Congenital patellar dislocation is a rare condition in which the patella is permanently dislocated and cannot be reduced manually. The patella develops normally as a sesamoid bone of the femur. This congenital dislocation results from failure of the internal rotation of the myotome that forms the femur, quadriceps muscle and extensor apparatus. It usually manifests immediately after birth, although in some rare cases, the diagnosis may be delayed until adolescence or adulthood. Early diagnosis is important, thereby allowing surgical correction and avoiding late sequelae, including early degenerative changes in the knee. A case of permanent dislocation of the patella is presented here, in a female child aged seven years.

informação sobre o artigo Historial do artigo: Recebido a 3 de março de 2015 Aceite a 7 de abril de 2016 On-line a xxx Palavras-chave: Hipercaliemia Hiperpigmentaç ão Hiponatremia Insuficiência suprarrenal primária Tuberculose r e s u m o A insuficiência suprarrenal primária (ISRP) é relativamente rara na infância e adolescência.Apresenta-se o caso de um adolescente, com 16 anos, internado por dor abdominal, astenia, perda de peso, náuseas, vómitos ocasionais, tonturas e hiponatremia/hipercaliemia, com história de tuberculose pulmonar no pai há 15 anos. Ao exame objetivo tinha hiperpigmentaç ão da pele e mucosas, hipotensão postural e aspeto emagrecido sem sinais de desidrataç ão. O estudo analítico confirmou o diagnóstico de ISRP. A avaliaç ão imagiológica em conjunto com o teste tuberculínico e os testes interferon-gamma release assay (IGRA) sugeriram um processso crónico de origem tuberculosa.O diagnóstico de insuficiência suprarrenal, embora relativamente simples, só é possível se o médico mantiver um elevado índice de suspeiç ão. A tuberculose, sendo uma causa rara nos países desenvolvidos, não pode ser esquecida na populaç ão portuguesa. a b s t r a c tPrimary adrenal insufficiency is rare in childhood and adolescence. Is presented a case of a teenage boy, sixteen years old, admitted in the sequence of abdominal pain, asthenia, weight loss, nauseas, occasional vomiting, dizziness and hyponatremia/hyperkalemia, with a family history of tuberculosis that affected his father 15 years ago. In the clinical examination he had mucocutaneous hyperpigmentation, postural hypotension and emaciated appearance with no signs of dehydration. Analytical study confirmed the diagnosis of primary adrenal insufficiency. Imaging evaluation and tuberculin skin test and IGRA (interferon-gamma release assay) suggested a chronic process of mycobacterial origin.Diagnosis of adrenal insufficiency, although quite simple, is only possible if the physician keeps a high index of suspicion. Tuberculosis, a rare cause in developed countries, cannot be forgotten in the Portuguese population. © 2016 Sociedade Portuguesa de Endocrinologia, Diabetes e Metabolismo. Published by Elsevier España, S.L.U. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). Introduç ãoA insuficiência suprarrenal primária (ISRP) é uma patologia rara com uma prevalência estimada de 0,93-1,40 e uma incidên-cia de 0,047-0,062 por 10.000 habitantes, na Europa ocidental 1 . * Autor para correspondência.Correio eletrónico: margaridareismorais@sapo.pt (M. Reis Morais).Não existem estudos significativos de prevalência na idade pediá-trica e para muitos autores é uma entidade que poderá estar subdiagnosticada 2 .Define-se insuficiência suprarrenal (ISR) pela incapacidade da glândula em manter uma secreç ão hormonal adequada não só em situaç ão basal, mas também em situaç ões de stress. Quando o defeito reside na própria glândula, a ISR é classificada em primá-ria. Se a causa for hipofisária (défice de adrenocortico...

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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.