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Introduction: Clear cell renal cell carcinoma is the most frequent type of renal cell carcinoma, which is often diagnosed incidentally in an advanced stage. Case History: We present the case of a 49-year-old man who presented to the emergency department with no specific symptoms. After computed tomography (CT) evaluation, the suspicion was raised of a left renal tumour. The aim of this case study is to underline the importance of rapid diagnosis and further investigation of clear cell renal cell carcinoma and the severity of this type of cancer. Conclusions: Clear cell renal cell carcinoma has no specific symptoms. For the complete diagnosis and further monitoring, the use of CT is necessary. Teaching Point: Clear cell renal cell carcinoma treated with partial nephrectomy can relapse near the surgical scar and progress with metachronous bilateral adrenal metastases, especially when close follow-up is not performed due to the pandemic situation.
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McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations. He had also been feeling pain in the right femur since he was younger, without any trauma history, leading to difficulties of ambulation and limping occasionally. His physical examination revealed café-au-lait spots with irregular borders and right testicular agenesis. Laboratory findings identified hyperthyroidism with hyperparathyroidism. Radiographs of the pelvis revealed multiple lytic lesions of the right femur and magnetic resonance imaging (MRI) characterized these lesions as specific to fibrous dysplasia of the bone, without any insufficiency fracture at this level. The association of café-au-lait skin spots with bone fibrous dysplasia, and hyperthyroidism in this patient suggested the diagnosis of McCune - Albright syndrome.
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Hemimegalencephaly on magnetic resonance imaging scan (MRI) consists of cortical gray matter almost uniformly abnormal, areas of increased thickness of the cortical gray matter (GM), abnormal gyral patterns, blurring of the grey-white matter transition, atrophy or hemispheric hypertrophy, demyelination, gliosis. We present a case of ten-year-old boy with a history of infantile spasms and developmental delay who presented to the pediatric neurology room with an episode of disinhibited behavior in family environment. An MRI was performed and isolated hemimegalencephaly with polymicrogyria of the right occipital lobe was diagnosed.
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Phakomatoses are a group of more than 30 entities with an inheritance pattern that primarily affects the central nervous system, skin, viscera and connective tissue. The aim of this paper is to make an educational review of the most common radiological findings on phakomatoses through the iconography of the cases collected in our magnetic resonance imaging (MRI) and computer tomography (CT) units over the last ten years. Also, we describe and illustrate by these techniques the main features of the most common entities within the wide spectrum of diseases. As highly variable and age dependent, imaging techniques have an important role in the diagnosis and follow-up of these patients. Increased awareness for the need to implement and conduct screening programs could be considered as a solution to prevent late diagnosis and to treat the patients in early stages of disease.
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Epidural abscess in infancy is very rare and has non-specific features, requiring very careful attention and early diagnosis. We present a case of a 3-month-old girl in which the diagnosis of spontaneous cervical epidural abscess developed after an initial episode of acute enterocolitis and was subsequently identified at a later visit to the emergency department for right-upper extremity hypotonia. Endoscopy revealed slightly domed retro pharynx and magnetic resonance imaging (MRI) scan showed cervical spondylodiscitis at the level of intervertebral disc C5-C6 with right-sided epidural abscess that compressed the spinal cord and right C6 nerve root, without extension into superior mediastinum. The systemic antibiotic treatment with meropenem and clindamycin solved the symptoms but the spondylodiscitis complicated with vertebral body fusion which can be symptomatic or not in the future and needs follow-up. Cervical spontaneous spondylodiscitis with abscess is very rare, especially in this age group. This case emphasizes the importance of investigating an upper extremity motor deficiency in infancy and diagnosing any potential spondylodiscitis complication.
