RESUMEN
We describe an unusual presentation of myeloperoxidase positive antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis managed by a multidisciplinary approach. A 75-year-old man gave a 3-week history of proximal lower limb weakness and exertional myalgia. His serum creatine kinase was normal and many of his non-specific symptoms suggested small vessel vasculitis. His investigations for common causes of muscle weakness were normal, and renal biopsy was normal despite haemoproteinuria. CT scan of the chest identified a pulmonary nodule of uncertain significance, not amenable to biopsy. MR scan of the thighs showed muscle oedema, and muscle biopsy confirmed typical features of vasculitis. Following high-dose corticosteroids his exertional myalgia quickly resolved and his normal mobility returned. Early immunosuppression is essential to improving clinical outcomes in ANCA-associated vasculitis, but diagnostic investigations often lack sensitivity.
Asunto(s)
Vasculitis Asociada a Anticuerpos Citoplasmáticos Antineutrófilos , Peroxidasa , Masculino , Humanos , Anciano , Mialgia , Vasculitis Asociada a Anticuerpos Citoplasmáticos Antineutrófilos/complicaciones , Vasculitis Asociada a Anticuerpos Citoplasmáticos Antineutrófilos/diagnóstico , Anticuerpos Anticitoplasma de NeutrófilosRESUMEN
Protein Tyrosine Phosphatase H1/Protein Tyrosine Phosphatase Non receptor Type 3 (PTPH1/PTPN3) is upregulated and/or mutated in glioma, ovarian, gastric, and colorectal cancers. Previous studies have documented that PTPH1-associated breast cancers exhibit enhanced sensitivity to tamoxifen and tyrosine kinase inhibitors through dephosphorylation of ER and epidermal growth factor receptor, respectively. Owing to the key role that PTPH1 plays as a biomarker in predicting the response of chemotherapeutic drugs and lack of studies on Indian breast cancer patients, the present study investigated PTPH1 protein expression and its relationship to clinical features, ER/PR/HER2/neu statuses, and methylation of promoter in breast cancer tissues (n = 67) among Indian population by immunohistochemistry and methylation specific polymerase chain reaction. PTPH1 expression was upregulated in 58.21% (39/67) and downregulated in the rest of tumor specimens, and it correlated with ER, PR, and HER2/neu statuses with p values of <0.0001, 0.0113, and 0.0448, respectively. Additionally, we found that the 2 kb region upstream of PTPH1 gene harbored CpG sites within, and was ubiquitously methylated in breast cancer (n = 13), colon cancer tissue (n = 1), uterine cancer tissue (n = 1), normal breast tissue (n = 1) in addition to Hela and MCF7 cell lines. In conclusion, our data showed a strong correlation of the PTPH1 status with the ER and ubiquitous nature of PTPH1 promoter methylation at specific CpG sites irrespective of cancer types and protein expression. Our findings underscore the clinical relevance of PTPH1 expression in Indian patients and warrant additional studies to explore the importance of ubiquitously methylated promoter at specific CpG sites in upstream of the PTPH1 gene.
Asunto(s)
Biomarcadores de Tumor/genética , Neoplasias de la Mama/genética , Islas de CpG , Metilación de ADN , Inmunohistoquímica , Reacción en Cadena de la Polimerasa , Regiones Promotoras Genéticas , Proteína Tirosina Fosfatasa no Receptora Tipo 3/genética , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/metabolismo , Neoplasias de la Mama/enzimología , Femenino , Células HeLa , Humanos , India , Células MCF-7 , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Proteína Tirosina Fosfatasa no Receptora Tipo 3/metabolismo , Receptores de Estrógenos/metabolismo , Receptores de Progesterona/metabolismo , Estudios RetrospectivosRESUMEN
Liponeurocytoma is not exclusive to the cerebellar or fourth ventricular location. Since its inclusion in the central nervous system tumor classification in 2000, six cases with similar radiological, histomorphological and immunohistochemical features have also been described in the lateral ventricles. In the present study, we report clinical, radiological and pathological findings of three supratentorial and one cerebellar liponeurocytoma from our records, evaluated with an extensive panel of immunohistochemistry, and review published cases in the literature. The immunohistochemical pattern of supratentorial and infratentorial liponeurocytomas are almost identical, which indicates that these tumors are homologous.
Asunto(s)
Neoplasias Cerebelosas/patología , Lipoma/patología , Neurocitoma/patología , Neoplasias Supratentoriales/patología , Adulto , Neoplasias Cerebelosas/cirugía , Diagnóstico Diferencial , Femenino , Humanos , Técnicas para Inmunoenzimas , Lipoma/cirugía , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Neurocitoma/cirugía , Pronóstico , Neoplasias Supratentoriales/cirugíaRESUMEN
BACKGROUND: Rosai-Dorfman disease (RDD), or sinus histiocytosis with massive lymphadenopathy, is a benign, self-limiting disease. In the majority of cases, there is massive and painless lymphadenopathy in any lymph node group but most commonly in the cervical lymph nodes, associated with constitutional symptoms. Extranodal involvement has been reported to occur in almost every organ system, with or without concomitant nodal disease. The breast is a rare site of presentation of this disease. CASE: A 35-year-old male presented with a hard, nodular swelling in the lower and outer quadrant of the right breast, with a clinical suspicion of malignancy. A diagnosis of sinus histiocytosis with massive lymphadenopathy, or RDD, was offered based on the presence of numerous lymphocytes, plasma cells, a few neutrophils and large histiocytes showing emperipolesis in fine needle aspiration smears. CONCLUSION: Mammary RDD is extremely rare in males. The cytologic features are fairly characteristic and should be considered in the differential diagnosis whenever atypical histiocytes and emperipolesis are encountered in fine needle aspiration smears.
Asunto(s)
Enfermedades de la Mama/patología , Histiocitosis Sinusal/patología , Adulto , Biopsia con Aguja Fina , Neoplasias de la Mama Masculina/patología , Diagnóstico Diferencial , Humanos , Linfoma/patología , Masculino , PronósticoRESUMEN
Despite being common, polyneuropathy remains a diagnostic challenge for most clinicians. Mononeuritis multiplex (MM) refers to involvement of several or many peripheral nerves at the same or different points in time by a disease process. This report describes a case of an atypical presentation of Hansen's disease (HD) as mononeuritis multiplex in the left lower limb with corresponding radiographic, electrodiagnostic, and histopathological data that confirmed pure neuritic leprosy (PNL). We reiterate that although the incidence of PNL is exceedingly low characterized by nerve involvement without the characteristic cutaneous stigmata, leprosy is still the commonest cause of MM in the Indian sub-continent.This report underscores the crucial need for a heightened multi-disciplinary awareness of this "forgotten and uncommon" presentation of PNL. It is imperative that the treating physician should also understand the various neurological presentations, both mimics and chameleons, of this treatable disease to prevent permanent neuropathic injury and disability.
Asunto(s)
Lepra , Mononeuropatías , Enfermedades del Sistema Nervioso Periférico , Humanos , Lepra/diagnóstico , Mononeuropatías/diagnóstico , Mononeuropatías/etiología , Nervios Periféricos , PielRESUMEN
Papillary glioneuronal tumors are newly recognized seizure producing tumors. We report two such cases with immunohistochemical characterization of glial and neuronal components and briefly review literature. Co-localization of glial and neuronal markers was demonstrable on confocal microscopy with expression of stem cell markers (Nestin and CD133) suggesting possible origin from neuroepithelial stem cell with biphenotypic differentiation.
Asunto(s)
Neoplasias Encefálicas/patología , Carcinoma Papilar/patología , Células Madre Neoplásicas/patología , Neuroglía/patología , Neuronas/patología , Antígeno AC133 , Adulto , Antígenos CD/metabolismo , Glicoproteínas/metabolismo , Humanos , Masculino , Meningioma , Persona de Mediana Edad , Proteínas del Tejido Nervioso/metabolismo , Péptidos/metabolismoRESUMEN
A case of Nicolau syndrome (NS) in a 36-year-old adult taking an unusual and devastating hyperacute irreversible paraplegia after an intramuscular injection of benzathine penicillin as a part of routine chemoprophylaxis of her rheumatic heart disease is reported. Although this syndrome is a considerably rare, iatrogenic and underappreciated dermatologic entity, we reiterate in this report, its extracutaneous systemic potential for a catastrophic neurovascular phenomenon and morbidity as well as its possible preventive measures. The apoplectiform onset of T10 flaccid areflexic paraplegia, with the cutaneous hallmark of "embolia cutis medicamentosa" was corroborated by magnetic resonance imaging evidence of centromedullary complete cord involvement from T10 to conus medullaris. Combination therapy with pulse methylprednisolone, low-molecular-weight heparin, and pentoxifylline infusion proved unsuccessful. The skin biopsy and direct immunofluorescence revealed features were consistent with NS with overlap features of leukocytoclastic vasculitis, hitherto not reported. The literature of this preventable and iatrogenic disorder is reviewed, and plausible etiology is discussed.
RESUMEN
Cavernomas are vascular malformations which are collections of endothelium-lined sinusoids without intervening cerebral parenchyma. Hypothalamic location of cavernoma is extremely rare. We present a case of a 34-year-old male who presented with complaints of recent memory loss and vomiting. On magnetic resonance imaging with gradient sequences and contrast, a diagnosis of hypothalamic cavernoma was suggested. Excision of lesion was performed by a right parasagittal pericoronal craniotomy via transcallosal approach. Intraoperative findings and histopathology examination corroborated the diagnosis. The uniqueness of this case report is in the susceptibility-weighted sequence which led to the radiological diagnosis.
RESUMEN
BACKGROUND: Abdominal paracentesis is a routine diagnostic procedure for assessment of patients with recent onset or worsening of ascites. OBJECTIVES: The objective of the study is to (1) review clinically confirmed cases of malignancy with negative, atypical, and suspicious cytology reports and provide reasoning for discrepancies and (2) recalculate sensitivity, specificity, and predictive values after review. MATERIALS AND METHODS: Papanicolaou smears of ascitic fluid paracentesis samples received over one calendar year were reviewed retrospectively by an expert in cytopathology blinded to the final clinical and/or histopathological diagnoses. Cases with discrepancies after review were noted. Sensitivity, specificity, and predictive values were calculated before and after review of slides. Data were analyzed using SPSS version 16. RESULTS: Malignant etiology was identified in 49/115 cases (42.6%) with female genital tract being the most common site of malignancy (22, 44.8%). The remaining 66 (57.4%) had a benign etiology with hepatic cirrhosis in 42 cases (63.6%). A review revealed discrepancies in five cases, three of which were earlier called negative for malignant cells (one case each of ovarian adenocarcinoma, cecal adenocarcinoma, and cholangiocarcinoma). Two cases of ovarian adenocarcinoma that were reported as atypical/reactive mesothelial hyperplasia showed malignant cells upon review. Sensitivity and specificity after review were 69.4% and 100%, respectively, with 100% positive predictive value. CONCLUSION: Being a minimally invasive procedure, abdominal paracentesis continues to be an important diagnostic tool in guiding patient management. A proper morphological assessment with adequate clinical information and correlation with other investigations can be used to arrive at a definitive diagnosis in most cases. The term "atypical" can be misleading and is often used for want of clinical information and is best avoided.
RESUMEN
This is a case report of an 8-year-old boy who developed an atypical, rare subphenotype of autoimmune inflammatory acute juvenile dermatomyositis (JDM), initially masquerading as viral polymyositis (PM)-like presentation, that was complicated by a hitherto unreported fulminant, life-threatening pediatric systemic capillary leak syndrome (SCLS). We highlight the close differential between viral PM and JDM, the baffling clinical syndromic constellation of hypotension with hemoconcentration - a "shock"-like syndrome, hypoalbuminemia without albuminuria, and generalized edema with the atypical JDM presentation, and stress crucial need to implement early aggressive, multipronged immunomodulatory treatment along with intensive fluid resuscitation which saved the life, this patient from a stormy, and turbulent 4-week clinical illness. This is the first published case description in the current literature of the association of an aggressive subphenotype of JDM and life-threatening pediatric SCLS. This report opens the Pandora's Box to explore the genetic and pathomechanisms of both disorders.
RESUMEN
INTRODUCTION: Neoplastic involvement of cerebrospinal fluid (CSF) secondary to known or unknown primaries elsewhere is a poor prognostic factor and is equivalent to stage IV disease. AIM: The aim of the study is to analyse the cytological features of neoplastic meningitis in a tertiary care center. MATERIALS AND METHODS: A retrospective study of 400 consecutive CSF samples was done in the cytology laboratory of our hospital. The fluid obtained by spinal tap was sent for microbiological, biochemical and cytological evaluation. Smears that showed the presence of malignant cells were included in this study. RESULTS: Out of 400 cases, 36 (9%) showed neoplastic meningitis. Of which, 13 cases (36%) revealed leukemic infiltration, 2 (6%) lymphomatous infiltration and 21 (58%) carcinomatous meningitis. The leukemia cases included seven cases of acute lymphoblastic leukemia and six cases of acute myeloid leukemia. Among the carcinomatous meningitis cases, eight were metastasis from carcinoma breast, six from lung carcinoma and one each from malignancies of gallbladder, stomach and retinoblastoma. Four cases were metastatic adenocarcinoma from unknown primary. Pleocytosis was a significant finding seen in 58% cases (n = 21). Elevated protein and hypoglychorrhachia was noted in 68% cases (n = 18). CONCLUSION: A combined diagnostic approach including biochemical, microbiological and pathological evaluation was useful in eliminating infectious meningitis and confirming neoplastic meningitis in these cases. Cytology should be performed on cerebrospinal specimens from all patients with known or suspected malignancy with meningismus. Detection of malignant cells on cytological examination of CSF is the diagnostic gold standard for neoplastic meningitis.
RESUMEN
INTRODUCTION: Leprosy affecting the nerve solely or with concomitant skin lesions is not an uncommon condition in clinical practice. It is responsible for extensive morbidity and often poses a diagnostic challenge. This study aims to highlight the clinicopathological features of Hansen's neuritis (HN). MATERIALS AND METHODS: In this retrospective study, cases of histologically diagnosed HN, from January 2010 to July 2017, were reviewed in the light of clinical features, treatment history, and outcome. RESULTS: There were 18 cases of HN which accounted for 3.97% of total nerve biopsy samples (n = 453) and 0.02% of total histopathology samples (n = 81,013). The male: female ratio was 5:1 in the cases of HN. Age range was 20-79 years with a mean age of 42.4 years (standard deviation: ±14.03). Among the HN cases, there were 13 cases of pure neuritic leprosy (61.1%). Mononeuritis multiplex was the most common finding in the nerve conduction study. Six (33.3%) cases exhibited histological features of borderline tuberculoid leprosy, followed by five (27.8%) cases of mid-borderline features, three (16.7%) cases each of borderline lepromatous and burnt-out HN, and one (5.6%) case of polar tuberculoid leprosy. Lepra bacilli were detected on Fite-Faraco stain in 44.4% cases. CONCLUSION: Diagnosis of HN depends on astute search for skin lesions, nerve thickening or tenderness, sensory or motor symptoms, histopathological examination, and demonstration of lepra bacilli.
RESUMEN
INTRODUCTION: Most important differential diagnosis for microcytosis and hypochromia is beta thalassemia trait (BTT) and iron deficiency anemia. AIM: To study the utility of discriminant functions (DFs) and red cell indices in distinguishing BTT and iron deficiency anemia. METHODS: The study is observational (cross sectional). A total of 350 patients, 43 BTT, and 307 iron-deficiency anemia reflecting actual disease prevalence were included. Their complete red blood cell parameters, hemoglobin A2, and serum ferritin level wherever required were obtained. Receiver operator characteristic curve was drawn for each DF and results compared with other studies. RESULTS: Among the six DFs, the highest sensitivity (97.7%) and specificity (98.6%) was shown, respectively, by Shine and Lal (S and L) and England and Fraser index (E and F) in identifying cases of BTT. Youden index of the Mentzer index (MI) was the highest (69.0) and S and L, the lowest (13.2) indicating MI to be the most efficient and the S and L, the least in differentiating the two entities. Red cell distribution width index (RDWI) showed the highest accuracy (91.6%), whereas S and L showed the least accuracy (29.6%). CONCLUSION: MI was the most efficient in discriminating BTT from iron deficiency anemia (IDA). RDWI stands to be the most accurate. S and L could at best be used as screening tool rather than DF. No study except one agreed with us because convenient sampling used in other studies generated bias in their results. Statistically, this study bears far more relevance than other studies because the sample distribution reflects the prevalence of IDA and BTT in the community.
RESUMEN
INTRODUCTION: Solid Pseudopapillary Neoplasms (SPN) are uncommon pancreatic tumours and are slow growing with uncertain malignant potential, showing female preponderance. Postoperative prognosis is good and metastasis is rare. AIM: To summarise the imaging and pathological features of seven cases of SPN in three years period, from January 2013 to January 2016. MATERIALS AND METHODS: In this retrospective study the imaging features of seven cases on triphasic multidetector Computed Tomogram (CT), a 16-slice scanner, were reviewed along with CT-guided Fine Needle Aspiration Cytology (FNAC) and histopathological examination. Statistics were expressed in terms of percentiles. RESULTS: All cases were female patients with an age range of 13-35 years (mean: 23.3 years). On CT assessment, the size of the tumours varied from 2.5-14 cm (mean: 5.3 cm). All these tumours were well capsulated and round to oval in shape. In four out of seven cases, the tumour was located in the tail of pancreas. All the solid enhancing portions showed moderate enhancement of at least 20-30 HU compared to unenhanced scan, on the other hand the cystic parts remained unenhanced with <5 HU variation in comparison to the plain scan. Histopathological examination exhibited characteristic poorly cohesive cuboidal cells arranged in papillaroid pattern having fine nuclear chromatin with nuclear grooves. CONCLUSION: Solid pseudopapillary neoplasm is a high diagnostic possibility in case of a young female having pancreatic mass and needs to be evaluated with triphasic contrast enhanced CT scan, followed by FNAC and or histopathological examination.
RESUMEN
We present a case of acute silicosis presenting with severe breathlessness and respiratory failure. An unusual aspect in our case was the presence of acute silicosis with respiratory failure in backdrop of long-term silica exposure. The other striking aspect in this case was the demonstration of crystalline silica particles under polarizing light in bronchial lavage fluid sample and coexistence of tuberculosis with acute silicosis.
RESUMEN
Rhabdoid meningioma is an uncommon anaplastic variant of meningioma. We describe the clinicoradiological and histomorphological features of two such cases of meningioma, with a brief review of literature. One case in a 9-year-old girl, presented initially as an atypical meningioma in the right fronto-parietal region, which on recurrence 18 months later, evolved into a rhabdoid meningioma. The second case in a 33-year-old male was located in the right parieto-occipital region.
RESUMEN
Haemoglobin H disease, also known as the alpha-thalassaemia is characterized by the presence of HbH inclusions in red blood cells, detectable on supra-vital stain. We present a case of a previously asymptomatic 31-year-old male, who insidiously developed anaemia and had prominent splenomegaly. Peripheral smear examination revealed microcytic hypochromic anaemia with numerous spherocytes and moderate polychromasia. In reticulocyte preparation with Brilliant cresyl blue, HbH inclusions were mistakenly identified as granulofilamentous reticulum of reticulocytes, giving a spuriously high reticulocyte percentage. After the literature review, repeat assessment was performed and with the aid of high performance liquid chromatography result, it was possible to delineate the HbH inclusions.
RESUMEN
We report a very rare case of seminal vesicle schwannoma in a 50-year-old male, with left hydroureteronephrosis. Only five cases of seminal vesicle schwannomas have been reported in medical literature until date.
RESUMEN
BACKGROUND AND AIM: Inflammatory myofibroblastic tumors (IMFTs) are uncommon neoplasms of the central nervous system (CNS) of intermediate grade biologic potential. Anaplastic lymphoma kinase (ALK-1), a diagnostic marker of anaplastic large cell lymphoma, is also expressed in a subset of IMFTs and appears to have prognostic significance. Though, few studies have evaluated expression of ALK-1 in IMFTs of the CNS. This retrospective study was undertaken to evaluate the expression of ALK-1 expression in IMFT of CNS by immunohistochemistry and correlate with the clinical, radiological and pathologic features. MATERIALS AND METHODS: Five cases diagnosed as IMFT/inflammatory pseudotumour/plasma cell granuloma, diagnosed in CNS over 10 year period (1998-2007) were retrieved from the archives of Department of Neuropathology of a tertiary referral center. The clinical profile and imaging features were collected from the case records. Hematoxylin and eosin stained sections were reviewed with immunohistochemistry for smooth muscle actin (SMA), vimentin, desmin, ALK-1, p53, MIB-1, CD68, leukocyte common antigen, CD3, and CD20. RESULTS: All five cases of IMFTs presented as dural-based space occupying or en-plaque lesions. Histologically, four cases had combined plasma cell granuloma-fibrous histiocytoma morphology, and one had fibrous histiocytoma-like morphology. Immunohistochemically, SMA was strongly positive in spindle cell component of the tumors confirming diagnosis. ALK-1 expression could not be detected by immunohistochemistry in any of the cases. CONCLUSION: Further studies analyzing ALK-1 gene mutation and rearrangements are required to determine pathogenetic role, if any, in CNS IMFTs.