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1.
BMC Neurol ; 19(1): 304, 2019 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-31783737

RESUMO

BACKGROUND: Paraneoplastic limbic encephalitis (PLE) is a rare autoimmune neurological syndrome observed in cancer patients. PLE is difficult to diagnose and presents a variable response to treatment, depending on the characteristics of the tumor and neuronal autoantibodies. CASE PRESENTATION: A 64-year-old, Caucasian, non-smoker man presented with a rapidly developing cognitive impairment, personality change, spatial disorientation, and short-term memory loss associated with anorexia and cervical and inguinal lymph nodes. The 18F-FDG PET scan documented intensely hypermetabolic lymph nodes, which histologically corresponded to a metastasis from a small cell neuroendocrine carcinoma. The brain MRI revealed a high T2-weighted FLAIR signal of the hippocamps, consisted with a PLE. The presence of anti-neuronal Hu antibodies confirmed the diagnosis. The patient underwent plasmapheresis, associated to a systemic chemotherapy resulting in a partial and temporary improvement of the neurological symptoms. Four cycles of intravenous immunoglobulins were also necessary. After six cures of chemotherapy, the lymph node metastases regressed. However, a new anorectal lesion was detected and was histologically confirmed as a primary small cell neuroendocrine carcinoma, which was treated with concomitant chemoradiotherapy. At the end of this treatment, the patient showed a rapid tumor progression leading to his death. CONCLUSIONS: This case highlights the rare entity, PLE, which is difficult to diagnose and manage. In addition, this is the first published case of PLE associated with an anorectal small cell neuroendocrine carcinoma, which appeared after completion of systemic chemotherapy.


Assuntos
Carcinoma Neuroendócrino/diagnóstico , Carcinoma de Células Pequenas/diagnóstico , Encefalite Límbica/diagnóstico , Autoanticorpos , Fluordesoxiglucose F18 , Hipocampo/patologia , Humanos , Encefalite Límbica/imunologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons
3.
Case Rep Nephrol Dial ; 13(1): 113-119, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37900922

RESUMO

We present the case of a 17-year-old Caucasian male whose condition featured acute renal failure, anemia, and deep thrombocytopenia after five consecutive days of diarrhea. Campylobacter coli was identified in stool cultures and, although the direct role of this germ in the pathogenesis of hemolytic uremic syndrome (HUS) remains uncertain to this day, initial presentation was considered broadly consistent with typical HUS. However, the patient showed no signs of spontaneous recovery over time. While secondary investigations showed no abnormalities in ADAMTS13 activity or in the alternate pathway of complement, patient's condition deteriorated. Worsening kidney failure required emergency renal replacement therapy and was followed by cardiac involvement in the form of acute heart failure. Given this unfavorable development, blood samples were drawn to look for mutations in the alternate complement pathway, and eculizumab therapy was initiated without further delay, allowing prompt improvement of cardiac function and recovery of diuresis. Upon discharge, the patient still had to undergo intermittent dialysis, which would later be withdrawn. Genetic analysis ultimately confirmed the presence of a complement factor H mutation associated with a high risk of disease recurrence, indicating long-term continuation of eculizumab therapy.

4.
Nephrol Ther ; 17(6): 466-472, 2021 Oct.
Artigo em Francês | MEDLINE | ID: mdl-33994136

RESUMO

We describe here the case report of a young man of 34-years old suffering from a haemorrhagic rectocolitis and presenting with marked hypophosphatemia secondary to an infusion of ferric-carboxymaltose. The renal phosphate wasting was asserted by a very low renal maximal reabsorption rate of phosphate associated with a high plasma FGF-23 level. Three months later we explored the patient and his father since we learnt that both of them had suffered from kidney stones for years with marked hypercalciuria. Kidney stones were composed of weddellite and carbapatite. We suspected a familial phosphate renal wasting syndrome but however no mutation of the renal phosphate carriers could be identified.


Assuntos
Hipofosfatemia , Cálculos Renais , Adulto , Fator de Crescimento de Fibroblastos 23 , Humanos , Hipofosfatemia/diagnóstico , Hipofosfatemia/etiologia , Rim , Mutação , Fosfatos
5.
Nephrol Ther ; 15(2): 115-119, 2019 Apr.
Artigo em Francês | MEDLINE | ID: mdl-30808555

RESUMO

Renal hemosiderosis is a rare cause of acute kidney injury, but it can also lead to chronic kidney failure. We report here the case of a 73-year-old patient with acute kidney caused by a massive hemosiderosis following the proximal disinsertion of a prosthesis of the ascendant aorta with chronic aortic dissection. The kidney biopsy revealed the diagnosis, showing massive iron deposits inside the proximal tubules, especially with Perls staining and also diffuse hematic casts in the lumen of the tubules. Pathophysiology of hemosiderosis is well described, as well as protective mechanisms. This case report is one of the numerous different causes of renal hemosiderosis that can be related to genetic, infectious or mechanical hemolysis.


Assuntos
Injúria Renal Aguda/etiologia , Próteses Valvulares Cardíacas/efeitos adversos , Hemólise , Hemossiderose/complicações , Idoso , Hemossiderose/etiologia , Humanos , Masculino
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