We report the use of a genetic test for therapeutic decision making in a case of primary hyperparathyroidism associated with Cushing's disease (CD). A 20-year-old woman was evaluated for gradual weight gain, asthenia, muscle pain, and hypertension. Biochemical and radiologic tests confirmed CD and she underwent transsphenoidal surgery. Immunohistochemistry of the microadenoma was positive for adrenocorticotropic hormone (ACTH). On follow-up, hypercalcemia with high parathyroid hormone (PTH) levels was detected, associated with nephrolithiasis and low bone mineral density in the spine and hip. Parathyroid scintigraphy showed tracer uptake in the inferior region of the left thyroid lobe, and cervical ultrasound showed a heterogeneous nodule in the same area, suggestive of a parathyroid adenoma (PA). Genetic testing detected mutation in the MEN 1 gene and total parathyroidectomy with the implantation of a fragment of one gland in the forearm was performed. Pathology showed a PA and 3 normal parathyroid glands, without hyperplasia, despite the diagnosis of MEN 1. This case illustrates the role of genetic testing in defining the therapeutic approach for sporadic MEN 1.
-Objective: To present the imaging findings of a patient with diffuse brain injury secondary to intoxication with oral hypoglycemics. Case re p o rt: A nine years-old boy presented with generalized tonic-clonic convulsions and decreased consciousness. Laboratory investigation demonstrated blood glucose level of 21 mg/dL. The magnetic resonance imaging showed cortical and subcortical temporo -p a r i e t o -o c c i pital areas of high signal on T2 and low signal on T1, with high signal on the diffusion-weighted images and low signal on apparent diffusion coefficient maps. Conclusion: C o rtical and subcortical temporal, parietal and occipital ischemic lesions may be seen in patients with intoxication by oral hypoglycemics.KEY WORDS: magnetic resonance imaging, diffusion weighted imaging, hypoglycemia.Intoxicação com hipoglicemiante oral como causa de lesão cerebral difusa: relato de caso RESUMO -Objetivo: Apresentar os achados de imagem em um caso de lesão cerebral difusa secundária a intoxicação por hipoglicemiante oral. Relato do caso: Menino de nove anos de idade apresentando crises convulsivas tônico-clônicas e rebaixamento do nível de consciência. Exames laboratoriais revelaram glicose sérica de 21 mg/dL. O exame de ressonância magnética revelou lesões corticais e subcorticais têmporo -parieto-occipitais, com alto sinal em T2 e baixo em T1, apresentando hipersinal nas imagens ponderadas em difusão e hipossinal nos mapas de coeficiente aparente de difusão. Conclusão: Lesões isquêmicas corticais e subcorticais nos lobos temporais, parietais e occipitais podem ser identificadas em pacientes com intoxicação por hipoglicemiantes orais. PALAVRAS-CHAVE: ressonância magnética, imagens ponderadas em difusão, hipoglicemia. D i ffuse brain injury are caused by several disorders, such as hypoglycemia. In addition, diff e rent conditions may cause hypoglycemia. In neonates, the most common causes are maladaptive metabolic adjustments in the transition intrauterine to extra uterine life, intrauterine under nutrition, and primary enzymatic or metabolic endocrine abnormalities. Considering another ages, exogenous intoxication and hypoxic-ischemic disorders are the causes of hypoglycemia most frequently demonstrated 1 , 2 . The histopathological findings seen in patients with transient hypoglycemia and diffuse brain injury have been documented. However, there are only a few studies s t ressing the imaging findings in these patients 1 -4 . Barkovich et al. 2 , reviewed the imaging findings of five patients with transient neonatal hypoglycemia. The most common feature was diffuse cortical and s u b c o rtical white matter damage, with the parietal and occipital lobes being affected more severe l y. Globus pallidus injury was seen only in one patient, who had the most severe cortical injury. The diff usion-weighted image (DWI) is a neuroimaging technique that evaluates the water movement, detecting the tissue injury as in acute cerebral damages. Singhal et al.5 demonstrated the DWI features in t h ree patients ...
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