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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.
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.
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.
PMCID: PMC3635184  PMID: 23730508
Liver cirrhosis; T-cell lymphoma; autoimmune hepatitis; Babesia microti
4.  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.
PMCID: PMC3522482  PMID: 23251171
5.  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.
PMCID: PMC3029032  PMID: 21686622
6.  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.
PMCID: PMC3063271  PMID: 22701067
7.  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.
PMCID: PMC3345596  PMID: 22566733
Long QT syndrome; Jervell and Lange–Nielsen syndrome; seizures
8.  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.
PMCID: PMC3797020  PMID: 24133567
immunosuppression; skin cancer; squamous cell carcinoma; tumor; molluscum contagiosum
9.  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.
PMCID: PMC3830913  PMID: 24282797
Biopsy; Lymphoma; Ulcer; Penis
10.  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.
PMCID: PMC4020127  PMID: 24759351
pancreatic tuberculosis; pancreatic cancer; endoscopic ultrasonography
11.  Tracheal adenoid cystic carcinoma masquerading asthma: A case report 
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.
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.
PMCID: PMC526771  PMID: 15494074
12.  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.
PMCID: PMC1768888  PMID: 15831622
endocarditis; heart block; small vessel vasculitis
13.  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.
PMCID: PMC3857825  PMID: 24348575
14.  Culture-negative subacute bacterial endocarditis masquerades as granulomatosis with polyangiitis (Wegener’s granulomatosis) involving both the kidney and lung 
BMC Nephrology  2012;13:174.
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.
SBE may present with positive c-ANCA/PR3, multiple pulmonary nodules, pulmonary polyangiitis, and glomerulonephritis clinically mimicking granulomatosis with polyangiitis (Wegener's granulomatosis).
PMCID: PMC3574827  PMID: 23268737
Subacute bacterial endocarditis; PR3/c-ANCA; Granulomatosis with polyangiitis (Wegener's granulomatosis); Glomerulonephritis
15.  Post-Transplant Opportunistic Infection: Case of Mycobacterium Haemophilum Masquerading as Leprosy in a Renal Transplant Patient 
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.
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
16.  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:
PMCID: PMC3874606  PMID: 23782909
17.  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.
PMCID: PMC3970353  PMID: 24716023
18.  Ovarian Teratoma Masquerading as a CSF Pseudocyst in a Female with a Ventriculoperitoneal Shunt 
Case Reports in Medicine  2009;2009:240705.
Background. In today's fast-paced and high-acuity emergency departments, clinicians are often compelled to triage cases so rapidly that a differential diagnosis consistent with the history and physical examination is not comprehensive. Case Report. This case report describes the unexpected finding of a cystic ovarian neoplasm in a young female with an abdominal mass and a ventriculoperitoneal shunt, initially diagnosed as a cerebrospinal fluid pseudocyst. We use this case to illustrate that the astute clinician must always synthesize a diagnosis from all data sources and not to rely on initial radiographic evaluations. Conclusions. This remarkable case demonstrates that all differential diagnoses must be entertained in order to rapidly and accurately diagnose a patient with a cystic abdominal mass.
PMCID: PMC2729319  PMID: 19718253
19.  Hepatic tuberculosis presenting with extreme hyperferritinemia masquerading as adult-onset Still’s disease: a case report 
Isolated hepatic tuberculosis is an uncommon manifestation of one of the most common infections worldwide, caused by Mycobacterium tuberculosis. Extremely high serum ferritin, which is regarded as a marker of adult onset Still’s disease, has not been observed in patients with tuberculosis of the liver. We report a case of hepatic tuberculosis who presented with clinical criteria of adult-onset Still’s disease and extreme hyperferritinemia, which posed a diagnostic confusion.
Case presentation
Our patient was a 48-year-old Sri Lankan man who presented with fever, polyarthralgia and a generalized skin rash of three months duration. He had marked constitutional symptoms, oral ulcers, hair loss, anemia and hepatomegaly. Laboratory investigations disclosed an inflammatory syndrome, evidence of hepatic dysfunction, bone marrow suppression and a raised serum ferritin level of 34,674 ng/ml. A rapidly deteriorating course of illness prompted treatment based on a presumptive diagnosis of adult-onset Still’s disease until liver histology was available. The patient died of sepsis followed by multi-organ dysfunction. Later, the liver histology revealed tuberculosis.
Extrapulmonary tuberculosis, although well known to present with peculiar manifestations, has not been reported to be associated with extremely high levels of serum ferritin in immunocompetent individuals. Isolated hepatic tuberculosis presenting with clinical criteria of adult-onset Still’s disease is remarkable. Since tuberculosis remains a potentially curable disease, an awareness of its’ protean manifestations is essential.
PMCID: PMC3419668  PMID: 22788693
Ferritin; Adult-onset Still’s disease; Tuberculosis; Granulomatous hepatitis
20.  Mirizzi’s syndrome masquerading as cholangiocarcinoma: a case report 
Mirizzi’s syndrome is a rarely observed disorder that presents with obstructive jaundice. The condition is caused by a stone impacted in the gall bladder neck or cystic duct that impinges on the common hepatic duct, with or without a cholecystocholedochal fistula. The condition is often confused with other serious conditions such as hilar cholangiocarcinoma, which present with similar clinical and imaging findings, and a pre-operative diagnosis may be a serious challenge.
Case presentation
We present the case of a 44-year-old Asian man with Mirizzi’s syndrome who was initially diagnosed as having cholangiocarcinoma based on his clinical presentation, raised cancer antigen 19–9 levels and radiological findings. Our patient was diagnosed as having Mirizzi’s syndrome intra-operatively and subsequently a cholecystectomy was performed with restoration of biliary drainage. Careful clinical assessment during surgery with the help of intra-operative frozen section helped in establishing the definitive diagnosis and altered the surgical procedure for our patient.
Pre-operative diagnosis of Mirizzi’s syndrome could be challenging as the clinical, biochemical and radiological presentation is similar to other conditions causing obstructive jaundice such as choledocholithiasis, bile duct stricture or cholangiocarcinoma. A high index of suspicion and careful surgical assessment may help in establishing a diagnosis and alter the clinical course for our patient.
PMCID: PMC3423052  PMID: 22703944
Mirizzi’s syndrome; Cholangiocarcinoma; Obstructive jaundice
21.  A Rare Form of Melanoma Masquerading as a Diabetic Foot Ulcer: A Case Report 
Case Reports in Endocrinology  2012;2012:502806.
Background. Acral lentiginous melanoma (ALM) is a less-common form of melanoma in US, and it accounts for about 5% of all diagnosed melanomas in US. ALM is often overlooked until it is well advanced because of the lesion's location and its atypical appearance in the early stages. We present a case of ALM initially presented as a diabetic foot ulcer. Case Report. An 81-year-old man initially presented to the primary care clinic with a right foot diabetic ulcer. There was a large plantar, dark-colored ulcer that bled easy. Initial excision biopsy revealed Clark's Level IV ALM. Subsequent definitive wide excision and sentinel node biopsy confirmed ALM with metastasis to inguinal lymph nodes (stage IIIb). The treatment included wide margin excision of the lesion with en bloc amputations of 4th and 5th toes, followed by adjuvant chemotherapy. Discussion. The development of ALM may potentially relate to diabetes as a reported higher prevalence of diabetes with ALM patients. Conclusion. The difficulty in early diagnosing of ALM remains as a formidable challenge particularly in diabetic patients who commonly develop plantar foot ulcers due to the diabetic neuropathy. This case reiterates the importance of a thorough foot exam in such patients.
PMCID: PMC3420798  PMID: 22937296
22.  Complex partial non-convulsive status epilepticus masquerading as hepatic encephalopathy: a case report 
Hepatic encephalopathy is usually suspected in patients who are cirrhotic with neuropsychiatric manifestations. We present a case of suspected hepatic encephalopathy that did not respond to standard empiric therapy and was eventually diagnosed as non-convulsive status epilepticus of complex partial type. Our patient responded dramatically to anti-convulsive therapy.
Case presentation
We report the case of a 45-year-old African-American man with hepatitis C virus cirrhosis and human immunodeficiency virus who presented to our facility with a one-day history of confusion and a variable mental status. Our patient’s vital signs were stable and all his electrolytes were within normal range. A clinical diagnosis of hepatic encephalopathy was made and our patient was started on empiric therapy with lactulose and rifaximin. Our patient did not respond to therapy. After five days of treatment, alternative diagnoses were sought and a neurology consult was requested. An electroencephalogram was eventually performed which showed seizure activity in the right parietal lobe. A diagnosis of non-convulsive status epilepticus was made and our patient was started on oral levetiracetam. On day two of therapy, our patient was alert and oriented. He continues to do well on follow-up approximately one year after discharge.
Non-convulsive status epilepticus should be considered in the differential diagnosis of patients with suspected hepatic encephalopathy who do not respond to empirical treatment. Further studies are needed to investigate the incidence of this entity in patients with persistent hepatic encephalopathy.
PMCID: PMC3560269  PMID: 23244300
Hepatic encephalopathy; Non-convulsive status epilepticus; Partial seizures; Electroencephalogram
23.  Plurihormone secreting pituitary macroadenoma masquerading as thyrotoxicosis: Clinical presentation and diagnostic challenges 
Thyroid stimulating hormone (TSH) secreting adenomas are the rarest type of pituitary adenomas (1:1000000 in the population; 0.2- 2.8% of adenomas). Plurihormonal thyrotropic adenomas are even rarer usually having cosecretion of growth hormone (GH) and prolactin. We report perhaps for the first time, TSH, GH, adrenocorticotrophic hormone (ACTH) and gonadotropins secreting pituitary macroadenoma diagnosed in a 40 year lady presenting with features of thyrotoxicosis for 5 months, amenorrhea for 3 months and newly diagnosed diabetes and hypertension for 2 months along with headache, nausea, and vomiting, who had acromegaloid habitus, grade-II goitre, increased uptake on Technitium-99 pertechnate thyroid scan (4.1%; normal: 0.24-3.34%), with increased T3 (5.98 pg/ ml; 1.5-4.1), increased T4 (2.34 ng/dl; 0.9-1.8), inappropriately high TSH (2.32 μIU/ml; 0.4-4.2), insulin like growth factor-1 (711 ng/ ml; 109-264), non-suppressed post-glucose GH (15.9 ng/ml; <1 ng/ml), normal estradiol (52 pg/ml; 21-251), inappropriately high luteinizing hormone (53.5 mIU/ml; 1.1-11.6), inappropriately high follicle stimulating hormone (59 mIU/ml; 3-14.4), non-suppressed overnight dexamethasone cortisol (5.8 mcg/dl; <2), elevated ACTH (58 pg/ml 5-15), withdrawal bleed on progestrogen challenge, bitemporal hemianopia on automated perimetry and pituitary macroadenoma on MRI imaging of sella. Thyroid hormone resistance was ruled out by documenting normal sex hormone binding globulin and ferritin levels. Her clinical and biochemical phenotype was not suggestive of multiple hormone resistance seen in pseudohypoparathyroidism. This report intends to highlight the challenges in the diagnosis of plurihormonal thyrotropic adenoma.
PMCID: PMC3603059  PMID: 23565411
Gonadotropins; growth hormone; pituitary adenoma; plurihormonal; thyroid stimulating hormone
24.  Penile nodule with inguinal lymphadenopathy: Prostatic adenocarcinoma masquerading as penile cancer 
Although anatomically the penis is closely related to the prostate, penile metastasis from prostate cancer is an uncommon phenomenon. These patients usually present late in the course of the disease with wide spread metastasis. We report a patient who presented with a penile mass and inguinal lymphadenopathy. He was clinically diagnosed as a case of penile cancer but the penile mass as well as the inguinal lymphadenopathy was subsequently diagnosed to be metastases from carcinoma of the prostate.
PMCID: PMC3649602  PMID: 23671367
Carcinoma of the penis; carcinoma of the prostate; penile metastasis; prostate cancer
25.  von Hippel-Lindau disease-associated solid microcystic serous adenomas masquerading as pancreatic neuroendocrine tumors 
Surgery  2012;152(6):1106-1117.
Patients with von Hippel-Lindau disease (VHL) commonly develop pancreatic cysts and neuroendocrine tumors (PNETs). Solid microcystic serous adenoma (SMSA), a rare tumor described in VHL patients, can be mistaken for PNET on imaging.
Clinical, pathologic and radiologic data were reviewed on VHL patients who underwent surgery for a pre-operative diagnosis of PNET since 1994 at one institution. Blinded to the pathological diagnoses, radiologists reassessed available imaging.
For 55 patients, 79 pancreatectomies were performed for presumed PNETs. Ten (18.2%) patients underwent 12 (15.2%) resections for tumors diagnosed as SMSA on final pathology. The average size of a SMSA leading to surgery was 3.6 ±0.4 cm. Four out of 11 SMSAs were still mistaken for PNETs when imaging was reassessed. Mean FDG-PET SUV was higher for 17 PNETs (12.1 ±1.2) compared to 6 SMSAs (4.2 ±0.5; p=0.002). The mean doubling time of SMSAs and PNETs was similar. Seven (15.2%) patients with pathologically-proven PNETs had malignant disease.
SMSAs can mimic PNETs on non-functional imaging; FDG-PET may help differentiate them. A high index of suspicion is needed to minimize operations performed for SMSA and to counsel VHL patients of their risks of undergoing surgery for a lesion with no known malignant potential.
PMCID: PMC3501588  PMID: 23107912

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