Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by various abnormalities, such as hypotonia, high body mass index (BMI), craniofacial anomalies, and obstructive sleep apnea. Anesthetic management of these patients requires special perioperative planning and care due to multisystem involvement. Continue reading
Alport syndrome (AS) is a rare hereditary disease, in which there is a defect in type IV collagen, an essential constituent of basal membrane in kidney, ear and eye. This can cause progressive renal damage and eventually renal failure, as well as hearing loss and visual impairment. Definitive treatment, when end stage renal disease (ESRD) has ensued, is renal transplantation. Continue reading
Glycogen storage disease type Ia (GSD-Ia; Von Gierke disease) is an inherited disease caused by glucose-6-phosphatase deficiency. Perioperative management of patients with GSD has important implications for anaesthesiologists due to different system involvements. Continue reading
VACTERL syndrome presents many challenges related to anesthesia management due to multiple congenital malformations that may include vertebral, cardiac, tracheo-esophageal, renal and extremity anomalies. Continue reading
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