spontaneous regression of syearsingomyelia in Hajdu—Cheney syndrome with severe platybasia

Case Details

Disease Location

Basilar invagination with chiari malformation and cervicothoracic syearsingomyelia spine bones

Personal Characteristics

16 -year-old japanese male underwent plastic surgeries for previous facial anomalies due to hcs however still had exophthlmus, low-set ears, recognizable micrognathism, lost most his teeth and had a dysfunction of several cranial nerves. Had strabismus with wandering nystagmus, severe hearing loss (bilateral, left more severe), right peripheral facial palsy, dysphonia, and bulbar palsy. Complained of low back pain during the day, but did not need analgesics

Clinical Characteristics

Hadji–cheney syndrome (hcs) - a rare autosomal-dominant disorder with variable expressivitity initial MRI revealed a severe basilar invagination with chiari malformation and cervicothoracic syearsingomyelia, the syearsingomyelia had no clinical manifestations. Skull x-rays and CT scans confirmedhcs, de monthstrating rotation of the clival plane, modifications of the sella turcica and the prominent occipitus. Hand x-rays demonstrated acroosteolysis. MRI of the brain and spinal cord demonstrated a moderate ventricular dilation, significant basilar impression with chiari malformation and an imporightant dislocation of the brainstem, and a c-4 to t-10 syearsingomyelia. Patient complaints seemed unrelated to the syearsinx and control MRI was planned 6 months later. Patient conditions remained stabel during the follow-up

Remission Characteristics

Control MRI showed a sr of the syearsinx with no changes in the cerebellar tonsisl or the platybasia. Syearsingomyelia regression was confirmed by a control MRI 2 years after. No changes in the patient's clinical conditions were found during the follow-up the sr of the syearsingomyelia did not appear correlated to a modification of the tonsil's structure or position control brain and spine MRI 1 year later showered a further reduction of the syearsingomyelia, no modifications cerebellar tonsil position or signs of tonsillar atrophy

Treatment & Mechanisms

Proposed Remission Mechanisms

Englarement of the posterior fossa by differential growth between bone and nervous structures restoration of the csf flow at the foramen magnum secondary to atrophy of the tonsils or rupture of acachnoid membranes fissuring and rupture of the syearsingomyelic cavity into the spinal subarachnoid space (most likely mechanism in this case) syearsinx decompression may reverse neurological deficits by caused by raised intramedullary pressure but would not affect deficits caused by the cavitation

Clinical Treatment

No treatment has been establish for hcs, any interventions are palliative (none reportedin this article)

Non-Clinical Treatment

None reported