Transverse Myelitis Presenting in a Patient with Hughes-Stovin Syndrome
Hughes-Stovin syndrome (HSS) is a lymphocytic vasculitis defined by the constellation of venous thrombosis and pulmonary artery aneurysms. HSS is thought of as a forme fruste of Behcet's syndrome (BS), with similar histology, but without associated manifestations that characterize BS. HSS does not present with oral and genital ulcers, inflammatory eye disease, skin pathergy, nor the neurological manifestations that can arise with BS. We report the first case of transverse myelitis (TM) in a patient with HSS.
A 38 year old woman developed a deep vein thrombosis in 2009 and 3 years later presented with recurrent hemoptysis. Chest CT-angiogram showed multiple pulmonary artery aneurysms. Lung biopsy revealed a lymphocytic vasculitis making the diagnosis of HSS. Treatment included intravenous (IV) methylprednisolone followed by oral immunosuppressant medications. She remained stable until June 2014 when she developed bilateral leg paresthesias and trouble with her gait. She then developed bilateral hand and leg weakness, diffuse hyper-reflexia, and a thoracic sensory level to pinprick on the right with reduced vibration sense in the left leg. She admitted to medication non-adherence. Magnetic resonance imaging (MRI) of her thoracic spine obtained showed non-enhancing hyperintense lesions on T2 from level T1 to T8. Her symptoms improved with a 5 day course of IV methylprednisolone and then she was prescribed azathioprine. Repeat MRI showed resolution of the thoracic lesions. At follow up she had persistent leg paresthesias and reduced vibratory sense, with full strength.
HSS is a rare disease with no formal diagnostic criteria, characterized by venous thrombosis and multiple pulmonary artery aneurysms. With similar histopathology, it can be thought of as a forme fruste of BS. BS is an autoinflammatory disorder with diagnostic findings in addition to aneurysm formation and thromboses. BS can have neurological manifestations including TM. With non-adherence to immunosuppressants our patient developed a steroid responsive TM. In HSS, the development of any neurological manifestation is atypical. To our knowledge this association has not been previously reported. This case supports the concept of HSS and BS as a spectrum of a unified disorder. A similar pathophysiology seems to underlay the two syndromes and BS may represent a more full phenotype of this pathophysiology with multisystem involvement.
HSS may be a forme fruste of BS. The truncated classic form of HSS can blossom into a disease that involves the central nervous system. Acute management with IV corticosteroids was effective in our case. Adherence to immunosuppressant therapy may prevent such progression. Future case reports of patient's with HSS developing unexpected complications will help further define the full spectrum of the disease.