Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpa...
Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpa...
Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpa...
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O défice de zinco no lactente pode ocorrer por aumento das necessidades ou diminuição do aporte. A deficiência sintomática transitória de zinco resulta de uma alteração no transportador de zinco a nível da glândula mamária, conduzindo a níveis reduzidos de zinco no leite materno. Lactentes sob aleitamento materno exclusivo apresentam, nestes casos, um défice de aporte. As manifestações clínicas clássicas de déf...
As imunodeficiências primárias são um grupo heterogéneo de doenças individualmente raras. A sua associação a manifestações neurológicas não é rara, sendo os mecanismos fisiopatológicos implicados distintos consoante a patologia em causa. As manifestações neurológicas podem ser a característica predominante da doença ou estar presentes de forma ligeira e/ou inconstante. O correto reconhecimento desta associação ...