Heritable disorders of connective tissue

Outcome of second hematopoietic cell transplantation in Hurler syndrome

“…Intra-operative cardiac arrest due to coronary artery disease has also been described. 36,38 In our study, two patients had peri-operative complications. One patient (UPN 793) developed a bilateral watershed area stroke during minor surgery under general anesthesia.…”

“…Children with HS are at risk of greater peri-operative morbidity, [36][37][38] due to difficult airway visualization, excessive secretions, need for emergency tracheotomy, odontoid hypoplasia with risk of spinal cord morbidity, and higher incidence of post-extubation obstruction. Intra-operative cardiac arrest due to coronary artery disease has also been described.…”

Skin in Osteogenesis Imperfecta

“…10 The major skin features of OI related to collagen loss include thinness, fragility and translucency. 13,14 OI patients are also more likely to bruise secondary to abnormal platelet function secondary to defective release of platelet factor 3 and abnormal aggregation to ADP. 12 Defects in dermal collagen adversely affect recovery from trauma in OI skin.…”

Failure to control the airway in a patient with Hunter's syndrome

“…Abnormal accumulation and deposition of mucopolysaccharides in the tissue of several organs leads to numerous anatomical, musculoskeletal and neurological abnormalities that are known to complicate anaesthetic and airway management (Woolley et al, 1967;Young and Harper, 1982;Baines and Keneally, 1983;Herrick and Rhine, 1988;Zlotogora et al, 1991). The main clinical features associated with Hunter's syndrome are summarized in Table I.…”

“…The anaesthetic complications are related to the organs involved in the disease, but especially appertain to upper airway obstruction problems due to mucopolysaccharide infiltration of the lips, tongue, epiglottis, tonsils and adenoids (Baines and Keneally, 1983;Herrick and Rhine, 1988;Zlotogora et al, 1991). Obstructive and restrictive ventilatory defects result from abnormal laryngeal and tracheal cartilage, copious airway secretions and skeletal deformities involving the vertebrae and the thorax (Woolley et al, 1967;Young and Harper, 1982;Baines and Keneally, 1983). We describe a patient having physical and neurological features consistent with a severe clinical presentation of Hunter's syndrome (MPS II): he died following inability to manage his airway during induction of general anaesthesia for a simple procedure despite pre-induction planning.…”