Primary hyperparathyroidism is a disease characterized by excessive production of parathyroid hormone (PTH), which is due to a parathyroid adenoma in 85% of cases. An atypical parathyroid adenoma, with some histopathological features of parathyroid carcinoma, may be found in some of the cases, although it may not fulfill all the criteria for this diagnosis. Neurofibromatosis type 1 (NF1) is an autosomal dominant systemic disease that may be associated with hyperparathyroidism. We report here the rare combination of a patient with NF1 and clinical manifestations of hyperparathyroidism due to an atypical parathyroid adenoma.

O coma mixedematoso (CM) é uma emergência endocrinológica rara, porém letal e consiste na expressão extrema do hipotireoidismo. Relatamos o caso de um paciente do sexo masculino, 51 anos, que abandonou tratamento do hipotireoidismo por 10 meses e evoluiu com sintomas de letargia, edema e intolerância ao frio que culminaram em insuficiência respiratória e coma. Apresentava também diagnóstico prévio de neurofibromatose. O diagnóstico precoce do coma mixedematoso aliado à instituição imediata do tratamento com levotiroxina e ao manejo adequado de complicações, como insuficiência respiratória, choque cardiogênico associado a swinging heart, insuficiências adrenal e renal agudas e sepse, permitiu a evolução favorável do quadro.

Myxedema coma, a rare but fatal emergency, is an extreme expression of hypothyroidism. We describe a 51-year-old male patient who has discontinued hypothyroidism treatment 10 months earlier and developed lethargy, edema, and cold intolerance symptoms. He also had a previous diagnosis of neurofibromatosis. After admission, he progressed to respiratory insufficiency and coma. The prompt recognition of the condition, thyroid hormone replacement, and management of the complications (hypoventilation, cardiogenic shock associated with swinging heart, adrenal and renal insufficiency and sepsis), resulted in a favorable evolution.

Dengue virus is the most important mosquito-borne viral disease in the world. Co-circulation of the four types of dengue viruses and expansion of dengue epidemic gave rise to infection enhancement and a big expansion of clinical aspects of the disease. Herein we report a case of a 25-year-old white woman with dengue fever and numerous associated autoimmune features. Our patient had proteinuria, an extensive right pleural effusion, a thin pericardial effusion and ascites. She had a low C3 level and positive antinuclear antibody; cryoglobulins were also positive. The numerous autoimmune features of this patient were a diagnostic challenge, since she was a young woman and could be easily mistaken for a rheumatologic patient in a newly open disease. Dengue infection probably was a triggering event causing an abnormal immune response. Therefore, dengue should be suspected in patients with hematological disorders and autoimmune features in endemic regions or those who have travelled to those regions.

RESUMO Objetivo: Avaliar a freqüência e o tipo de mutação no gene “trabecular meshwork-induced glucocorticoid response protein” (MYOC/TIGR) entre pacientes com glaucoma primário de ângulo aberto (GPAA) e glaucoma juvenil de ângulo aberto (GJAA). Métodos: DNA genômico foi extraído a partir de sangue periférico de pacientes com GPAA e GJAA. Posteriormente foram realizados PCR e SSCP para identificar possíveis mutações no gene MYOC/TIGR, os quais foram confirmados por meio de análise por sequenciamento. Resultados: Foram estudados dezenove pacientes com GJAA. Oito pacientes (42%) apresentaram uma mutação de ponto no codon 433 (exon 3), ocasionando a substituição de uma cisteína (TGT) por uma arginina (CGT). Entre os pacientes com GPAA (n = 52), foram encontrados dois (3,8%) com mutação no gene MYOC/TIGR. Um deles mostrou uma mutação de ponto no aminoácido 368, substituindo uma glutamina por um codon de terminação e o outro paciente apresentou a mesma mutação observada nos pacientes com GJAA. Conclusão: Identifícou-se uma nova mutação no gene MYOC/ TIGR em pacientes brasileiros com GPAA e GJAA. A ocorrência de mutações no gene MYOC/TIGR em 42% dos pacientes com GJAA assim como em 3,8% dos pacientes com GPAA poderia ser maior, uma vez que o gene não foi estudado em sua totalidade (apenas 400 pb do exon 3).

SUMMARY Purpose: To evaluate the frequency and type of mutation in the trabecular meshwork-induced glucocorticoid response protein (MYOC/TIGR) gene among Brazilian patients with juvenile open angle glaucoma (JOAG) and primary open angle glaucoma (POAG). Methods: The genomic DNA of consecutive patients with POAG and JO AG was extracted from peripheral blood. Subsequently, PCR and SSCP were performed to identify possible mutations in the MYOC/TIGR gene, which were confirmed by sequencing analysis. Results: Nineteen patients with JOAG were studied. Eight patients (42%) showed a single mutation in exon 3 at amino acid 433, which codifies an arginine (CGT) instead of a cysteine (TGT). Among patients with POAG (n = 52), we found two (3.8%) with a mutation in the MYOC/TIGR gene. One of them showed a point mutation at amino acid 368, codifying a stop codon instead of a glutamine. The other patient had the same mutation as those observed in JOAG patients. Conclusion: A new mutation in the MYOC/TIGR gene in Brazilian patients with JOAG and POAG was reported. The ocurrence of mutations in the MYOC/TIGR gene in 42% of Brazilian patients with JOAG as well as in 3.8% of those with POAG could be even higher, since the full gene was not evaluated (only 400 bp of exon 3).