Atypical Clinical Findings Research Articles

Sarcoidosis Uveitis Mimicking the Presentation of Intraocular Lymphoma

We aimed to report a case of sarcoidosis presenting with atypical clinical findings that mimicked intraocular lymphoma. A 73-year-old female presented with flashes and decreased vision in her left eye over a 2-week period. The patient had no previous ocular medical history. Initial fundal examination revealed vitritis (vitreous inflammation) with retinal hemorrhage and subretinal yellowish lesions in the left eye. All tests were negative for infectious causes. Serum angiotensin-converting enzyme (ACE) was normal. Flow cytometric analysis of vitreous showed a suspicious CD4 + T lymphoid population missing CD7 surface antigen and an elevated CD4/CD8 ratio. Chest CT showed hilar lymphadenopathy. Clinical findings to this point raised the suspicion of lymphoma. Hilar lymph node biopsy demonstrated granulomatous inflammation, confirming the diagnosis of sarcoidosis. Sarcoidosis presenting with uveitis in an elderly patient may pose a diagnostic challenge due to variable presentation and absence of diagnostic criteria. Retinitis and subretinal infiltrates can be a misleading clinical finding of sarcoidosis masquerading as an intraocular oncologic process such as lymphoma. J Med Cases. 2019;10(1):4-7 doi: https://doi.org/10.14740/jmc3190

Literature Review of All Cases of Aggressive T-Cell Large Granular Lymphocytic Leukemia Cases and Report of an Additional Case

Large granular lymphocyte (LGL) leukemia is a spectrum of rare lymphoproliferative disorders, classified into T-cell LGL leukemia, chronic lymphoproliferative disorder of NK-cells and aggressive NK-cell leukemia; chronic NK-cell leukemia is a provisional diagnosis.However, we identified fourteen cases of aggressive T-LGL leukemia retrieved in the literature. Considering this unusual and rare clinical presentation, we are reporting a literature review and presenting an additional case.Leukemic cells of T-LGL leukemia have a characteristic phenotype (CD3+CD8+CD16+CD57+) and show clonal TCR gene rearrangement, while leukemic cells of aggressive NK cell leukemia show a distinguishable phenotype (CD3-CD4-CD8-CD16+CD56+CD57-) and are EBV-related. In contrast with the aggressive NK cell leukemia, the chronic lymphoproliferative disorder of T-cell is not EBV-associated and has a distinguishable immunophenotype (CD16+CD56−CD57+). While T-LGL leukemia and chronic lymphoproliferative disorder of NK-cells have a more chronic disease (years), mainly reported with autoimmune disease (rheumatoid arthritis), numerous infections due to neutropenia and a mild-to-moderate splenomegaly, aggressive NK-cell leukemia is characterized by systemic manifestations and a disseminated disease after a few weeks of presentation despite treatment instauration.In contrast to the T-LGL leukemia, aggressive T-LGL leukemia has a clinical presentation similar to the aggressive NK-cell leukemia, characterized by constitutional symptoms, rapidly progressive hepatosplenomegaly, cytopenia and organ infiltration.The atypical clinical presentation and pathological findings of the aggressive T-LGL leukemia explain the diagnostic challenge of this entity for clinicians. In fact, cases of aggressive T- LGL leukemia retrieved atypical size, irregular nuclei and atypical immunophenotype. Some cases had features similar to those described for patients with NK-cell leukemia (CD56+CD57-) while others did not present neither NK nor T-cell classical immunophenotype (CD56-57-).Facing the heterogeneity of aggressive LGL leukemia, the rapidly evolutive disease (multi-organic infiltration) and the absence of randomized trials on large numbers of patients, no consensus on the treatment approach exists. (Table 1)Our patient presented, at the age of 24 yo, with transitory and autonomous resolution of hepatosplenomegaly and pancytopenia. Almost 30 years later, the patient developed a similar and persistent episode, which lead to a diagnosis of aggressive T-cell LGL leukemia. Was this first episode the early and indolent presentation of his T- LGL leukemia or was it only related to an indolent and transitory etiology? Considering the clinical evolution of previously reported case and of our patient, LGL leukemia tends to evolve in many ways; resolution, indolent and chronic or aggressive evolution and transformation into a lymphoma.As the cases retrieved in literature, the diagnosis of our patient was complicated by atypical clinical presentation and unusual pathological findings; massive medullary involvement without real images of intra-sinusal lymphocytosis and atypical T- LGL based on their small-medium size with slightly irregular nuclei and the lack of expression of CD56/CD57.Facing the heterogeneity of treatments attempted for aggressive T-LGL leukemia and their unpredictable response, we believe that the treatments given to our patient were consistent with the current literature and did not add an additional mortality risk (3 cycles of CHOP, 4 cycles of ESHAP, methotrexate, splenectomy).As reported in literature, even though our patient was treated with varying regimens, his disease rapidly evolved into a multi-organic infiltration (skin, lungs, liver, kidney, facial cranial nerves, conus medullaris and bone marrow involvement)Large granular lymphocyte (LGL) leukemia represent a spectrum of indolent and aggressive diseases, whereby an indolent form can evolve into an aggressive form. Aggressive T-cell LGL leukemia are characterized by a multisystem disease, an atypical immunophenotype (CD56-CD57- or CD56+CD57-) and are associated with an uncertainty regarding therapeutics.Our case report of an aggressive T-cell LGL leukemia adds to the few available studies on the subject. DisclosuresPavic:Takeda: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Roche: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; AstraZeneca: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Janssen: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Novartis: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; BMS: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Celgene: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding.

Kawasaki Hastalığı: Olgularımızın Klinik ve Epidemiyolojik Özellikleri

Objective: Our aim was to determine the typical and atypical clinical findings of our cases with Kawasaki Disease (KD). Material and Methods: Patients who were diagnosed as KD between October 2014 and May 2017 were included in the study. The diagnosis of the patients was made according to the criteria of American Heart Association (AHA). Results: Nineteen patients with KD were included. The mean age was 33±20 months. 16 patients (84%) were male and 3 patients (16%) were female. The most frequent seasons were winter (n=6, 31.5%) and autumn (n=6, 31.5%). The most common complaint accompanying the fever was rash in 17 patients (89%). Atypical findings such as purulent conjunctivitis were seen in 2 patients and suppurative lymphadenopathy in 2 patients. As a supportive laboratory finding that is particularly important for the diagnosis in incomplete cases, thrombocytosis was seen in 100% of the patients on the 11.5±2.4th day of fever. The coronary artery involvement rate was high and 47% of the patients were positive. Intravenous immunoglobulin (IVIG) and acetylsalicylic acid (ASA) treatment decreased the dimensions of coronary artery dilatation. Although there was no initial coronary involvement in one of our patients, an aneurysm formation was detected 2 years later. Conclusion: Coronary artery involvement is more common in our country. Atypical manifestations, such as purulent conjunctivitis and suppurative lymphadenitis, may be encountered and can be difficult to distinguish. One must be careful regarding the clinical and supportive laboratory findings in such patients for effective treatment. Genetic and etiological studies should be emphasized in order to elucidate these differences in patients. The follow-up of the patients is very important for the detection of new aneurysms.

Spectrum of magnetic resonance imaging findings in ovarian torsion.

PurposeOvarian torsion is the twisting of the ovary on its vascular pedicle resulting in vascular compromise. Diagnosis of ovarian torsion is challenging in patients who have atypical clinical or ultrasound (US) findings. The objective of our study was to demonstrate the magnetic resonance imaging (MRI) features of ovarian torsion to help radiologists make a conclusive diagnosis when the clinical and US findings are unclear.Material and methodsWe retrospectively reviewed the clinical and MRI features in 10 females with surgically proven ovarian torsion, who had inconclusive clinical, US, or computed tomography findings.ResultsAll patients showed a significantly enlarged ovary with size ranging from 5 to 18 cm. ‘Twisted ovarian pedicle’ sign was seen in seven patients. Eight cases showed areas of haemorrhage within the ovarian stroma. Non-enhancement of ovarian stroma was observed in six patients. Seven patients showed an ipsilateral deviation of the uterus.ConclusionsMRI features of ovarian torsion include ovarian enlargement, twisted ovarian pedicle, ovarian haemorrhage, abnormal ovarian enhancement, and ipsilateral deviation of the uterus. Awareness of these imaging features will enable the radiologist to recognise ovarian torsion and differentiate it reliably from other benign or malignant ovarian lesions.

A CASE OF URETERAL ENDOMETRIOSIS

A 49-year-old woman was admitted to our hospital due to macroscopic hematuria. Contrast-enhanced computed tomography revealed left hydronephrosis, a tumor at her left ureter, pseudoaneurysm and ovarian cystoma. Prior to the operation, the tumorous lesion was considered as left ureteral cancer without metastasis (cT4N0M0; stage IV). Left nephroureterectomy was performed. After the surgery, pathological examination revealed that this lesion was extrinsic endometriosis originating from the ureter.We here report this case of ureteral endometriosis that presented with atypical clinical findings along with a review of the literature.

A Case of Temporal Arteritis Associated with Atypical Clinical Findings

A Case of Temporal Arteritis Associated with Atypical Clinical Findings

Management of a pilomatrixoma with atypical features

In this case we report a 54-year-old man presenting with a large fungating mass that had been identified as a pilomatrixoma on a biopsy from an outside hospital. Based on the atypical clinical and radiographic findings we were concerned that the lesion may have aggressive features and decided to perform a wide local excision with 2 centimeter margins to manage this patient’s risk of recurrence. On surgical pathology, the lesion did have characteristics that were concerning for progression to a pilomatrix carcinoma, however, a definitive invasive component was not identified. This case emphasizes the preferred management in pilomatrixoma with atypical features is a wide local excision.

Histopathology of Explanted Lungs From Patients With a Diagnosis of Pulmonary Sarcoidosis

Pathologic features of end-stage pulmonary sarcoidosis (ESPS) are not well defined; anecdotal reports have suggested that ESPS may mimic usual interstitial pneumonia (UIP). We hypothesized that ESPS has distinct histologic features. Twelve patients who received a diagnosis of pulmonary sarcoidosis and underwent lung transplantation were included. Control subjects were 10 age- and sex-matched lung transplant patients with UIP. Hematoxylin and eosin-stained tissue sections were examined for the following features: extent/pattern of fibrosis; presence and quantity (per 10 high-power fields) of fibroblast foci and granulomas; distribution and morphology of granulomas; and presence and extent of honeycomb change. Extent of fibrosis and honeycomb change in lung parenchyma was scored as follows: 1 = 1% to 25%; 2 = 26% to 50%; 3 = 51% to 75%; 4 = 76% to 100% of lung parenchyma. Eight of 12 cases demonstrated histologic findings typical of ESPS. All showed well-formed granulomas with associated fibrosis distributed in a distinct lymphangitic fashion. Granulomas were present in hilar or mediastinal lymph nodes from six of six patients with ESPS and none of eight control subjects. The extent of fibrosis, honeycomb change, and fibroblast foci was significantly lower in ESPS cases compared with control cases. Two patients with remote histories of sarcoidosis showed histologic features of diseases other than ESPS (UIP and emphysema) without granulomas. Two patients with atypical clinical findings demonstrated nonnecrotizing granulomas combined with either severe chronic venous hypertension or UIP. ESPS and UIP have distinct histopathologic features in the lungs. Patients with a pretransplant diagnosis of sarcoidosis may develop other lung diseases that account for their end-stage fibrosis.

A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome.

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported. We report a case of a 10-year-old Korean boy with atypical clinical findings caused by a novel CLCNKB mutation. The boy showed intermittent muscle cramps with laboratory findings of hypokalemia, severe hypomagnesemia, and nephrocalcinosis. These findings were not fully compatible with those observed in cases of BS or Gitelman syndrome. The CLCNKB mutation analysis revealed a heterozygous c.139G>A transition in exon 13 [p.Gly(GGG)465Glu(GAG)]. This change is not a known mutation; however, the clinical findings and in silico prediction results indicated that it is the underlying cause of his presentation.

Subacute Sclerosing Panencephalitis With Atypical Clinical and MRI Findings

Subacute sclerosing panencephalitis (SSPE) is a progressive inflammatory disorder of the central nervous system and a slow virus infection caused by aberrant measles virus. Typical neurological manifestations include psychomotor impairment, progressive intellectual deterioration, myoclonic jerks and behavioral changes, with or without pyramidal symptoms. It usually affecting people aged 10 to 14 year. We report the case of an 17-year-old girl presenting with initial symptom of visual loss, seizures, a lack of SSPE specific EEG pattern, late onset and atypical fast progression of disease. The case highlights the importance of atypical clinical findings of SSPE at onset and also firstly disappearing, then appearing MRI findings at sequential images which can complicate the accurate diagnosis. High suspicion is needed because of its rareness.

The Surgical Treatment of Trigeminal Neuralgia

Trigeminal Neuralgia is a clinical presentation of different diseases, defined in the last edition of the International Classification of Headache Disorders (ICHD-3) as “Classical Trigeminal Neuralgia” and “Painful Trigeminal Neuropathy”. In both groups typical and atypical clinical findings are present. They must be taking into consideration for defining a correct clinical diagnosis. In addition MRI findings and other objective signs allow to disclose the Etiology of the Trigeminal Neuralgia. The surgical treatment offers many options: open surgery in posterior fossa, neuroablative procedures on the trigeminal nerve, neuromodulation techniques on the trigeminal pathways. Open surgery and neuroablative procedures are the treatments chosen in Classical Trigeminal Neuralgia and in Painful Trigeminal Neuropathy showing pure or prevalent typical clinical findings. Instead in Painful Trigeminal Neuropathy with pure or prevalent atypical clinical findings the neuromodulation techniques are the treatments to be chosen. Looking at the Literature reports and at our own experience, techniques, results, and indications of microvascular decompression, radiofrequency thermocoagulation, glycerol rhizolysis, balloon microcompression, and sterotactic radiosurgery of the trigeminal root are reported and discussed

Pathological confirmation of 4 cases with isolated cortical vein thrombosis previously misdiagnosed as brain tumor.

Isolated cortical vein thrombosis (ICoVT) is a rare form of cerebral venous thrombosis and is easily misdiagnosed as brain tumor due to its atypical clinical presentations and radiological findings similar to brain tumors. The present study focused on 4 patients with ICoVT, 2 men and 2 women. In the 2 male patients, the onset of disease was insidious, with progressive numbness and weakness in limbs as the major symptoms. By contrast, 2 female patients suffered from acute onset of symptoms, presenting with headache and seizures. Brain computed tomography and magnetic resonance imaging showed large hemorrhagic lesions surrounded by massive edemas in the 4 patients. Brain biopsies were performed in the 4 patients due to concern for brain tumors. However, the pathological results supported the diagnosis of ICoVT, and the subsequent anticoagulant treatment administered was effective for all 4 patients. In conclusion, ICoVT can be easily misdiagnosed as brain tumor because of the atypical clinical and imaging features. The results suggested that the possibility of ICoVT always be considered in patients with neuroimaging showing cortical hemorrhagic lesions with massive edemas.

Genitourinary tuberculosis in North America: A rare clinical entity.

Although tuberculosis (TB) is the most common cause of mortality from infectious diseases worldwide, genitourinary TB in North America is rare. We review 3 cases of genitourinary TB diagnosed within the last 5 years. The first case is that of a 76-year-old African-Canadian woman who was referred for percutaneous nephrolithotomy of right lower pole renal stones. Although renal TB was suspected, her initial urinary TB culture was negative. On follow-up imaging, she developed bilateral ureteral thickening and ureteroscopic biopsy confirmed necrotizing granulomata. Repeat urine cultures were positive for M. tuberculosis. The second case is a 73-year-old Italian-Canadian woman who was referred for ureteroscopic biopsy of left thickened ureter to rule out urothelial carcinoma. Initial urine TB cultures were negative, despite biopsies confirming granulomatous inflammation. She was closely followed with urine cytologies and TB cultures. Repeat urine culture was positive for M. tuberculosis. Both patients were treated with a course of anti-tuberculous agents and indwelling ureteral stents to relieve ureteral obstruction. The third case is a 70-year-old Cree woman who was referred for percutaneous nephrolithotomy of a left "staghorn stone" in an atrophic left kidney. Thirty years earlier she had been treated for pulmonary TB in addition to ileocystoplasty for a "thimble" bladder. A computed tomography scan showed autonephrectomized left kidney. Her urine TB cultures were negative. She was placed on prophylactic antibiotics for her recurrent bacterial urinary tract infections. Genitourinary TB may present in various subtle ways, and the astute clinician must have a high index of suspicion for this disease in patients with atypical clinical and radiologic findings. In addition, TB urine cultures should be repeated when there is high index of suspicion.

Study of Scar Recurrence in Incidental Gallbladder Cancer

Incidental gallbladder cancer (IGBC) is defined as GBC diagnosed intra-operatively or after cholecystectomy done for benign gallbladder disease. Laparoscopic cholecystectomy (LC) in patients with GBC has been associated with an increased incidence of peritoneal metastasis and port site recurrences. Similar high incidence of scar site recurrence after open cholecystectomy in IGBC is not a commonly reported phenomenon with only a few anecdotal case reports. Records of all GBC patients registered between 2008 and 2012 were analyzed retrospectively. GBC patients with scar site/port site metastasis were reviewed for their clinical presentation, time elapsed between initial cholecystectomy and presentation with scar site recurrence, radiological imaging, treatment received and disease outcome. Of 337 patients of GBC, 30.56% (n = 103) presented with diagnosis of IGBC. 15/103 cases of IGBC had radiologically and cytologically proven scar site/port site metastasis ([open and laparoscopic cholycystectomy] [n = 11 and 4 respectively]). The most common presenting symptom was gradually increasing subcutaneous swelling at previous operative site and accompanying constant upper abdominal pain. Duration of symptoms varied from 2 to 24 months before medical attention was sought. Of 12 patients with available intra-operative details of previous procedure undertaken, intra-operative gallbladder perforation and spillage was reported in 5 (41%) while partial cholecystectomy was documented in 4 (33%). Patients with disease confined to scar site did marginally better on palliative chemotherapy (median follow-up duration 11 months). The results from this study suggest that scar metastasis after open cholecystectomy in IGBC is not an uncommon phenomenon. Both the radiologists and surgeons should have a high index of suspicion for GBC while reporting or operating benign gallbladder disease especially atypical clinical and ultrasound findings.

Diagnosis and treatment of inflammatory breast cancer

Inflammatory breast cancer (IBC) is a rare disease in clinic, with rapid progression and poor prognosis. It is easy to be misdiagnosed in cases of atypical clinical symptoms and imaging findings. Combined with the medical record of IBC in our hospital, the author explores the causes of misdiagnosis of inflammatory breast cancer, based on clinical manifestations, diagnosis, imaging examination, treatment and so on, so as to improve the clinical physicians understanding and diagnosis of this disease.

Acute Appendicitis: Diagnosis and Treatment, with Special Attention to a Laparoscopic Approach

Acute appendicitis is one of the most common causes of acute abdomen. It may occur from the time of infancy to old age, but the peak age of incidence is in the second and third decades of life. The diagnosis is based on a careful history and physical examination. In patients who have atypical clinical and laboratory findings, US, CT, MRI, a scoring system and laparoscopy can be used. Laparoscopic appendectomy is a safe and effective method for the treatment of appendicitis. It has proven advantages in relation to the open method: less post-operative pain, and a short stay in hospital, quicker recovery and return to normal activities. The causes of unsuccessful procedures vary, and most of the reasons for conversion occur due to the operator's lack of experience. In general, laparoscopic appendectomy has advantages, but it must be borne in mind that surgical experience in laparoscopic techniques is a pre-condition for surgeons to expect clinical benefits from laparoscopic appendectomy. In clinical conditions, where surgical experience is present, and the necessary equipment, the use of laparoscopy and laparoscopic appendectomy may be recommended in all patients with suspected appendicitis, if laparoscopy itself is not contra-indicated or is not feasible.

A Case of Acute Interstitial Pneumonitis With a Very Atypical Clinical Presentation, Radiologic Findings, and Response to Corticosteroid Therapy

A Case of Acute Interstitial Pneumonitis With a Very Atypical Clinical Presentation, Radiologic Findings, and Response to Corticosteroid Therapy

Intracranial hypotension

To illustrate clinical presentations, imaging findings, and diagnostic and therapeutic approaches associated with various conditions of intracranial hypotension. Intracranial hypotension occurs spontaneously, following (lumbar) dural puncture, accidental dural opening, or excessive surgical cerebrospinal fluid drainage. The typical clinical manifestation - orthostatic headache - may be masqueraded by atypical clinical findings, including coma, frontotemporal dementia, leptomeningeal hemosiderosis-associated symptoms, and others. MRI signs are highly specific, but the imaging strategy to search for spinal cerebrospinal fluid leaks (none, computed tomography myelography, magnetic resonance myelography with gadolinium, digital subtraction myelography) is a matter of debate. The same is true for the mode of treatment (bed rest, blind, fluoroscopy or computed tomography-guided epidural blood patching, fibrin patching, surgery). Clinical presentation as well as diagnostic and therapeutic approaches in intracranial hypotension are very heterogenous.

Mucocele of Appendix Vermiformis due to Mucinous Cystadenoma with Carcinoma in Situ Component

Acute appendicitis is one of the most common clinical presentations among the patients with acute abdominal pain. However, a through clinical and surgical evaluation is essential to manage atypical conditions such as carcinoids and the tumors of appendix or mucocele appendix. Here, we present a case with mucocele of appendix vermiformis due to mucinous cystadenoma with carcinoma in situ component. This case indicates that atypical presentations and clinical findings should be carefully managed in the patients with suspicious acute appendicitis in surgery. This is especially essential in the patients with appendiceal mass or mucocele in order to minimize complications.

A Newer Approach to the Management of Membrano Proliferative Glomerulonephritis – Experience from A Tertiary Level Hospital, Bangladesh

DOI: http://dx.doi.org/10.3329/bjch.v37i3.18621 Bangladesh J Child Health 2013; Vol.37(3): 170-174