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Primary intracranial germ cell tumors are rare tumors that often occur in children and young adults. We report a case of a 17-year-old male, who presented with vomiting, headache, and blurring of vision of the left eye on the temporal aspect for two months. His biological assessment showed panhypopituitarism. Serum markers showed elevated beta human chorionic gonadotropin and lactate dehydrogenase. A solid cystic lesion was noted on imaging, involving the sella, parasellar region, and pineal region with calcifications within. Diagnosis of bifocal germinoma was confirmed by tumor biopsy. The treatment protocol for the patient involved four cycles of chemotherapy using etoposide and carboplatin, followed by a course of radiotherapy.
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INTRODUCTION: Cystic echinococcosis, a zoonotic disease caused by the larval form of Echinococcus granulosus, predominantly affects the liver and lungs, with humans acting as accidental hosts. METHODS: Our retrospective study at the Department of Radiology and Imageology, Nizam's Institute of Medical Sciences, included 187 histopathologically or serologically proven cases. The mean age of presentation was 49.4 years. RESULTS: Liver involvement was most prevalent, accounting for 83.4% (n=156) of cases, followed by sporadic involvement of other organs such as the mesentery, spleen, pancreas, thalamus, kidney, lung, spine, and omentum. Characteristic diagnostic features observed on imaging included peripheral calcifications in 33% of cases, internal septations in 25% (n=47), dense calcifications in 15% (n=29), daughter cysts in 6% (n=11), and floating membranes in 5% (n=10). Among hepatic lesions, 90% (n=141) were showing involvement of a single lobe. Notably, 78% (n=110) of lesions were limited to the right lobe, 21% (n=30) to the left lobe, and 1% (n=1) to the caudate lobe. The most affected hepatic segment was segment VIII, while the least common was segment I (caudate lobe). Complications were identified in 13% (n=25) of cases of hepatic hydatidosis. CONCLUSIONS: The findings of our study emphasize the systemic nature of E. granulosus infection which can affect various organs in the body. It also illustrates the invaluable insights imaging provides for timely and accurate diagnosis of hydatid disease.
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Introduction. Chondroblastoma has a wide range of differential diagnosis encompassing various benign and malignant entities. The closest differential diagnosis is giant cell tumor of the bone due to overlapping radiological and histomorphological features. Extensive aneurysmal bone cyst like changes and lack of adequately sampled chondroid matrix often masquerades the primary bone lesion and amplifies the diagnostic difficulty in small biopsies with limited tissue. Immunohistochemistry is helpful in such instances to resolve the diagnostic dilemma. Objectives. To analyze the immunohistochemical expression of anti-histone H3F3K36M antibody inchondroblastoma and validate its utility in differentiating chondroblastoma from its histological mimics. Material and methods. Immunohistochemistry was performed using anti-histone antibody H3.3K36M in 44 histologically diagnosed chondroblastoma and 92 other histological mimickers. All chondroblastoma and giant cell tumor of the bone included in the study were also tested for anti-histone H3.3 G34W antibody. Of the 33 giant cell tumors of bone with classic morphology and imaging findings, 24 H3.3 G34W positive and 9 negative tumors were included intentionally to rule out the possibility of chondroblastoma. The sensitivity, specificity, positive and negative predictive value of marker with regard to chondroblastoma was calculated. Results. Immunohistochemistry revealed unequivocal nuclear positivity for H3.3K36M in the mononuclear cells in all the 44 chondroblastoma tested, denoting a sensitivity of 100% cases. Allthesetumors tested simultaneously for anti-histone H3.3G34W were negative. None of the histological mimickers were positive H3.3K36M indicating a specificity of 100%. The positive and negative predictive value was 100%. Conclusion. H3.3K36M mutant antibody is highly sensitive and specific IHC marker and can be used as a valuable adjunct to distinguish chondroblastoma from its histological mimics especially on small biopsies.
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Neoplasias Óseas , Condroblastoma , Tumor Óseo de Células Gigantes , Humanos , Inmunohistoquímica , Condroblastoma/diagnóstico , Condroblastoma/patología , Neoplasias Óseas/patología , Tumor Óseo de Células Gigantes/diagnóstico , Tumor Óseo de Células Gigantes/patología , Histonas/metabolismoRESUMEN
Fibrocartilaginous mesenchymoma (FM) is a rare bone tumor mimicking other fibrocartilaginous lesions on imaging and histologically. Hence, it is difficult to diagnose this entity especially on small biopsies. In this article, we report a case of FM mimicking desmoplastic fibroma on biopsy. A 36-year-old male presented with pain in the left hip. Imaging showed a large expansile lytic lesion involving the acetabulum and pubis. The differential diagnosis was suggestive of giant cell tumor, aneurysmal bone cyst, intraosseous desmoplastic fibroma, and chondrosarcoma. Biopsy revealed a low-grade spindle cell lesion with no evidence of osteoid or chondroid matrix. The lack of cartilaginous nodules in the biopsy prompted a preoperative diagnosis of desmoplastic fibroma. The excised mass showed bland spindle cell proliferation, benign cartilage nodules, and epiphyseal plate-like enchondral ossification suggestive of fibrocartilaginous mesenchymoma. Negative immunostaining for SATB2, CDK4, and MDM2 ruled out low-grade central osteosarcoma. Though GNAS mutations were not performed in this case, rimming of the bony trabeculae at the periphery of the epiphyseal growth plate-like cartilaginous nodule ruled out fibrous dysplasia. The absence of cartilaginous component misleads the diagnosis preoperatively in small biopsies.
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Neoplasias Óseas , Fibroma Desmoplásico , Mesenquimoma , Masculino , Humanos , Adulto , Mesenquimoma/diagnóstico por imagen , Mesenquimoma/cirugía , Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/cirugía , Huesos/patología , Pelvis/patologíaRESUMEN
Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder in which there is faulty development of the arteries. There is a high incidence of pulmonary hypertension (PH) in these patients, the pathophysiology of which is not fully known. An increase in cardiac output, causing high-output cardiac failure, and increased pulmonary vascular resistance secondary to genetic mutations are the main reasons. We report a 25-year-old male with HHT who presented with right heart failure secondary to PH in whom both the above mechanisms were operating. The coexistence of giant pulmonary arteriovenous malformations with severe PH is a rare scenario influencing management decisions that are discussed. In addition, this patient highlights the classical visceral vascular malformations in this rare disorder.
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Context: The diagnosis of giant cell tumor of bone (GCTB) is difficult in small biopsies with unusual age of presentation, location, and extensive secondary changes. Most of the GCTBs harbor H3F3A G34W mutations with a subset of cases showing alternate G34V, G34R, and G34L mutations. Objectives: To analyze the expression of anti-histone H3.3G34W antibody in different cellular components of GCTB across different locations and presentations (including the unusual ones) and validate the utility of this antibody in the diagnosis of GCTB and differentiate it from the other osteoclast-like giant-cell-rich lesions. Design: Immunohistochemistry was performed using anti-histone H3.3G34W antibody in the diagnosed cases of GCTB (136 cases of GCTB from 133 patients, including two malignant GCTBs) and other giant cell-containing lesions (62 cases). The presence of unequivocal crisp nuclear staining was considered positive. Results: Immunohistochemistry revealed unequivocal nuclear positivity in the mononuclear cells in 87.3% of the cases of GCTB. Of these, most showed diffuse expression with moderate to strong intensity staining. The positive staining was restricted to the nuclei of mononuclear cells with the nuclei of osteoclastic giant cells being distinctly negative. In addition to conventional GCTBs, two cases each of multicentric and malignant GCTB showed positive staining. The other giant-cell containing lesions were distinctly negative. The present study showed a sensitivity of 87.3% with specificity and positive predictive value of 100%. Conclusion: The anti-histone G34W antibody is a highly sensitive and specific marker for the diagnosis of GCTB and differentiating it from its mimics. The positive staining is restricted to the mononuclear cell component of GCTB with sparing the osteoclastic giant cells further reiterating the fact that the mononuclear stromal cells are the true neoplastic component of GCTB.
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Neoplasias Óseas , Tumor Óseo de Células Gigantes , Biomarcadores , Neoplasias Óseas/diagnóstico , Neoplasias Óseas/patología , Tumor Óseo de Células Gigantes/diagnóstico , Tumor Óseo de Células Gigantes/genética , Tumor Óseo de Células Gigantes/patología , Histonas/genética , Humanos , Inmunohistoquímica , MutaciónRESUMEN
INTRODUCTION: PRES, as a complication of juvenile lupus, is rarely reported in the literature. In this study, six juvenile lupus patients admitted with diagnosis of PRES were assessed on the basis of clinical characteristics, imaging findings, disease activity status, treatment response and prognosis. METHODOLOGY: Six juvenile (≤ 16 years) lupus patients with a diagnosis of PRES were included. Demographic, clinical, and laboratory features and outcomes of all six patients were noted. Literature review was performed on PubMed search forum. Search terms in English included Juvenile SLE, Lupus and PRES. RESULT: The youngest patient was seven years old while the oldest was sixteen years. All patients had history of lupus nephritis , presented with seizure and hypertension. In imaging, four out of six patients had hyperintensities in atypical distribution suggesting atypical PRES. All the patients had significant clinical recovery with resolution of hyperintensities in five out of six patients on repeat imaging. CONCLUSION: Juvenile lupus with PRES is considered an unusual neurologic manifestation triggered by multiple factors. It can be stipulated that PRES in juvenile lupus cases often remain undiagnosed. Early suspicion and treatment institution with reversal of triggers can result in a favorable outcome in these patients.
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Hipertensión , Lupus Eritematoso Sistémico , Nefritis Lúpica , Síndrome de Leucoencefalopatía Posterior , Niño , Humanos , Hipertensión/complicaciones , Lupus Eritematoso Sistémico/complicaciones , Nefritis Lúpica/complicaciones , Síndrome de Leucoencefalopatía Posterior/diagnóstico por imagen , Síndrome de Leucoencefalopatía Posterior/etiología , Convulsiones/etiologíaRESUMEN
OBJECTIVE: Bronchiolitis obliterans organizing pneumonia (BOOP) is a clinico-patho-radiological diagnosis which rarely presents as a pulmonary manifestation of lupus. In this concise report, organizing pneumonia was found as the sole pulmonary manifestation of SLE in different age groups. METHOD: All three patients diagnosed with SLE according to SLICC 2012 classification criteria, were admitted in rheumatology ward of NIMS hospital, Hyderabad, India from May to November, 2018. Their diagnosis of BOOP was either biopsy proven or imaging guided. Review of literature was done with MeSH terms (SLE, BOOP) in PubMed and approximately 10 articles were reviewed including latest of 2019 published in Scientific Reports. RESULT: There were three patients - one juvenile lupus and two adults. Two patients were male and one female. All three patients had SLE with high disease activity. They all had organising pneumonia as pulmonary manifestation with other organ involvement. Juvenile patient had a fatal outcome while the others had a good recovery with steroid and immunosuppressive. CONCLUSION: BOOP is a rare pulmonary manifestation in lupus. It can be diagnosed early with more precision using computerised tomography of lung without waiting for biopsy report. This will result in a better prognosis by rapid initiation of corticosteroid and immunosuppressive treatment.
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Neumonía en Organización Criptogénica/complicaciones , Lupus Eritematoso Sistémico/complicaciones , Adolescente , Adulto , Biopsia , Neumonía en Organización Criptogénica/diagnóstico , Neumonía en Organización Criptogénica/tratamiento farmacológico , Resultado Fatal , Femenino , Humanos , Inmunosupresores/uso terapéutico , India , Pulmón/diagnóstico por imagen , Pulmón/patología , Lupus Eritematoso Sistémico/tratamiento farmacológico , Masculino , Esteroides/uso terapéutico , Tomografía Computarizada por Rayos XRESUMEN
Takayasu arteritis which is reported more commonly from Asia and in females can present as middle aortic syndrome with lower limb claudication. We present a case of a young male with Takayasu arteritis with middle aortic syndrome and Winslow pathway collaterals with lower limb ischaemia, hypertension, coronary occlusion and stroke. The extensive collateral formation was visible as a clinical finding over the abdominal wall. The identification of these collateral pathways is essential in understanding the extent of haemodynamically significant disease and it alerts to the possibility of surgical injury during procedures like laparotomy or harvesting of internal thoracic artery for coronary artery bypass graft.
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Oclusión Coronaria , Hipertensión , Accidente Cerebrovascular , Arteritis de Takayasu/complicaciones , Femenino , Humanos , Claudicación Intermitente , Masculino , Arteritis de Takayasu/diagnóstico , Adulto JovenRESUMEN
We present the case of a 48-year-old man who presented with a painless, progressively increasing lump in the left breast. The mammographic and sonographic appearance of the lesion was suspicious for malignancy. Fine needle aspiration cytology and histopathologic examination confirmed the diagnosis of pilomatricoma. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound 46:209-211, 2018.
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Enfermedades del Cabello/diagnóstico por imagen , Enfermedades del Cabello/cirugía , Pilomatrixoma/diagnóstico por imagen , Pilomatrixoma/cirugía , Neoplasias Cutáneas/diagnóstico por imagen , Neoplasias Cutáneas/cirugía , Biopsia con Aguja Fina , Mama/diagnóstico por imagen , Mama/patología , Mama/cirugía , Diagnóstico Diferencial , Enfermedades del Cabello/patología , Humanos , Masculino , Mamografía/métodos , Persona de Mediana Edad , Pilomatrixoma/patología , Neoplasias Cutáneas/patología , Ultrasonografía/métodosRESUMEN
Hydrocoele of the canal of Nuck in an adult female is a rare entity and analogous to hydrocoele in males. Its usual presentation is in children, and its occurrence in adults is very uncommon, more so of the hour-glass variety. We report a case of a 38-year-old woman presenting with a right inguinal swelling of 3-month duration. On physical examination, the swelling was non-tender, cystic and irreducible. There was no cough impulse. Ultrasonography and contrast-enhanced CT revealed a cystic swelling with clear contents in the right inguinal region. Surgery was performed with excision of the cyst. The histopathology report suggested flat mesothelium cells, confirming the diagnosis.
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Quistes/cirugía , Conducto Inguinal/diagnóstico por imagen , Adulto , Medios de Contraste , Quistes/diagnóstico por imagen , Quistes/patología , Diagnóstico Diferencial , Edema/etiología , Femenino , Ingle/patología , Ingle/cirugía , Humanos , Conducto Inguinal/patología , Conducto Inguinal/cirugía , Enfermedades Peritoneales/patología , Enfermedades Peritoneales/cirugía , Tomografía Computarizada por Rayos X , UltrasonografíaRESUMEN
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital abnormality characterised by varying degrees of aplasia or hypoplasia of the uterus and vagina. Very rarely, leiomyomas or adenomyosis can develop in the Müllerian remnant tissue or rudimentary uterus. We present a case of a 43-year-old woman with MRKH syndrome, who presented with primary amenorrhoea and lower abdominal pain. On examination, a large pelvic mass was palpated and a provisional diagnosis of ovarian tumour was made. MRI showed multiple large leiomyomas arising from the Müllerian remnant tissue, and chronic torsion of the right ovary.
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Trastornos del Desarrollo Sexual 46, XX/patología , Anomalías Congénitas/patología , Leiomioma/patología , Conductos Paramesonéfricos/anomalías , Neoplasias Ováricas/patología , Trastornos del Desarrollo Sexual 46, XX/diagnóstico , Trastornos del Desarrollo Sexual 46, XX/cirugía , Dolor Abdominal/diagnóstico , Dolor Abdominal/diagnóstico por imagen , Adulto , Amenorrea/diagnóstico , Amenorrea/diagnóstico por imagen , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/cirugía , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Humanos , Leiomioma/diagnóstico , Leiomioma/cirugía , Imagen por Resonancia Magnética , Conductos Paramesonéfricos/patología , Conductos Paramesonéfricos/cirugía , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/cirugía , Enfermedades Raras , Resultado del Tratamiento , UltrasonografíaRESUMEN
Localized renal cystic disease (LRCD) is a rare benign non-hereditary, non-progressive condition which must be differentiated from other renal cystic diseases. Familiarity with this condition and its characteristic imaging features avoids unnecessary surgical intervention. We report a case of LRCD in a 40-year-old male who presented with left loin pain. Computed tomography demonstrated a cluster of simple cysts in the lower pole of the left kidney with normal right kidney and other organs. Diagnosis of LRCD was made on typical imaging characteristics and absence of family history of cystic renal disease.
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Trichorhinophalangeal syndrome type 1 is a rare skeletal dysplasia of autosomal-dominant inheritance due to defects in the TRPS-1 gene. The syndrome is characterised by sparse slow-growing hair, a bulbous pear-shaped nose, cone-shaped epiphyses and deformities of the interphalangeal joints resembling those in rheumatoid arthritis. We present a case of trichorhinophalangeal syndrome in a 23-year-old man who presented with symmetrical painless progressive deformity of the fingers in both hands.
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Artritis Reumatoide/diagnóstico , Dedos/anomalías , Enfermedades del Cabello/diagnóstico , Síndrome de Langer-Giedion/diagnóstico , Nariz/anomalías , Diagnóstico Diferencial , Progresión de la Enfermedad , Dedos/diagnóstico por imagen , Enfermedades del Cabello/diagnóstico por imagen , Enfermedades del Cabello/rehabilitación , Humanos , Síndrome de Langer-Giedion/diagnóstico por imagen , Síndrome de Langer-Giedion/rehabilitación , Masculino , Nariz/diagnóstico por imagen , Terapia Ocupacional , Radiografía , Dedos del Pie/anomalías , Adulto JovenRESUMEN
Toxoplasmosis is a ubiquitous protozoal infection that during pregnancy commonly affects the fetus severely, with maternal infection usually being mild self-limiting. Disseminated toxoplasmosis in a healthy pregnant woman has, to the best of our knowledge, not been reported before. We present a case of disseminated toxoplasmosis involving pulmonary, central nervous system, and lymph nodes in a pregnant woman and imaging findings on radiography, computed tomography, and magnetic resonance imaging.
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Imagen por Resonancia Magnética/métodos , Complicaciones Parasitarias del Embarazo/diagnóstico por imagen , Complicaciones Parasitarias del Embarazo/patología , Tomografía Computarizada por Rayos X/métodos , Toxoplasmosis/diagnóstico por imagen , Toxoplasmosis/patología , Aborto Espontáneo , Adulto , Antimaláricos/uso terapéutico , Encéfalo/diagnóstico por imagen , Encéfalo/parasitología , Encéfalo/patología , Clindamicina/uso terapéutico , Diagnóstico Diferencial , Femenino , Humanos , Leucovorina/uso terapéutico , Pulmón/diagnóstico por imagen , Pulmón/parasitología , Pulmón/patología , Ganglios Linfáticos/diagnóstico por imagen , Ganglios Linfáticos/parasitología , Ganglios Linfáticos/patología , Embarazo , Complicaciones Parasitarias del Embarazo/tratamiento farmacológico , Pirimetamina/uso terapéutico , Sulfadoxina/uso terapéutico , Toxoplasmosis/tratamiento farmacológicoRESUMEN
Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a clinicoradiological entity with varied aetiologies and having a typical course of evolution. We present a case of MERS evaluated with diffusion-weighted and diffusion tensor imaging along with various conventional sequences of MRI. At the time of presentation, the lesions in the splenium of corpus callosum and bilateral cerebral white matter showed diffusion restriction with reduced apparent diffusion coefficient and no reduction in fractional anisotropy (FA) values on diffusion tensor imaging; on follow-up diffusion restriction completely resolved with normalisation of the apparent diffusion coefficient. The normal to slightly increased FA values in the lesions may indicate that MERS is a non-degenerative disorder.