Contextual anaesthesia for a rare case of pycnodysostosis with myriad presentation: a case report

Abstract

Abstract Background Pycnodysostosis is a rare inherited syndrome characterized by classical craniofacial defects and diffuse osteosclerosis disorder of bones with tendency for fractures after minor trauma. We describe the anaesthetic management of a parturient with pycnodysostosis with dual concerns of precious pregnancy and a fractured femur. Case presentation A 33-year-old primigravida with 31 weeks of gestation presented with subtrochanteric fracture of left femur. Clinico-radiological features of diffuse osteosclerosis suggested a diagnosis of pycnodysostosis, which was confirmed by genetic testing. We encountered challenges for sequential surgeries of lower segment caesarean section, surgical fixation of the fractured femur and surgical wound debridement in this patient in view of a difficult airway, short stature, physiological changes of pregnancy, difficulties in positioning and possibility of increased blood loss. A combination of general anaesthesia with either neuraxial anaesthesia or regional block was performed, which helped in the safe management of this syndromic patient. Conclusions Multidisciplinary team dynamics, communication and expertise played a crucial role in the successful care of the patient. Planning anaesthesia contextually for each surgical setting was vital. Anaesthetic gadgets like fibre-optic bronchoscope and ultrasound were a boon to anaesthesiologist at every surgical procedure to aid the anaesthetic plan.