Marina Pinheiro

Addison's disease - the difficulty of diagnosis

Introduction: Primary adrenal insufficiency is a rare disease, especially in pediatric age. Case report: We report the case of a teenager with astenia with four months’ evolution, causing repeated visits to the emergency department during the previous month due gastrointestinal symptoms and a ten kilograms weight loss. In admission the patient had a reasonable general condition, hydrated and without cutaneous hyperpigmentation. Laboratory results showed hyponatremia, increased levels of corticotropin with normal cortisol levels, increased levels of renin with decreased aldosterone levels and presence of antissuprarrenal antibodies, allowing the diagnosis of autoimmune primary adrenal insufficiency. The boy started treatment with hydrocortisone and fludrocortisone with favorable response. Discussion/conclusions: The diagnosis of Addison’s disease requires a high degree of suspicion due its unspecific symptomatology. This disease often presents gastrointestinal symptoms. Thus, towards a patient with hyponatremia accompanied by constitutional and gastrointestinal symptoms, we must always consider this diagnosis.

DERMATITE ESTREPTOCÓCICA PERIANAL - CASO CLÍNICO

Introducao: A Dermatite Estreptococica Perianal e uma enti- dade bem definida, mas mal conhecida e subdiagnosticada. Tem como agente etiologico mais frequente o Estreptococo β –hemolitico do grupo A (SGA). Atinge principalmente criancas do sexo masculino, entre os 6 meses e os 11 anos de idade. Caso Clinico: Crianca de 5 anos de idade do sexo feminino, previamente saudavel, observada em consulta do Pediatra assistente com queixas de obstipacao, defecacao dolorosa, tenesmo, hematoquesia e prurido anal e vulvar. Tinha sido avaliada anteriormente no SU da area residencia e realizado rastreio de infecao urinaria que foi negativo, aplicacao topica de antimicotico e corticoide (butirato de hidrocortisona) e antiparasitario, sem melhoria. Ao exame objetivo tinha bom estado geral e na regiao perianal apresentava dermatite circular bem delimitada, com intenso rubor e escorrencia anal muco sanguinolenta amarelada. Apresentava lesoes semelhantes na regiao vulvar. Sob suspeita de se tratar de dermatite perianal de origem bacteriana realizou teste rapido de SGA que foi positivo e zaragatoa para microbiologia que se revelou positiva para SGA sensivel a Amoxicilina/Ac clavulânico, que cumpriu durante 10 dias com eficacia. Comentarios: E importante perante uma crianca com erite- ma perianal associado ou nao a dor com a defecacao, exsudado ou prurido, pensar na dermatite estreptococica perianal. O diagnostico e baseado na suspeita clinica e devera ser confirmado com o teste rapido da lesao para pesquisa de SGA. O tratamento devera ser iniciado de imediato e mantido no minimo 10 dias. Embora estejam descritas recidivas em cerca de 40% dos ca- sos, este caso clinico foi de facil resolucao, nao se verificando recidiva ate a data.

Tuberculosis in children: new forms of diagnosis

Introduction: Tuberculosis is still a serious public health problem. To decrease the number of cases of active tuberculosis in populations of low and intermediate incidence, a rapid diagnosis and effective treatment is necessary. The tuberculin test is the recommended method of screening, but there are well-known limitations. Since 2001, the interferon gamma release assays have emerged, being considered useful in the diagnosis of latent infection with Mycobacterium tuberculosis and already widely used in adults. Objectives: Summarize the available information on interferon gamma release assays, particularly with regard to the technique; advantages in the diagnosis of latent infection with Mycobacterium tuberculosis; sensitivity and specificity in the pediatric population; characterization of interfering factors; and their significance of monitoring of tuberculostatic treatment. Development: Interferon gamma release assays are immunoassays that measure Interferon Gamma Release Assays response to Mycobacterium tuberculosis antigens. These tests have been applied in paediatrics population and in regions with different prevalence rates of tuberculosis, in order to compare them with the tuberculin skin test in regard to sensitivity and specificity. Conclusions: Its usefulness as a means of screening in Paediatrics has limitations. Studies are needed at national level to identify how tuberculin skin test and interferon gamma release assays must be articulated. Currently, interferon gamma release assays only complement tuberculin skin test.

Spondylocostal dysostosis: follow-up of two cases

Objetivos: Relatar dois casos de disostose espondilocostal, descrevendo a apresentacao e evolucao clinica dos pacientes.Descricao dos Casos: Apresentam-se dois casos nao relacionados de disostose espondilocostal. O primeiro caso e de um menino com11 anos de idade e o segundo de uma menina com quatro anos. Em ambos os casos, foram evidentes ao nascimento caracteristicas clinicas como tronco e pescoco curtos, escoliose, alteracoes das costelas e anomalias das estruturas sacrococcigeas. O diagnostico clinico foi confirmado nos dois pacientes pelo achado de mutacao em ambos os alelos do gene DLL3. A evolucao clinica foi satisfatoria, sem complicacoes respiratorias ate o momento deste relato.Conclusoes: O termo disostose espondilocostal designa um grupo de alteracoes caracterizado por malformacoes esqueleticas, com anomalias das costelas, como costelas largas, bifurcadas e com fusao assimetrica. Trata-se de uma situacao rara, apesar de sua incidencia e prevalencia exatas nao serem conhecidas. As disostoses espondilocostais podem ser esporadicas ou ter um padrao de heranca familiar, autossomica dominante ou recessiva. Um diagnostico precoce e uma abordagem apropriada sao de extrema importância para orientacao da familia e seguimentoadequado... Aims: To report two cases of spondylocostal dysostosis, describing their clinical presentation and evolution.Cases Description: Two non-related cases of spondylocostal dysostosis are reported. The first case consists of an 11 years old boy, and thesecond case is a girl with four years of age. In both cases, short neck and trunk, scoliosis, rib and sacrococcygeal anomalies were evident atbirth. The clinical diagnosis of spondylocostal dysostosis was confirmed by the finding of a mutation in both alleles of the DLL3 gene. Theirclinical evolution was satisfactory, with no respiratory complications until this report.Conclusions: The spondylocostal dysostosis are a group of disorders characterized by severe skeletal malformations, with rib anomaliessuch as broadening, bifurcation and no symmetric fusion. Although it is known to be a rare situation, its exact incidence or prevalenceis not well established. An early diagnosis and appropriate management are extremely important for adequate family counseling andfollow-up...AIMS: To report two cases of spondylocostal dysostosis, describing their clinical presentation and evolution. CASES DESCRIPTION: Two non-related cases of spondylocostal dysostosis are reported. The first case consists of an 11 years old boy, and the second case is a girl with four years of age. In both cases, short neck and trunk, scoliosis, rib and sacrococcygeal anomalies were evident at birth. The clinical diagnosis of spondylocostal dysostosis was confirmed by the finding of a mutation in both alleles of the DLL3 gene. Their clinical evolution was satisfactory, with no respiratory complications until this report. CONCLUSIONS: The spondylocostal dysostosis are a group of disorders characterized by severe skeletal malformations, with rib anomalies such as broadening, bifurcation and no symmetric fusion. Although it is known to be a rare situation, its exact incidence or prevalence is not well established. An early diagnosis and appropriate management are extremely important for adequate family counseling and follow-up.

Crigler-Najjar syndrome type 2 – an atypical case

Objetivos: Os autores descrevem um caso de sindrome de Crigler-Najjar tipo 2, um disturbio hereditario do metabolismo da bilirrubina, resultante de um deficit parcial da enzima uridino-difosfo-glicuronil-transferase (UDPG T).Descricao do caso: Uma lactente de etnia asiatica foi internada com cinco semanas de vida por ictericia persistente desde o nascimento, com relato materno de agravamento progressivo. Ao exame objetivo apresentava-se ativa, reativa, icterica e com ligeira hipotonia axial. A investigacao complementar mostrou um aumento da bilirrubina total (32,94 mg/dL), com bilirrubina direta de 0,94 mg/dL, e o estudo molecular revelou duas mutacoes em heterozigotia no gene UGT1A1 (c.211G>A e c.1456T>G), resultado compativel com sindrome de Crigler-Najjar tipo 2. Foi submetida a fototerapia intensiva em associacao com quelante dos acidos biliares, com resposta parcial. Apos conhecimento do resultado do estudo molecular iniciou fenobarbital, ocorrendo normalizacao dos valores de bilirrubina apos duas semanas.Conclusoes: A sindrome de Crigler-Najjar tipo 2, embora fenotipicamente semelhante ao tipo 1, tem tratamento e prognostico diferentes. Neste caso, a apresentacao neonatal precoce e os valores de bilirrubina muito elevados, que nao cediam totalmente a fototerapia intensiva, levaram inicialmente a suspeita de sindrome de Crigler-Najjar tipo 1, que e a forma mais grave. Os autores pretendem com este caso alertar para uma causa rara de ictericia, que nao teve a apresentacao tipica. Aims: The authors describe a case of Crigler-Najjar syndrome type 2, an inherited disorder of bilirubin metabolism resulting from a partial deficit of the enzyme uridine- diphospho-glucuronyl transferase (UDPG-T).Case description: A female infant of Asian ethnicity was admitted with five weeks of age by persistent jaundice since birth, with maternal report of progressive worsening. Upon physical examination the patient was active, reactive, and jaundiced, with mild axial hypotonia. Complementary examination showed increase in total bilirubin (32.94 mg/dL), with direct bilirubin of 0.94 mg/dL, and molecular study revealed two heterozygous mutations in the UGT1A1 gene (c.211G>A and c.1456T>G), consistent with Crigler-Najjar syndrome type 2. She was submitted to intensive phototherapy in combination with bile acid chelator, with a partial response. After reading the results of molecular studies, phenobarbital was started, leading to normal levels of bilirubin in two weeks.Conclusions: Crigler-Najjar syndrome type 2, although phenotypically similar to type 1, has different prognosis and treatment. In this case, early neonatal presentation and very high bilirubin values not fully yielded to intensive phototherapy, initially raised the suspicion of Crigler-Najjar syndrome type 1, which is the most severe form of the syndrome. With this report, the authors wish to draw attention to a rare cause of jaundice, which did not have its typical course.AIMS: The authors describe a case of Crigler-Najjar syndrome type 2, an inherited disorder of bilirubin metabolism resulting from a partial deficit of the enzyme uridine- diphospho-glucuronyl transferase (UDPG-T). CASE DESCRIPTION: A female infant of Asian ethnicity was admitted with five weeks of age by persistent jaundice since birth, with maternal report of progressive worsening. Upon physical examination the patient was active, reactive, and jaundiced, with mild axial hypotonia. Complementary examination showed increase in total bilirubin (32.94 mg/dL), with direct bilirubin of 0.94 mg/dL, and molecular study revealed two heterozygous mutations in the UGT1A1 gene (c.211G>A and c.1456T>G), consistent with Crigler-Najjar syndrome type 2. She was submitted to intensive phototherapy in combination with bile acid chelator, with a partial response. After reading the results of molecular studies, phenobarbital was started, leading to normal levels of bilirubin in two weeks. CONCLUSIONS: Crigler-Najjar syndrome type 2, although phenotypically similar to type 1, has different prognosis and treatment. In this case, early neonatal presentation and very high bilirubin values not fully yielded to intensive phototherapy, initially raised the suspicion of Crigler-Najjar syndrome type 1, which is the most severe form of the syndrome. With this report, the authors wish to draw attention to a rare cause of jaundice, which did not have its typical course.