Pycnodysostosis: An Anaesthetic Approach to This Rare Genetic Disorder

Pycnodysostosis (the Toulouse-Lautrec syndrome) is a rare autosomal-recessive disorder of osteoclast dysfunction. This disorder was first described by Maroteaux and Lamy in 1962. We describe anaesthetic management of a 35-year-old female having pyknodysostosis with fracture shaft left femur with anticipated difficult intubation. Therefore, spinal anesthesia was planned for her fracture fixation. The intra- and postoperative period remains uneventful. 1. Introduction Pycodysostosis is a rare autosomal-recessive disorder of osteoclast dysfunction due to mutation of cathepsin K gene [1] causing osteosclerosis. The disease shows equal sex distribution with high parental consanguinity, having an incidence of 1.7 per 1 million births [2, 3]. This disorder is characterized by short stature, increased bone density, short and stubby fingers, fragile bones that may fracture easily, and craniofacial abnormalities caused by delayed suture closure. Patients usually present with frequent fractures even after minor trauma. 2. Case Report A 34-year-old, 45？kg patient having Pycodysostosis was planned for elective femur plating under spinal anesthesia. The patient had past history of spontaneous fractures which were managed conservatively. Her mental and sexual developments were normal. Patient had large protruding tongue (Figure 1) and Mallampati grade IV with a history of snoring. Patient had characteristic short stature, particularly limbs, short broad hands, frontal and occipital bossing, and chest deformities. Radiograph demonstrates increased bone density with hypoplastic clavicle, narrow intervertebral spaces, and bowing long bones (Figure 2). The patient height was 130？cm, upper limb to lower limb ratio was 60/76, and arm span was 128？cm. Patient had no known history of allergy to any drug. Laboratory investigations including serum electrolytes, ECG, and X-ray of chest were within normal limits. Figure 1: Patient with large protruding tongue. Figure 2: X-ray showing bowing of long bones. Inside the operation theatre intravenous access was secured with an 18-gauge cannula, and preloading was done with 500？mL of Ringer’s lactate. Urinary catheterization was done. Monitoring of electrocardiograph, heart rate, SpO2, and NIBP was done. Patient preoperative vitals were within normal limits. Ceftriaxone 1？gm was administered. Under strict aseptic conditions, spinal anesthesia was given at lumber space L2-3 with 26-gauge spinal needle in sitting position. Drug used was 2.5？mL of bupivacaine heavy (0.5%). The patient then positioned supine, and a sensory level up to T12