Rhizomelic Chondrodysplasia Punctata and Eye Anesthesia: A case report

2014 
Rhizomelic chondrodysplasia punctata (RCDP) is a rare congenital syndrome that is connected to peroxisomal metabolic disorder. Punctate calcification disorder in epiphyseal cartilage, cataract in both eyes, hypertelorism, saddle-shaped nose, prominent forehead, high-arched palate, kyphoscoliosis, short humerus and femur, hip dislocation, progressive restriction of the joints, and mental retardation are seen. Our patient’s height, weight and head circumference were below the 3rd percentile. These patients undergo eye surgeries for cataract and glaucoma and eye examinations under general anaesthesia. Our patient had received nine times general anaesthesia previously. The most recent 45 days apart had surgery for glaucoma in both eyes and received two more times general anaesthesia. In this case we present our general anaesthesia procedures and the challenges we faced during general anaesthesia. These were difficulty in intubation and finding intravenous access.
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