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Pedro Freire1, Teresa Rocha2.

1 - Serviço de Anestesiologia, Centro Hospitalar de Lisboa Ocidental, E.P.E.; 2 - Serviço de Anestesiologia, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, E.P.E.

ESPA - Annual Congress of the European Society for Paediatric Anaesthesiology (Poster).

Introduction: First described in 1930 by Otto Ullrich, the Ullrich Congenital Muscular Dystrophy is a rare and severe congenital muscular dystrophy characterized by axial muscle contractures and distal joint hyperlaxity.
This sclero-atonic muscular dystrophy, as was first called, is part of the spectrum of collagen type VI-related disorders caused by mutations in the genes COL6A1, COL6A2 and COL6A3 on chromosomes 2 and 21.
The morbidity caused by this disease will almost invariably lead the patients to surgery.

Case Report: We describe the perioperative course of a 12-year old patient with Ullrich's syndrome who underwent surgery for scoliosis correction.
Given the progressive scoliosis and limited mobility, the anesthetic management of children affected by this condition may be challenging not only because of the possible difficult airway approach but also because most of these children have severe restrictive lung disease that requires careful ventilation and pre-operative optimization of pulmonary function.
In this case, the patient was admitted to the infirmary one week before surgery for respiratory physiotherapy.
Because of the hyperthermia like syndrome associated with muscular dystrophies, characterized by rhabdomyolysis, volatile anesthetics are to be avoided and we performed a total intra-venous anesthesia to this patient.
The airway was approached with the video-laryngoscope and intubation was achieved at the 2nd attempt.
Reminding the aggressiveness and duration of the surgery an arterial line was placed in the radial artery and three large bore intra-venous accesses were placed.
After the end of the surgical procedure, and because of prolonged time in the prone position, there was a marked edema of facial tissues and the patient was taken to the Intensive Care Unit where he remained sedated and ventilated.

Conclusion: Muscular dystrophies are clinical conditions that require a personalized approach by a differentiated anesthesiologist.
In addition to the common aspects of the muscular dystrophies, the mobility limitation of the patient must be taken into account and difficult intubation must be expected.
Furthermore, the surgical procedure is often associated with considerable blood losses and fluid shifts and hemodynamic instability should be expected and prevented.
The post-operative period should most likely always be in the Intensive Care Unit, not only because of the above mentioned factors but also because the duration of surgery in the prone position results in marked edema of facial soft tissues that may compromise the airway patency in the post-operative period.

Keywords: Ullrich Congenital Muscular Dystrophy, anesthesia, child.