Anaesthesia and airway management in mucopolysaccharidosis

Abstract This paper provides a detailed overview and dis-cussion of anaesthesia in patients with mucopolysacchari-dosis (MPS), the evaluation of risk factors in these patients and their anaesthetic management, including emergency airway issues. MPS represents a group of rare lysosomal storage disorders associated with an array of clinical mani-festations. The high prevalence of airway obstruction and restrictive pulmonary disease in combination with cardio-vascular manifestations poses a high anaesthetic risk to these patients. Typical anaesthetic problems include airway obstruction after induction or extubation, intubation diffi-culties or failure [can’t intubate, can’t ventilate (CICV)], possible emergency tracheostomy and cardiovascular and cervical spine issues. Because of the high anaesthetic risk, the benefits of a procedure in patients with MPS shoul

Fibrodisplasia ossificante progressiva: relato de caso e achados radiográficos Fibrodysplasia ossificans progressiva: a case report and radiographic findings

A fibrodisplasia ossificante progressiva é uma doença genética rara do tecido conjuntivo, caracterizada por ossificação disseminada em tecidos moles e alterações congênitas das extremidades. Sua transmissão é autossômica dominante, com penetrância completa, mas expressão variável. O início ocorre na infância e o envolvimento progressivo axial e da região proximal dos membros leva a uma conseqüente imobilização e deformação articular. Apresentamos um caso de um paciente de 22 anos de idade, do sexo masculino, com quadro clínico característico de fibrodisplasia ossificante progressiva e discutimos os últimos avanços no diagnóstico e na fisiopatogenia desta entidade.<br>Fibrodysplasia ossificans progressiva is a rare hereditary connective tissue disease characterized by disseminated soft tissue ossification and congenital abnormality of the extremities. It is genetically inherited as a dominant trait with complete penetrance but variable expression. The onset takes place during childhood and the progressive involvement of the spine and proximal extremities leads to immobilization and articular deformity. We report a case of a 22-year-old male patient with typical symptoms of fibrodysplasia ossificans progressiva and discuss the new advances in the diagnosis and pathophysiology