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.