RESUMEN
We describe an exceptional clinical picture, namely, cognitive impairment of the Alzheimer disease type in a man who later developed manifestations typical of amyotrophic lateral sclerosis and who was subsequently found to have adult polyglucosan body disease (APGBD) upon postmortem neuropathologic explorations. The combined occurrence of amyotrophic lateral sclerosis and cognitive impairment of the Alzheimer disease type in APGBD has not been reported before. This case also underlines the diverse clinical presentation of this rare clinicopathologic entity (namely APGBD) and highlights the importance of recognizing the unusual association of clinical features in making the diagnosis.
Asunto(s)
Enfermedad de Alzheimer/patología , Esclerosis Amiotrófica Lateral/patología , Trastornos del Conocimiento/patología , Glucanos/análisis , Anciano , Enfermedad de Alzheimer/complicaciones , Enfermedad de Alzheimer/diagnóstico , Esclerosis Amiotrófica Lateral/complicaciones , Esclerosis Amiotrófica Lateral/diagnóstico , Trastornos del Conocimiento/complicaciones , Trastornos del Conocimiento/diagnóstico , Glucanos/metabolismo , Humanos , Masculino , Pruebas Neuropsicológicas , FenotipoRESUMEN
Aspergillus sp. are ubiquitous mould infections and in most patients, the source is presumed to be air-borne infections during surgical procedures. Prevention of these infections requires special attention of ventilation systems in operating rooms. Post-operative aspergillosis occurs mainly in immunocompromised patients as well as those who receive corticosteroids temporarily. We report a case of a 71-year-old immunocompromised patient who developed multiple lower limb embolisms due to Aspergillus niger originating from an aortitis of the ascending aorta nine months following coronary artery bypass graft (CABG) surgery.
Asunto(s)
Aortitis/diagnóstico , Aspergilosis/complicaciones , Aspergillus niger , Puente de Arteria Coronaria , Infección Hospitalaria/etiología , Embolia/etiología , Arteria Femoral , Anciano , Aortitis/etiología , Aspergilosis/diagnóstico , Puente de Arteria Coronaria/efectos adversos , Femenino , Humanos , Factores de RiesgoRESUMEN
Hürthle (oxyphilic or oncocytic) cell carcinoma is a variant of follicular cell carcinoma of thyroid. Although this entity of thyroid cancer is well known, its occurrence in young patients has scarcely been reported. We report a case of a 26 year-old male patient, at the time of diagnosis, of Turkish origin, who developed a tracheal, pulmonary and mediastinal metastatic Hürthle cell carcinoma with bilateral cervical and mediastinal lymphadenopathies. This case illustrates an aggressive and metastatic cancer at the time of diagnosis and resistant to all treatment options including surgery, chemotherapy and radioactive iodine.
Asunto(s)
Adenocarcinoma Folicular/secundario , Adenoma Oxifílico/secundario , Neoplasias de la Tiroides/patología , Adenocarcinoma Folicular/patología , Adenoma Oxifílico/patología , Adulto , Humanos , MasculinoRESUMEN
In a case of patient with persistent hypercalcemia after parathyroidectomy, different imaging techniques and particularly 18F-fluorocholine PET/CT are important to localize the adenoma even in a very unusual location.
RESUMEN
Bone granulomas (BGs) due to foreign bodies are a rare condition, especially in children, with only few cases reported in literature. As foreign bodies are not always visible on imaging, BGs can mimic bone tumors. We hereby present a case of a six-year-old boy with histopathologically confirmed BG of his right hand fifth finger due to intraosseous foreign bodies, along with imaging work-up.
RESUMEN
Pheochromocytoma, papillary thyroid carcinoma and hyperparathyroidism have rarely been reported together. Whether this association is coincidental or results from an unknown genetic predisposition is difficult to ascertain. We present the case of a patient who was diagnosed with pheochromocytoma, bilateral papillary thyroid carcinoma and parathyroid hyperplasia with primary hyperparathyroidism. A genetic mutation was hypothesized as the connection between these lesions. Previously described mutations were explored. LEARNING POINTS: Parathyroid hyperplasia, primary hyperparathyroidism and papillary thyroid carcinoma individually are common conditions, but association with each other, although possibly incidental, should trigger genetic testing.Further research is needed to reliably explain the relationship between primary hyperparathyroidism and non-medullary thyroid cancer.
RESUMEN
BACKGROUND: 131-iodine (131I) administration after surgery remains a standard practice in differentiated thyroid cancer (DTC). In 2014, the American Thyroid Association presented new guidelines for the staging and management of DTC, including no systematic 131I in patients at low-risk of recurrence and a reduced 131I activity in intermediate risk.The present study aims at evaluating the rate of response to treatment following this new therapeutic management compared to our previous treatment strategy in patients with DTC of different risks of recurrence. METHODS: Patients treated and followed up for DTC according to the 2014-ATA guidelines (Group 2) were compared to those treated between 2007 and 2014 (Group 1) in terms of general characteristics, risk of recurrence (based on the 2015-ATA recommendations), preparation to 131I administration, cumulative administered 131I activity and response to treatment. RESULTS: In total, 136 patients were included: 78 in Group 1 and 58 in Group 2. The two groups were not statistically different in terms of clinical characteristics nor risk stratification: 42.3% in Group 1 and 31% in Group 2 were classified as low risk, 38.5 and 48.3% as intermediate risk and 19.2 and 20.7% as high risk (P = 0.38). Two patients (one in each group) with distant metastases were excluded from the analysis.Preparation to 131I administration consisted in rhTSH stimulation in 23.4% of the patients in Group 1 and 100% in Group 2 (p < 0.001).131I was administered to 46/77 patients (59.7%) in Group 1 (5 at low risk of recurrence) and 38/57 patients (66.7%) in Group 2 (0 with a low risk). Among the patients treated by 131I, median cumulative activity was significantly higher in Group 1 (3.70GBq [100 mCi] range 1.11-11.1 GBq [30-300 mCi]) than in Group 2 (1.11 GBq [30 mCi], range 1.11-7.4 GBq [30-200 mCi], P < 0.001). Complete response was found in 90.9% in Group 1 vs. 96.5% in Group 2 (P = 0.20). CONCLUSIONS: Using the 2015-ATA evidence-based guidelines for the management of DTC, meaning no 131I administration in low-risk patients, a low activity in intermediate and even high risk patients, and a systematic use of rhTSH stimulation before 131I therapy allowed us to reduce significantly the median administered 131I activity, with a similar rate of complete therapeutic response.
Asunto(s)
Neoplasias Cardíacas , Hemangioma , Tetralogía de Fallot , Humanos , Tetralogía de Fallot/complicaciones , Tetralogía de Fallot/diagnóstico , Tetralogía de Fallot/cirugía , Neoplasias Cardíacas/complicaciones , Neoplasias Cardíacas/diagnóstico , Hemangioma/complicaciones , Hemangioma/diagnósticoRESUMEN
We report a case of a patient presenting with clinical, radiological and endoscopic features of colitis due to a compressive left para-aortic mass. Total open surgical excision was performed, which resulted in complete resolution of colitis. Histopathology and immunohistochemistry revealed benign retroperitoneal schwannoma. These neural sheath tumors rarely occur in the retroperitoneum. They are usually asymptomatic but as they enlarge they may compress adjacent structures, which leads to a wide spectrum of non-specific symptoms, including lumbar pain, headache, secondary hypertension, abdominal pain and renal colicky pain. CT and MR findings show characteristic features, but none are specific. Schwannoma can be isolated sporadic lesions, or associated with schwannomatosis or neurofibromatosis type II (NF2). Although they vary in biological and clinical behavior, their presence is, in nearly every case, due to alterations or absence of the NF2 gene, which is involved in the growth regulation of Schwann cells. Both conditions were excluded by thorough mutation analysis. Diagnosis is based on histopathological examination and immunohistochemistry. Total excision is therapeutic and has a good prognosis. Schwannomatosis and NF2 should be excluded through clinical diagnostic criteria. Genetic testing of NF2 is probably not justified in the presence of a solitary retroperitoneal schwannoma.
Asunto(s)
Colitis/etiología , Neurilemoma/diagnóstico , Neoplasias Retroperitoneales/diagnóstico , Colitis/patología , Colitis/cirugía , Análisis Mutacional de ADN , Diagnóstico Diferencial , Femenino , Regulación Neoplásica de la Expresión Génica , Genes de la Neurofibromatosis 2 , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Mutación , Neurilemoma/complicaciones , Neurilemoma/genética , Neurilemoma/patología , Neurilemoma/cirugía , Neoplasias Retroperitoneales/complicaciones , Neoplasias Retroperitoneales/genética , Neoplasias Retroperitoneales/patología , Neoplasias Retroperitoneales/cirugía , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
Necrotising sarcoid granulomatosis is a rare disease associating sarcoid-like granulomas, vasculitis and necrosis in the lungs and seldom in extrapulmonary locations. We report the case of a 23-year-old woman with an initial symptom consisting of epigastric pain. Oesophagoscopy demonstrated oesophagitis. Evolution was marked by fever, dyspnoea and pulmonary lesions. The first presumptive diagnosis was Wegener disease but biopsies (of the lungs and the oesophagus) demonstrated the diagnosis of necrotising sarcoid granulomatosis. Evolution was favourable under corticoid therapy. Necrotising sarcoid granulomatosis may present as an extrapulmonary disease and is an important differential diagnosis of other disease such as Wegener disease.
Asunto(s)
Esofagitis/diagnóstico , Esófago/patología , Granuloma/diagnóstico , Sarcoidosis/diagnóstico , Adulto , Biopsia , Diagnóstico Diferencial , Disnea/diagnóstico , Disnea/etiología , Esofagitis/etiología , Esofagitis/patología , Femenino , Fiebre/diagnóstico , Fiebre/etiología , Granuloma/etiología , Granulomatosis con Poliangitis/diagnóstico , Humanos , Pulmón/patología , Necrosis , Dolor/diagnóstico , Dolor/etiología , Sarcoidosis/patología , Adulto JovenRESUMEN
Toxic epidermal necrolysis represents an immunologic reaction to a foreign antigen and is most often caused by drugs. Atorvastatin, a blood cholesterol-lowering agent, is a recognized cause of rhabdomyolysis; while naproxen, a widely used nonsteroidal anti-inflammatory drug, is a known cause of photo-induced skin lesions. We report the first fatal case of drug-induced toxic epidermal necrolysis associated with severe muscle necrosis due to the use of a nonsteroidal anti-inflammatory drug and a statin with very high levels of creatine phosphokinase leading to acute kidney injury, disseminated intravascular coagulation, and complete skin necrosis leading to death.