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Systemic hyalinosis and anesthesia - a case report.

Background: Systemic hyalinosis (SH) is a very rare autosomal recessive disease caused by mutations in the ANTXR2 gene and characterized by hyaline deposits in the papillary dermis and other tissues. Clinically, it usually presents at birth or in infancy. Signs and symptoms vary and include pain with movements, progressive joint contractures and motor disability, thickened skin, gingival hypertrophy, papules of the face and neck, skin nodules, hyperpigmented patches over bony prominences, perianal masses and protein- losing enteropathy. Severe cases are associated with death in early childhood (1). The disease can have specific implications during anesthesia, particularly in airway management. Case Report: We present a 3 years old girl, with SH, scheduled for tonsillectomy and adenoidectomy due to repeated upper respiratory infections. She was 93.5 cm tall and 12.2 kg of weight. She had a limited neck retroflection, normal mouth opening, but massive gingival hypertrophy, Mallampati Class 2 airway and multiple joint contractures. Her preoperative evaluation was unremarkable. General anesthesia (GA) with sevoflurane induction, and venipuncture afterwards was performed, supplemented with fentanyl and rocuronium. Two hand face mask ventilation was good. After obtaining Cormack Leanne view 1 with Airtraq videolaringoscope No 1, trachea was intubated with cuffed reinforced endotracheal tube No 3.5. The course of anesthesia and surgery was good. After reversion of neuromuscular block with sugamadex 2 mg/kg, the child was extubated and observed in the post anesthesia care unit. She was discharged home the day after surgery. Few months later the orthopedic correction of knee contractures was performed under GA with the use of the supraglotic airway (I gel No 2) without neuromuscular blockade. Intraoral space was not limited due to prior tonsillectomy. Discussion: The main aspect of SH pertinent to anesthesia is the airway involvement, which can compromise airway management. Various airway devices can be used with difficult airway chart and ENT surgeons on side in case of difficulty. Sugamadex can be safely used to reverse neuromuscular block and facilitate early extubation in the operating room. References: 1. https://www.ncbi.nlm.nih.gov/books/NBK1525/ Learning points: There are no described cases of sugamadex, Airtraq and I gel use in SH patients. With this case report we want to demonstrate the efficacy and safety of this anesthetic approach in a SH.

systemic hyalinosis ; anesthesia ; airway management

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