Background: Transverse Myelitis (TM) is an auto-immune syndrome with neural injury to the spinal cord. The TM may be first clinical manifestation of Multiple Sclerosis (MS). It is known that Turners Syndrome (TS) is associated to the presence of autoimmune diseases.
Case Report: A 15-year old female, began with manifestations of loss of strength on the lower limbs evolving rapidly with sensorial loss, tetraparesis and hemodynamic instability, requiring intubation. Two days later she was transferred to the intensive care unit (ICU). The patient had hypothyroidism diagnosed at the age of 2 and TS at age of 11, and had been in use of vitamin D and calcium carbonate, conjugated estrogen, progestogen, levothyroxine, oxandrolone and growth hormone. On examination, she had BMI 29.5, Glasgow 15, flaccid tetraplegia and areflexia. MRI showed extensive hypointense signs on T1 and T2 on the central region of the cervical spine. She was diagnosed with TM and received 7 cycles of plasmapheresis, pulse therapy with methylprednisolone for 5 days followed by Rituximab with partial improvement of the strength and weaning of vasoactive drugs and mechanical ventilation. She was discharged from the ICU 2 months after admission, tracheostomized and bedridden. One month later she was discharged with prednisolone and azathioprine.
Conclusion: TS is associated to the presence of autoimmune diseases (AID), though its association with TM or MS has been rarely reported. Despite the strong association between TS and AID is well known, the underlying immunopathogenic mechanism remains unexplained. Recent studies have displayed that TS patients do not show an excess of immunogenic risk markers. This is evocative for a higher responsibility of X-chromosome abnormalities in the development of AID. Early diagnosis and regular screening for potential associated autoimmune conditions are essential in the medical follow-up of TS patients.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology