of fevers, myalgias, arthralgias, and rigors. His evaluation upon presentation was significant for a temperature of 103 degrees F, white blood cell count of 36 K with a granulocytic predominance, and elevated transaminases. He was treated empirically with broad-spectrum antibiotics with concern for a systemic infection with an encapsulated organism. During his stay, he developed four SIRS criteria and was transferred to the progressive care unit for suspected sepsis. He continued to have twice-daily fevers and a faint, salmon-colored centripetal rash was eventually observed during his febrile episodes. After a nondiagnostic microbiologic and serologic workup, he was diagnosed with adult-onset Still's Disease and started on intravenous methylprednisolone with brisk response. He was discharged on oral prednisone and was started on anakinra. Adult-onset Still's disease is a rare condition that presents with varying severity, and this is the first reported case, to our knowledge, of its diagnosis in an asplenic patient. Its management in the setting of asplenia is complicated by the need for antibiotic therapy with each episode of fever.
doi:10.1155/2012/349521
PMCID: PMC3522482  PMID: 23251171
7.  Extramedullary plasmacytoma masquerading as Tolosa–Hunt syndrome: a case report 
BMJ Case Reports  2009;2009:bcr08.2008.0804.
Painful ophthalmoplegia due to extramedullary plasmacytoma is a rare initial manifestation of multiple myeloma. The present report describes a 48-year-old man who suffered an acute onset of retro-orbital pain, left abducens palsy and left facial hypoesthesia. In addition, he exhibited an elevated erythrocyte sedimentation rate and partial responsiveness to corticosteroid treatment, all of which resemble the features of Tolosa–Hunt syndrome. Imaging studies revealed a multilobulated tumour invading the left sphenoid bone and sphenoid sinus, later confirmed as a plasmacytoma at pathology. Multiple myeloma was also diagnosed by bone marrow examination. After completion of chemotherapy and radiotherapy, the patient has been free of symptoms for 10 months. Although cranial neuropathies with any combination of oculomotor, abducens, trochlear, ophthalmic and maxillary nerves may indicate a cavernous sinus lesion, neuropathies exclusive to the abducens and maxillary nerves may raise the possibility of extracavernous sinus origin. Cranial imaging is crucial in diagnosing painful ophthalmoplegia with additional minimal cranial nerve signs.
doi:10.1136/bcr.08.2008.0804
PMCID: PMC3029032  PMID: 21686622
8.  Central Diabetes Insipidus Masquerading as Benign Prostatic Hyperplasia in a Native Hawaiian 
Introduction:
Central diabetes insipidus (DI) develops when production or release of antidiuretic hormone is disrupted. A large number of cases are idiopathic with the vast majority of all remaining adult cases a result of primary or secondary hypothalmic tumor, infiltrative disease, neurosurgery, or trauma. Pituitary adenoma is not typically a cause of central diabetes insipidus. We present a case of previously undiagnosed pituitary macroadenoma resulting in central diabetes insipidus that presented critically after months of polyuria and nocturia that had previously been attributed to benign prostatic hyperplasia.
Case Presentation:
A 67-year-old man with a history of hypertension and taking no medications initially presented to the Hilo Medical Center with headache, nausea, nocturia, and polyuria. He had had symptoms for a year and presented to the ED after acute worsening. He was hypotensive and tachycardic with an initial sodium of 145. He quickly became hemodynamically unstable, unresponsive to fluid resuscitation, and was admitted to the ICU, briefly requiring vasopressors for blood pressure support. He was noted to have large volume output of dilute urine and elevated serum sodium. An MRI demonstrated a concentric sellar mass, with lymphocytic hypophysitis as a resultant working diagnosis. He was transferred to TAMC for Neurosurgical evaluation and further management. He was started on corticosteroids but after no improvement a follow up MRI showed a 2.0 × 1.3 × 2.5 cm lobulated, heterogeneously enhancing mass seen centered within the sella with T2 hyperintensity concerning for necrosis. After stabilization the patient underwent a transspenoidal excision of the mass. Pathology was consistent with nonsecreting pituitary adenoma. He responded appropriately to treatment with PO and nasal desmopressin.
Discussion:
Central diabetes insipidus is frequently seen with tumors that involve the hypothalamus such as craniopharyngiomas. It is also frequently seen in metastatic spread of lung or breast cancer to the posterior pituitary or hypothalamus. However, tumors originating from the anterior pituitary very rarely cause DI. This led to a working diagnosis of lymphocytic hypophysitis in this patient but a lack of response to therapy with corticosteroids led to excision and final diagnosis of adenoma. There is also an interesting cultural twist to this case. The patient was working as a construction worker on the Big Island of Hawai‘i and noted that there was significant social pressure to avoid drinking water while at work. Several coworkers were in this patient's age range and had similar symptoms of frequent urination and nocturia and had been diagnosed with BPH. They managed their symptoms with decreased PO water intake at work and the patient felt pressure to do the same. As a result the patient had developed a significant ability to ignore his thirst response and this contributed to his not seeking medical care for his persistent symptoms before becoming very ill. The patient required coaching prior to discharge in order to adequately respond to his thirst response to achieve stable serum sodium levels with scheduled PO and intranasal desmopressin.
PMCID: PMC4175949
9.  Jervell and Lange-Nielson Syndrome masquerading as intractable epilepsy 
The long QT syndrome (LQTS) is a cause of syncope and sudden death. Jervell and Lange–Nielson syndrome (JLNS) is an uncommon form of LQTS, having autosomal recessive transmission, and is associated with congenital deafness. We report a case of JLNS in a child who presented to us with refractory epilepsy. The cardiac cause of seizures was suspected as the child was hypotensive and pulseless during the episode of seizures. The child was diagnosed as JLNS based on Schwartz diagnostic criteria for LQTS and congenital sensorineural deafness. The child responded well to β-blocker therapy. Antiepileptic drugs were stopped. The screening of family members with ECG revealed a QT interval more than required for diagnosis of LQTS but they were asymptomatic. All asymptomatic family members were also put on metoprolol. All of them showed great improvement with the reduction of the QT interval on ECG. The patient was doing well on immediate follow-up.
doi:10.4103/0972-2327.95003
PMCID: PMC3345596  PMID: 22566733
Long QT syndrome; Jervell and Lange–Nielsen syndrome; seizures
10.  Falciparum malaria masquerading as appendicitis 
BMJ Case Reports  2011;2011:bcr0120113742.
The incidence of falciparum malaria is very high in India. Falciparum malaria is a multiorgan disease which can present with extremely varied presentations. The severity of the disease and difficulty in its diagnosis require a keen sense of suspicion on the part of the treating physician to diagnose it. Here is an unusual case of falciparum malaria presenting as acute appendicitis. This case did not respond to artemether therapy and that also points towards drug resistance emerging in malaria. The child was operated upon and appendix was found to be inflamed. After a tumultuous postoperative course with symptoms suggestive of acute renal failure, a diagnosis of falciparum malaria was made and quinine started. Recovery was uneventful thereafter.
doi:10.1136/bcr.01.2011.3742
PMCID: PMC3063271  PMID: 22701067
11.  Photoletter to the editor: Squamous cell carcinoma associated with and masquerading as molluscum contagiosum 
Squamous cell carcinoma is a non-melanoma skin cancer with a significant risk of mortality if not diagnosed promptly. A high index of suspicion is required, since it may mimic many benign conditions. Molluscum contagiosum is an innocuous viral infection which can also mimic a wide variety of other conditions.
We report a case of squamous cell carcinoma on the anterior chest wall resembling a giant molluscum contagiosum, where the patient also had molluscum contagiosum at other sites. In addition, he developed herpes zoster of the left fifth thoracic dermatome. After surgical removal of the cancer, there was prompt subsidence of the molluscum contagiosum lesions without any specific treatment.
This report highlights the importance of early biopsy in the diagnosis of squamous cell carcinoma. As the patient had no other conditions or therapy that could account for the immunosuppression, we hypothesize that the occurrance of molluscum contagiosum and zoster along with the squamous cell carcinoma indicates possible immunosuppression due to the carcinoma, though no metastatic spread could be detected.
doi:10.3315/jdcr.2013.1152
PMCID: PMC3797020  PMID: 24133567
immunosuppression; skin cancer; squamous cell carcinoma; tumor; molluscum contagiosum
12.  Primary Non-Hodgkin’s Lymphoma of Penis Masquerading as a Non-Healing Ulcer in the Penile Shaft 
Nephro-urology Monthly  2013;5(3):840-842.
Primary malignant lymphoma of the male external genitalia is extremely rare and it is even rarer in the penis. Because of its rarity, the possibility of delay in diagnosis and mismanagement is always there. It can present as a nodule, non-healing ulcer, stricture urethra or periurethral abscess. We report a case presenting first a nodule and later on as a non-healing ulcer which was diagnosed by corporal biopsy and managed successfully with chemotherapy.
doi:10.5812/numonthly.6885
PMCID: PMC3830913  PMID: 24282797
Biopsy; Lymphoma; Ulcer; Penis
13.  Isolated pancreatic tuberculosis masquerading as pancreatic cancer 
Gastroenterology Report  2014;2(2):154-157.
Isolated pancreatic tuberculosis (TB) remains a rarity despite the high incidence of tuberculosis in many of the African and Asian countries. Presentation as discrete pancreatic mass often masquerades as pancreatic neoplasm and diagnosis may require histology. Extra-hepatic portal hypertension due to splenic vein thrombosis complicating pancreatic TB has been reported in the literature. We report here a case of isolated pancreatic TB with pancreatic head mass mimicking neoplasm with extra-hepatic portal hypertension. The possibility of TB should be considered in the list of differential diagnoses of pancreatic mass and an endoscopic, ultrasound-guided biopsy might help to clinch the diagnosis of this potentially curable disease.
doi:10.1093/gastro/gou017
PMCID: PMC4020127  PMID: 24759351
pancreatic tuberculosis; pancreatic cancer; endoscopic ultrasonography
14.  A case of congenital myopathy masquerading as paroxysmal dyskinesia 
Gastroesophageal reflux (GER) disease is a significant comorbidity of neuromuscular disorders. It may present as paroxysmal dyskinesia, an entity known as Sandifer syndrome. A 6-week-old neonate presented with very frequent paroxysms of generalized stiffening and opisthotonic posture since day 22 of life. These were initially diagnosed as seizures and he was started on multiple antiepileptics which did not show any response. After a normal video electroencephalogram (VEEG) was documented, possibility of dyskinesia was kept. However, when he did not respond to symptomatic therapy, Sandifer syndrome was thought of and GER scan was done, which revealed severe GER. After his symptoms got reduced to some extent, a detailed clinical examination revealed abnormal facies with flaccid quadriparesis. Muscle biopsy confirmed the diagnosis of a specific congenital myopathy. On antireflux measures, those episodic paroxysms reduced to some extent. Partial response to therapy in GER should prompt search for an underlying secondary etiology.
doi:10.4103/0972-2327.144034
PMCID: PMC4251021  PMID: 25506169
Congenital myopathy; gastroesophageal reflux; paroxysmal dyskinesia; Sandifer syndrome
15.  Hepatic hemangioma masquerading as a tumor originating from the stomach 
Oncology Letters  2015;9(3):1406-1408.
Hemangioma is the most common benign hepatic neoplasm. The majority of cases are asymptomatic and can be confirmed by imaging examinations, including enhanced computed tomography and magnetic resonance imaging. Exophytic growth is not common and pedunculated cases are extremely rare. The present study reports a case that was pre-operatively misdiagnosed as a stomach-originating tumor. Laparoscopic exploration confirmed that this tumor was a hepatic hemangioma with a long peduncle originating from the left edge of the liver. The final diagnosis of cavernous hemangioma was confirmed by postoperative pathology. This indicates that hepatic hemangioma with a long peduncle has the possibility to be inaccurately diagnosed. Laparoscopic examination is required for such cases.
doi:10.3892/ol.2015.2863
PMCID: PMC4315127  PMID: 25663921
hemangioma; liver tumor
16.  Tracheal adenoid cystic carcinoma masquerading asthma: A case report 
Background
Tracheal tumors are often misdiagnosed as asthma and are treated with inhaled steroids and bronchodilators without resolution.
Case Presentation
Here, a patient with tracheal adenoid cystic carcinoma who had been previously diagnosed with difficult asthma was reported. The possibility of the presence of localized airway obstruction was raised when the flow-volume curve suggesting fixed airway obstruction, was obtained.
Conclusion
The presenting case report emphasizes the fact that not all wheezes are asthma. It is critical to bear in mind that if a patient does not respond to appropriate anti-asthma therapy, localized obstructions should be ruled out before establishing the diagnosis of asthma.
doi:10.1186/1471-2466-4-10
PMCID: PMC526771  PMID: 15494074
17.  Vasculitis masquerading as aortic valve endocarditis 
Heart  2005;91(5):e37.
Small vessel vasculitis and endocarditis can both present with multisystem involvement and may present a diagnostic dilemma. Renal and cardiac involvement is common in small vessel vasculitis and rarely small vessel vasculitis may cause heart block. When a patient presents with diffuse symptoms, deteriorating renal function, and heart block, endocarditis and vasculitis should be included in the differential diagnosis. The case is discussed of a man with a history of aortic valve endocarditis who presented again with similar symptoms, deteriorating renal function, and heart block. There was no evidence of aortic valve endocarditis with abscess formation. A renal biopsy confirmed small vessel vasculitis and the patient responded promptly to immunosuppressive treatment. Correct diagnosis is essential in such cases, as immunosuppression in true endocarditis can be catastrophic. In this case, with the correct diagnosis, immunosuppression proved life saving and prevented erroneous aortic valve surgery.
doi:10.1136/hrt.2005.060525
PMCID: PMC1768888  PMID: 15831622
endocarditis; heart block; small vessel vasculitis
18.  Primary Cutaneous Vasculitis Masquerading as Drug Induced following Aspirin Desensitization 
Case Reports in Medicine  2013;2013:745714.
Aspirin-exacerbated respiratory disease (AERD) is a well-known clinical condition. Aspirin desensitization followed by daily aspirin therapy is the treatment of choice. We report a challenging case of primary cutaneous vasculitis following aspirin desensitization in a patient with AERD. The vasculitis was likely suppressed with higher dose systemic steroid use to control asthma. Aspirin desensitization led to improved asthma control and steroid reduction, which led to manifestation of prior suppressed cutaneous vasculitis. In our case, there was no evidence of systemic involvement and the patient had a favorable outcome with appropriate therapy.
doi:10.1155/2013/745714
PMCID: PMC3857825  PMID: 24348575
19.  Culture-negative subacute bacterial endocarditis masquerades as granulomatosis with polyangiitis (Wegener’s granulomatosis) involving both the kidney and lung 
BMC Nephrology  2012;13:174.
Background
Subacute bacterial endocarditis (SBE) occasionally exhibits positive cytoplasmic anti-neutrophil cytoplasmic antibody (c-ANCA) of the anti-proteinase-3 (PR-3) type. Clinically, it mimics ANCA-associated vasculitis, such as Wegener's disease with glomerulonephritis. Lung abscesses are the most common manifestation of lung involvement. We herein report a case of culture-negative SBE strongly c-ANCA/PR3-positive accompanied by pulmonary involvement and glomerulonephritis. In this case, we took biopsies of both the lung and kidney, although renal biopsy is usually preferred over lung biopsy. The lung biopsy showed severe alveolar capillaritis, suggesting vasculitis consistent with polyangiitis. The renal biopsy revealed glomerulonephritis with a membranoproliferative pattern. To our knowledge, this is the first such reported case.
Case presentation
A 68-year-old Chinese male patient presented to our hospital with a fever, cough, chest pain, and recurrent peripheral edema. He had a past medical history significant for treated schistosomiasis 20 years previously. Physical examination revealed palpable purpura, mild hypertension, hepatosplenomegaly, and a holosystolic cardiac murmur (Levine 2/6). Echocardiography showed tricuspid valve vegetations with moderate to severe regurgitation. Serum c-ANCA/PR3 and cryoglobulin were strongly positive. Renal biopsy results indicated membranoproliferative glomerulonephritis with several crescents. Chest CT revealed multiple intraparenchymal and subpleural nodules, and lung biopsy showed polyangiitis. The patient’s ANCA titers, glomerulonephritis, and pulmonary injury all resolved after antibiotic therapy.
Conclusion
SBE may present with positive c-ANCA/PR3, multiple pulmonary nodules, pulmonary polyangiitis, and glomerulonephritis clinically mimicking granulomatosis with polyangiitis (Wegener's granulomatosis).
doi:10.1186/1471-2369-13-174
PMCID: PMC3574827  PMID: 23268737
Subacute bacterial endocarditis; PR3/c-ANCA; Granulomatosis with polyangiitis (Wegener's granulomatosis); Glomerulonephritis
20.  Atrial myxoma masquerading as Takayasu’s arteritis 
JRSM Open  2014;5(11):2054270414550977.
Lesson
We describe the case of a 48-year-old woman whose atrial myxoma was mistaken for vasculitis. The case report highlights the reasons why these two disorders may become confused, the dangers of initiating the wrong treatment and a simple means of avoiding misdiagnosis.
doi:10.1177/2054270414550977
PMCID: PMC4228930  PMID: 25408917
Atrial myxoma; vasculitis; endocarditis
21.  Multiple idiopathic arterial aneurysms masquerading as aortic dissection 
BMJ Case Reports  2013;2013:bcr2012008030.
We report the case of a 58-year-old lady who presented with abdominal pain and backache. Although initial evaluation was strongly suggestive of abdominal aortic dissection, she was ultimately found to have multiple arterial aneurysms. Work-up for underlying vasculitis was negative. Surgical repair was planned and the patient was referred to a cardiovascular surgeon. This case highlights the importance of careful radiological assessment in patients with suspected aortic dissection.
doi:10.1136/bcr-2012-008030
PMCID: PMC3604198  PMID: 23420724
22.  Post-Transplant Opportunistic Infection: Case of Mycobacterium Haemophilum Masquerading as Leprosy in a Renal Transplant Patient 
Abstract
Introduction
Immunosuppression following solid organ transplantation (SOT) predisposes patients to the development of opportunistic infections that manifest in many ways including cutaneous infection. Skin lesions in immunosuppressed patients have a broad differential including both infectious and non-infectious etiologies. Skin infections by mycobacteria are relatively rare and most are due to nontuberculous mycobacterium (NTM). One such NTM, Mycobacterium haemophilum, is generally reported in opportunistic skin infections often associated with water exposure. Very rarely, M. leprae also has been reported as a cause of opportunistic skin infections in SOT recipients. Both pathogens may be difficult to distinguish both clinically and pathologically, but culture can distinguish between the two because M. haemophilum will grow and M. leprae will not. We present a case of M. haemophilum cutaneous infection in a renal transplant recipient that was initially felt to be due to M. leprae based on biopsy appearance.
Case Report
A 67-year-old Asian man with a history of renal transplant in 2006 presented to an outside facility with a 4 month history of swelling and rash over his right lower extremity. Examination revealed multiple non-pruritic, painless, erythematous plaques and edema over the right residual limb. Treatment with anti-fungal cream was unsuccessful and steroid cream resulted in worsening of rash. Biopsy showed tuberculoid granulomatous dermatitis with no visualized acid fast bacilli (AFB) but neuronal invasion that was concerning for leprosy. He was referred to the Infectious Disease service. The patient's history was also significant for DM, PVD status post right below the knee amputation, and travel or residence in Thailand, Vietnam, and Panama. Patient had been on immunosuppression since 2006 with cyclosporine, mycophenolate, and low dose prednisone. Due to the concern for leprosy, a tissue sample was obtained at our facility for pathology and AFB culture. Biopsy was notable for granulomatous dermatitis and presence of AFB consistent with borderline tuberculoid leprosy. Culture, however, was positive for AFB and final identification revealed M. haemophilum by PCR. Patient was treated initially with clarithromycin then ciprofloxacin was added based on results of susceptibility testing. The patient has had a good clinical response with significant improvement of the rash.
Discussion
NTM are known to cause skin infections in SOT patients. M. leprae is a very rare pathogen whereas other NTM such as M. haemophilum are more common. Nerve involvement is a common feature of M. leprae and is considered to be highly suggestive of leprosy in the appropriate clinical setting. This case was unique as the initial biopsy showed neuronal invasion, leading to the suspicion for leprosy, but the culture subsequently grew M. haemophilum. This is the first known case describing neuronal invasion caused by M. haemophilum.
PMCID: PMC3764589
23.  Acute EBV infection masquerading as "In-situ Follicular Lymphoma": a pitfall in the differential diagnosis of this entity 
Diagnostic Pathology  2013;8:100.
We present the case of a 30 year-old man who was referred for evaluation of diffuse lymphadenopathy. Six weeks prior, he noticed darkening of his urine associated with pale stools, nausea and an eventual 30 lb weight loss within a month. The initial laboratory findings showed elevation of the liver enzymes. A CT scan showed mesenteric and periaortic lymphadenopathy with the largest lymph node measuring 2.8 cm. Other laboratory results were otherwise unremarkable (including a normal LDH) with the exception of positive serum antibodies against Epstein-Barr virus (EBV) associated antigens (IgM+ and IgG+). An excisional biopsy of 4 of the small neck lymph nodes showed a normal architecture with prominent follicles and an intact capsule. But, by immunohistochemistry two of the follicles showed aberrant coexpression of BCL-2, in addition to CD10 and BCL-6. In-situ hybridization for early Epstein-Barr virus mRNA (EBER) and immunohistochemistry for latent membrane protein-1 (LMP-1) stained both scattered positive cells, as well as BCL-2 positive B-cells. Although an original diagnosis of in-situ follicular lymphoma was favored at an outside facility, additional interphase fluorescence in situ hybridization (FISH) studies for t(14;18);(IGH-BCL2) rearrangement (performed on the BCL-2 + follicles microdissected from the tissue block; Abott probe dual colour fusion) and molecular studies (IGH gene rearrangement by PCR, also performed on the microdissected follicles) were negative. Serologic studies (positive EBV antibodies) and immunostains in conjunction with the molecular studies confirmed the reactive nature of the changes. Our case also shows direct immunopathogenic evidence of BCL-2 expression among the EBV-infected cells, which has to our knowledge not been previously documented in vivo. A diagnosis of EBV infection should, therefore, be considered when confronted with BCL-2 expression in germinal centers, particularly in younger individuals, as the diagnosis of FLIS may lead to extensive and invasive haematologic work-ups.
Virtual slides
The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1323656318940068
doi:10.1186/1746-1596-8-100
PMCID: PMC3874606  PMID: 23782909
24.  Central Pontine and Extrapontine Myelinolysis: The Great Masquerader—An Autopsy Case Report 
Central pontine myelinolysis is a demyelinating disorder characterized by the loss of myelin in the center of the basis pontis usually caused by rapid correction of chronic hyponatremia. The clinical features vary depending on the extent of involvement. Demyelination can occur outside the pons as well and diagnosis can be challenging if both pontine and extrapontine areas are involved. We herein report a case of myelinolysis involving pons, lateral geniculate bodies, subependymal region, and spinal cord. To the best of our knowledge, this case represents the second case of spinal cord involvement in osmotic demyelination syndrome and the first case of involvement of thoracic region of spinal cord.
doi:10.1155/2014/745347
PMCID: PMC3970353  PMID: 24716023
25.  Uveal Melanoma in the Peripheral Choroid Masquerading as Chronic Uveitis 
Optometry and Vision Science  2014;91(9):e222-e225.
ABSTRACT
Purpose
To describe a case of uveal melanoma in the peripheral choroid masquerading as chronic uveitis and to raise awareness about malignant masquerade syndromes.
Case Report
A 36-year-old Chinese woman presented from an outside ophthalmologist with a 6-month history of unilateral chronic uveitis unresponsive to medical therapy in the left eye. She was found to have a uveal melanoma in the retinal periphery and underwent successful enucleation of her left eye. The histopathological diagnosis confirmed the clinical diagnosis.
Conclusions
When uveal melanoma presents in an atypical way, the diagnosis is more difficult. This case highlights the uncommon presentations of malignant melanoma of the choroid. It provides valuable information on how peripheral uveal melanoma can present with clinical signs consistent with an anterior uveitis.
doi:10.1097/OPX.0000000000000350
PMCID: PMC4186724  PMID: 25036546
uveal melanoma; masquerade syndromes; uveitis; pathology; treatment

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