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.
Liver cirrhosis; T-cell lymphoma; autoimmune hepatitis; Babesia microti
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.
Tracheal tumors are often misdiagnosed as asthma and are treated with inhaled steroids and bronchodilators without resolution.
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.
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.
Long QT syndrome; Jervell and Lange–Nielsen syndrome; seizures
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.
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.
endocarditis; heart block; small vessel vasculitis
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.
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).
Subacute bacterial endocarditis; PR3/c-ANCA; Granulomatosis with polyangiitis (Wegener's granulomatosis); Glomerulonephritis
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.
B-cell lymphoma; metastasis; uveitis; vasculitis; vitreoretinal lymphoma; vitrectomy
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.
Periocular tumors are common in infancy. The most common periocular tumors are capillary hemangiomas, which are present in 1-2% of newborns and develop in 10%–12% of children by the age of 1 year old. Deep capillary hemangiomas may be more challenging to diagnose than superficial capillary hemangiomas and can be confused with other orbital lesions. Deep orbital hemangiomas can mimic teratoma, lymphangioma, rhabdomyosarcoma, metastatic neuroblastoma, and granulocytic sarcoma. In this paper, we describe 2 pediatric cases where previously diagnosed dermoid cyst and dacrocystocele were found to be capillary hemangiomas upon biopsy. Approaches to distinguish capillary hemangiomas from other periocular tumors are further discussed. To our knowledge, this is the first case report of periocular hemangiomas imitating a dermoid cyst and a dacrocystocele. These cases emphasize the importance of including infantile hemangiomas in the differential diagnosis of subcutaneous periocular abnormalities.
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.
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.
Mirizzi’s syndrome; Cholangiocarcinoma; Obstructive jaundice
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.
Gonadotropins; growth hormone; pituitary adenoma; plurihormonal; thyroid stimulating hormone
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.
Carcinoma of the penis; carcinoma of the prostate; penile metastasis; prostate cancer
Nodular fasciitis (NF) is a benign myofibroblastic proliferation in soft tissue. The most common sites are extremities, followed by the trunk and head and neck region. It is infrequently seen in the post-auricular region of pinna.
We present here an interesting case of a young male who had a swelling in the post-auricular region; on cytology, it was diagnosed as pleomorphic adenoma; however, biopsy revealed characteristic morphology of NF.
The case highlights the potential pitfall of cytology in diagnosing NF, especially because of unusual site and morphologic overlap.
Cytology; nodular fasciitis; pleomorphic adenoma; post-aural region
Primary Epstein-Barr virus (EBV) infection occurs mainly in adolescents and young adults, with more than 90% of adults having serological evidence of past infection. Primary infection in those over the age of 40 is associated with an atypical and often more severe presentation that can lead to more extensive and invasive, and often unnecessary, diagnostic testing. The incidence of severe EBV-related illness in older adults has been observed to be increasing in industrialized nations. The characteristic presentation of infectious mononucleosis (IM) syndrome in elderly patients (age > 65) is not clearly defined in the literature. Here, we describe a case of primary EBV infection in an 80-year-old female and review the literature regarding primary seroconversion in elderly patients.
This short communication is about Munchausen's syndrome in a group of pediatric patients and co morbid Munchausen's syndrome by proxy. A 7-year-old girl presented with spontaneous bleeding from forehead, eyes and scalp. The girl was investigated thoroughly by pediatricians at a tertiary care hospital in western India for all possible bleeding disorders, but there was no conclusive diagnosis. After two days, cases with similar complaints were reported among children residing in the same locality and with similar socioeconomic background. All of them were investigated in detail for possible causes of bleeding but nothing came out. There was a media reporting of the cases as a mysterious bleeding disorder. At this point of time, an expert opinion from the psychiatrist was demanded. Covert video surveillance and series of interviews revealed Munchausen's syndrome and possible Munchausen's syndrome by proxy. An in-depth literature review with special reference to Munchausen's syndrome was carried out to come to a final conclusive diagnosis.
Munchausen's syndrome; Munchausen's syndrome by proxy; spontaneous bleeding disorder
Ectopic thyroid glands generally occur in the midline as a result of abnormal median migration, and their presence lateral to the midline is rare. We present one case of an ectopic thyroid gland masquerading as a lateral neck metastasis of a papillary thyroid carcinoma (PTC). In this case of a 54-yr-old woman with left PTC, we suspected left lateral neck metastasis on preoperative neck computed tomography. The patient underwent total thyroidectomy, central compartment neck dissection, and left modified radical neck dissection (MRND). The patient was diagnosed as having an accessory thyroid gland on the lateral neck on the final pathologic report. Surgeons should be aware of the existence of an ectopic thyroid gland in unusual locations.
Ectopic Thyroid; Carcinoma, Papillary
We report a case of small cell lung cancer that turned out to be a metastatic teratoma from the nasal cavity rather than a new primary cancer. A 54-year-old woman was diagnosed with an immature teratoma of the nasal cavity with a predominant neuroblastomatous component. Small cell lung cancer was detected by bronchoscopic biopsy 21 months later, and it was treated with concurrent radiochemotherapy as if it had been a new primary cancer. Since a recurrent tumor containing fat-like density grew slowly on the serial chest CT scans after achieving complete response, we reached the conclusion that the small undifferentiated cells could be metastatic neuroblastomatous components from the immature teratoma of the nasal cavity.
Teratoma; small cell carcinoma; metastasis
Osteoma cutis of the foot is extremely rare and there are very few reported cases. The incidence of in-growing toenail in the United Kingdom is estimated to be 10,000 new cases per year and many are treated non-operatively. We present a case where osteoma cutis was masquerading as an in-growing toenail, and wish to highlight the condition as a differential diagnosis for this condition. There have been case reports of bony cutaneous lesions of the foot, both benign and malignant and so these are especially important to consider in the differential diagnoses where non-operative management is being considered.
Here we report a case of primary epithelioid angiosarcoma (eas) of the breast occurring in a 30-year-old woman. Following fine-needle asspiration cytology (fnac) and tru-cut biopsy, the patient was initially diagnosed with mammary carcinoma and thereafter underwent modified radical mastectomy. Postoperative histopathologic examination and immunohistochemistry revealed a diagnosis of primary epithelioid angiosarcoma of the breast. The patient received postoperative radiotherapy to the chest wall and was started on adjuvant thalidomide. Preoperatively, eas can be mistaken for carcinoma because it is difficult to appreciate the typical morphology on fnac or tru-cut biopsy. Indeed, this is an area of potential diagnostic error because, nowadays, neoadjuvant therapy is often instituted after core biopsy of a breast mass. This case is being reported not only for its diagnostic difficulty, but also because of its rarity in English literature.
Breast; primary epithelioid angiosarcoma
Giant cell tumor (GCT) is an aggressive, but usually benign bone neoplasm most commonly arising in the metaphysis/epiphyses of long bones. While they are categorized as benign tumors, they can be locally aggressive and clinically have metastatic potential. The most common locations of this tumor include the distal femur, proximal tibia, and distal radius. We report a GCT arising in an atypical location and mimicking a breast mass.
This case was diagnosed at a large cancer center in Florida. Pertinent clinical findings were obtained from chart review and inter-departmental consultation. Radiologically, the initial impression included a deep-seated breast cancer with local chest wall invasion. Further evaluation revealed the mass to be an expansile rib lesion with extraosseous soft tissue invasion. Histological examination of the biopsy specimen showed bland multi-nucleated giant cells and mononuclear cells whose nuclei were morphologically similar. No necrosis, pleomorphism or mitotic activity was identified. No chondroid or osseous elements were present.
The histological features of bland mononuclear and multinucleated giant cells along with the lack of any additional mesenchymal elements led to the diagnosis of giant cell tumor. Resection of tumor was performed. The patient is disease free as of the last follow-up visit. This case is important as it shows where the physician must keep this diagnosis in mind whenever a deeply located breast mast is present.
We would like to present a novel form of Munchausen's syndrome which presented us with a difficult problem in the midst of the recent media hysteria regarding flesh eating bacteria. This condition, first described by Richard Asher in 1951, is often very difficult to diagnose and it is not, therefore, surprising that the victims have been through several episodes of treatment before the suspicions of staff are raised. It owes its name to a fictitious character, Baron Karl Friedrich Hieronymus Freihess von Munchausen, who recounted extraordinary and wildly exaggerated exploits of adventure and daring, not unlike patients who present with this condition. Our enquiries revealed that the laid down procedure when faced with a patient with this condition is that the regional medical officer (RMO) should be contacted. It is then his responsibility to contact other RMOs, who in turn pass the information on to accident and emergency consultants in their area.
To describe a case of orbital mucosa-associated lymphoid tissue (MALT) lymphoma masquerading as unilateral panuveitis.
Retrospective chart review.
A 53-year-old female patient with unilateral vitritis and exudative retinal detachment refractory to immunosuppressive treatment was eventually diagnosed with orbital MALT lymphoma. Following treatment with radiotherapy and rituximab, the patient's intraocular inflammation and retinal detachment resolved.
Orbital MALT lymphoma can masquerade as refractory unilateral panuveitis with exudative retinal detachment and appears to respond to a combination of radiotherapy and specific B-cell-targeted systemic therapy.
MALT lymphoma; orbital MALT lymphoma; Rituximab; uveitis; masquerade syndrome
Lymphangiomas are congenital malformations of the lymphatic system that account for about 5% of all benign tumors in infants and children.1 The most common sites are the neck and axilla, which account for 95% of cases.2 Abdominal cystic lymphangiomas are quite rare, and can arise from either the retroperitoneum, gastrointestinal tract, or the mesentery of the abdominal viscera.3 The presenting symptoms are painless abdominal distension, a palpable mass, or secondary complications in the abdomen such as intestinal obstruction, volvulus, intestinal infarction, or bleeding.4 Typically diagnosed during childhood, these tumors prompt surgical intervention. We describe an atypical case of an abdominal cystic lymphangioma, which did not manifest until adulthood, with atypical symptoms of a rapidly expanding and symptomatic mass.
cystic lymphangioma; mesenteric lymphangioma; retroperitoneal lymphangioma.
Elastofibroma dorsi (ED) is a soft tissue tumor found in the subscapular region. The pathogenesis of ED is unclear, but may involve a regenerative or reactive hyperproliferation due to mechanical microtrauma. Magnetic resonance imaging (MRI) is preferred to diagnose ED and complete excision is curative. When bilateral, subscapular masses are identified in the elderly patient and MRI characteristics are typical, biopsy and excision can be avoided. Symptomatic EDs should be excised, and recurrence is rare. Three hundred and thirty cases of ED have been reported since 1980. Fourteen case series and 43 isolated case reports involved 263 women and 67 men (F:M ratio = 3.9:1), with a mean age of 62 years (range 6–94 years). Bilateral ED was present in 164 patients and unilateral ED in 157. The reported prevalence in the elderly population ranges from a minimum of 2% to a maximum of 24%.
Elastofibroma dorsi; fibroma; hemangioma; lipoma; sarcoma; soft tissue tumor; subscapular mass