Discussion
Pycnodysostosis is a rare genetic disorder associated with short limbs, an obtuse mandibular angle and delayed closure of the cranial sutures. Some individuals also have dental and nail anomalies. Intelligence is usually normal, with only minor psychomotor impairments. These characteristics may make anesthesia management more difficult. (3) Both sexes are equally affected by the disorder. It is caused by mutations in the gene cathepsin K located on chromosome 1, with an estimated prevalence of 1–3 per 1,000,000. (4)
Pycnodysostosis is caused by a gene that was not discovered until 1995 when relevance analysis studies found on chromosome 1q21, which causes a mutation in cathepsin K, a lysosomal cysteine protease that is highly expressed in osteoclasts, leading to osteosclerosis and impaired bone resorption. (5)
Scoliosis, kyphosis, and lumbar hyperlordosis are spine features of pycnodysostosis. (6) Our patient had spine revealed multilevel disc dehydration; multiple disc bulges are identified at multiple levels starting in the cervical and lumbar spine. The most marked changes are seen at the C5-C6 level, where there are left posterior disc bulges causing indentation over the thecal sac with mild narrowing of the central canal (Figure-4). Our patient underwent general anesthesia, though many researchers recommended performing the cesarean section for patients with pycnodysostosis under neuraxial anesthesia. (7)
In summary, we present a case of a pycnodysostosis patient having elective cesarean birth under general anesthesia, who had a cardiac arrest after the operation, resuscitated for 4 days then extubated and shifted to the intensive care unit; later on, she developed Myoclonus jerking impression of the EEG indicative of paroxysmal nonepileptic events and mild-moderate diffuse encephalopathy secondary to sedative medication. Few lower extremity jerks were induced only with stimulation recorded with no EEG correlates. Currently, the patient discharged with CPAP is recommended to follow up with the physiotherapist and psychiatrist.