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A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene
Get PDFWe report a neonatal case of systemic pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene (homozygous c.1052+2dupT in intron 3) in which the patient presented with life-threatening hyperkalemia, hyponatremia and metabolic acidosis. It remains uncertain if there is genotype-phenotype correlation, due to the rarity of the disease. This mutation, which to our best knowledge has not been described before, was associated with a very severe phenotype requiring aggressive therapy
Causa rara de doença pericárdica
Get PDFAmong cardiovascular diseases, pericardial disease has specific characteristics. Its etiology, diagnosis and medical management are not as well understood as in coronary and valvular heart disease. In most cases, its cause is benign, although the proportion decreases with more severe clinical presentation. The authors present the case of a 35-year-old man with no relevant past medical history, who went to the emergency department with what appeared to be an idiopathic case of acute pericarditis. However, over the following five months, there was an unfavorable evolution to constrictive pericarditis, requiring pericardiectomy. The final diagnosis was only made following surgery - a rare case of a primary pericardial tumor, a mesothelioma
Spinal infection: state of the art and management algorithm
Get PDFINTRODUCTION:
Spinal infection is a rare pathology although a concerning rising incidence has been observed in recent years. This increase might reflect a progressively more susceptible population but also the availability of increased diagnostic accuracy. Yet, even with improved diagnosis tools and procedures, the delay in diagnosis remains an important issue. This review aims to highlight the importance of a methodological attitude towards accurate and prompt diagnosis using an algorithm to aid on spinal infection management.
METHODS:
Appropriate literature on spinal infection was selected using databases from the US National Library of Medicine and the National Institutes of Health.
RESULTS:
Literature reveals that histopathological analysis of infected tissues is a paramount for diagnosis and must be performed routinely. Antibiotic therapy is transversal to both conservative and surgical approaches and must be initiated after etiological diagnosis. Indications for surgical treatment include neurological deficits or sepsis, spine instability and/or deformity, presence of epidural abscess and upon failure of conservative treatment.
CONCLUSIONS:
A methodological assessment could lead to diagnosis effectiveness of spinal infection. Towards this, we present a management algorithm based on literature finding
Primary spinal glioblastoma: A case report and review of the literature
Get PDFPrimary spinal glioblastoma (GBM) is a rare disease, with an aggressive course and a poor prognosis. We report a case of a 19-year-old male with a 4-week history of progressive weakness in both lower limbs, which progressed to paraparesis with a left predominance and difficulty in initiating urination over a week. Spine magnetic resonance imaging (MRI) showed an intramedullary expansile mass localised between T6 and T11. We performed a laminotomy and laminoplasty between T6 and T11 and the tumour was partially removed. Histopathological study was compatible with GBM. The patient was administered focal spine radiotherapy with chemotherapy with temozolamide. Serial MRI performed after the initial surgery demonstrated enlargement of the enhancing mass from T3 to T12 and subarachnoid metastatic deposits in C2 and C4, the pituitary stalk, interpeduncular cistern, left superior cerebellar peduncle and hydrocephalus. We review the literature with regard to the disease and treatment options, and report the unique features of this case. Primary spinal GBM is an extremely rare entity with a poor prognosis and a short survival time. An aggressive management of the different complications as they arise and improvement of current modes of treatment and new treatment options are required to improve survival and ensure better quality of life
Effect of somatotropin and IGF1 secretion on glucose metabolism: Diabetic ketoacidosis as first manifestation of acromegaly
Get PDFNonsecretory Multiple Myeloma – a diagnostic challenge!
Get PDFThe Nonsecretory Multiple Myeloma is a rare variant (1-5 %) of the classical form of multiple myeloma (MM). Although clinically similar to MM, nonsecretory multiple myeloma is not associated with a monoclonal gammopathy in serum or urine, making it difficult diagnosis this entity.
The authors describe the case of an eighty-year-old man, who was admitted in September 2012 in our hospital, by acute renal failure, low back pain and disorientation. He had been well until approximately 6 months earlier, when he experienced adynamia, asthenia and weight loss (8kg). On examination, he showed no significant alterations except urinary retention requiring catheterization. The analytical study performed pointed out normocytic normochromic anemia (Hb 9.9 g/dl), renal failure and increase of B2 microglobulin (11684). The electrophoresis of serum proteins was normal, as well as urinary light chains and serum. Renal ultrasound was normal. Thoracic-abdominal-pelvic computed tomography (CT) revealed multiple osteolytic metastases, associated to a mass of soft tissue, in pelvis bones and in several vertebral bodies. Following the study of an occult primary tumor, upper and lower endoscopy, bronchofibroscopy with bronchoalveolar lavage, prostate and thyroid ultrasound were performed and showed no changes. The magnetic resonance imaging of the spine revealed multiple infiltrative lesions of the cervical-dorsal-lumbar-sacred vertebrae, pathological fractures of the vertebral bodies of D4, D7 and D9 and a mass of soft tissue/infiltrative component in D12. It also displayed secondary infiltrative lesions of iliac bones and some ribs. The positron emission tomography (PET) showed avidity for 18FDG in iliac and sternal body. The patient underwent CT-guided aspiration biopsy of iliac lesion, which result was negative for neoplastic involvement. This result led to the completion of two additional biopsies directed at D12, both inconclusive. It was instituted systemic corticosteroid therapy and fluid therapy with good clinical outcome, which allowed the patient’s discharge to the outpatients’ department. Five months later, he was re-admitted for low back pain, decreased strength in the lower limbs, worsening of renal function and hypercalcemia. He made a new thoracic-abdominal-pelvic CT scan, which revealed progression of lytic lesions, affecting all bone parts and increasing bone mass on D12, conditioning extensive lysis of the vertebral bodies. Given the exuberance of the lesion on D12 and the consequent damage to adjacent structures, an open biopsy was held and radiotherapy for symptomatic control was initiated. The histological result of the biopsy revealed plasmacytoma/multiple myeloma with restriction of kappa light chains. The patient was referred to the Oncology Service, and started dexamethasone in high doses. The bone biopsy showed 49% of plasmocytes, all with abnormal phenotypic characteristics.
The nonsecretory multiple myeloma is an uncommon entity, with clinical presentation similar to MM, which diagnosis requires histological evidence of plasmocytic infiltration. Limitations inherent to biopsy may delay correct treatment. However, whenever we are faced with an elderly with bone pain, acute renal failure and anemia of unknown etiology, one need to persist in the diagnosis of MM, not forgetting this rare entity that is nonsecretory multiple myeloma