Supranuclear Palsy & Jaw Closure Dystonia following Ascending Aortic D

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Diagnostic Tests Labs: Imaging: Fig 2 Fig 3 Fig 4 Legend: Fig 2 and 3: MRI Brain showing FLAIR abnormalities Fig 4: MRI Brain: DWI Sequence showing subcortical ischemia Supranuclear Palsy and Jaw Closure Dystonia following Ascending Aortic Dissection Repair Aunali S Khaku, MD; Kenneth M Heilman, MD; Bayard Miller, MD University of Florida Department of Neurology Abstract Supranuclear palsy and jaw closure dystonia are often seen with neurodegenerative disorders; however, we report a 61 year old woman who following aortic dissection surgery developed opthalmoplegia and inability to open her jaw. Serum and CSF acetylcholine receptor antibodies were elevated and the patient was diagnosed with myasthenia gravis and treated with no response. She was subsequently referred to our academic center. Physical exam revealed absent saccadic eye movements with release of oculocephalic reflexes and jaw closure dystonia. Since these signs were noted post surgically, it was posited that this syndrome was not caused by a degenerative disease but may be caused by ischemia. Imaging revealed some evidence of subcortical ischemia. A review of the literature revealed some reports of similar patients. She was referred for Botox injections to relieve the jaw dystonia. Case Report History of Present Illness: 61-year-old right-handed woman who about six months ago, was at work and developed acute onset of chest and jaw pain. She subsequently passed out and was rushed to the hospital. A CTA of the chest showed aortic dissection. She underwent emergent surgical repair of this dissection. Her post-op hospital stay was complicated by ventilator dependent respiratory failure eventually requiring a tracheostomy and PEG-tube. The patient had also been encephalopathic and a CT scan of the head suggested a lacunar infarct, for which a neurology consult was obtained. The encephalopathy was deemed to be secondary to her myriad of concurrent medical problems, and this cleared. She was subsequently discharged to a skilled nursing facility (SNF). After discharge from the SNF, she was seen in the clinic of the consulting neurologist for a chief complaint of trismus and opthalmoplegia. Given the extent of her opthalmoplegia and jaw closure dystonia, she was readmitted to this hospital. She was diagnosed with myasthenia gravis on the basis of moderately elevated acetylcholine antibody titers in the serum and CSF. She received plasmapheresis, pyridostigmine and prednisone, but showed no improvement. She was referred to the University of Florida’s Shands Hospital for further evaluation and treatment. Discussion A supranuclear opthalmoplegia with surgical repair of an ascending aorta dissection has been described and reported: however, there have been no reports of concomitant jaw closure dystonia and the mechanism of this disorder is not known. Repairing an ascending aortic dissection or aneurysm involves clamping off of the major arterial blood supply to the brain. Theoretically, a loss of saccades with preservation of the oculocephalic reflex may be caused by bilateral frontal ischemic lesions (frontal eye fields), but in the absence of other frontal signs or frontal lobe imaging abnormalities this is unlikely. A frontal lobe-subcortical disconnection syndrome with basal ganglia lesions (e.g., globus pallidus) may best explain the co-existence of dystonia and eye movement abnormalities. It is possible that this syndrome is more prevalent that thought with this operative procedure and some of these patients may have received erroneous diagnoses (e.g., myasthenia gravis) or progressive supranuclear palsy (PSP). Educating surgeons, and neurologists about this syndrome, may prompt further research into its etiology, localization, and possible therapy. References Kim HT, Shields S, Bhatia KP, Quinn N: Mov Disord. 2005 Jun;20(6):755-7: Progressive supranuclear palsy-like phenotype associated with bilateral hypoxic-ischemic striopallidal lesions: National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom. Sakiyama Y, Michizono K, Tomari S, Watanabe O, Nakahara K, Takashima H: Rinsho Shinkeigaku. 2011 Jan;51(1):38-42. A case of a syndrome resembling PSP after aortic arch replacement under deep hypothermic circulatory arrest. Department of Neurology, Kagoshima University School of Medicine. Mokri B, Ahlskog JE, Fulgham JR, Matsumoto JY. Neurology. 2004 Mar 23;62(6):971-3: Syndrome resembling PSP after surgical repair of ascending aorta dissection or aneurysm. Department of Neurology, Mayo Clinic, Rochester, MN, USA. bmokri@mayo.edu Acknowledgments Faculty Advisors: Dr. Bayard Miller, and Dr. Kenneth Heilman Librarian: Marsha H. White, MLS, MHSE, CHES, NF/SG VA Physical Exam Examination revealed a supranuclear gaze palsy with complete opthalmoplegia in all directions. Saccadic eye movements were entirely absent in all directions with release of oculocephalic responses in all planes (positive doll’s eye). Her ocular pursuits, except for a flicker of eye movement, were also reduced. She had severe jaw closure dystonia, but absent head thrust maneuver, absent glabellar response, and no ptosis. Pupils were symmetrical and reactive to light. Facial movement was symmetric. She was able to move her tongue to speak despite her tonically clenched jaw. There was no bucco-facial apraxia, and no tone changes. When walking, she tended to turn her head to the left. Forced opening of the jaw led to involuntary tongue bite with bleeding, causing significant distress to the patient. (see figure below and attached videos for physical exam) Figure 1: Supranuclear Palsy with release of oculocephalic reflexes Videos I – V: Segments of videotaped physical exam Clinical Course The patient was admitted for further evaluation, including MRI and a paraneoplastic workup. With the patient's consent, she was a participant in neurology grand rounds. In the discussion that ensued, a literature search revealed a case series describing seven patients with supranuclear gaze palsy and impaired saccadic eye movements that was associated with ascending aortic aneurysm surgery. There were, however, no reports of co-existing dystonia. Whereas her MRI scans were read as normal, upon further review, there may have been patchy signal abnormality adjacent to the anterior limb of the internal capsule bilaterally (see figure). She was counseled that her condition was likely secondary to ischemic injury peri-operatively. She was referred to our movement disorders clinic for Botox injections to relieve the dystonia. Her pyridostigmine and prednisone were tapered and discontinued. Normal: LFT’s, CK, aldolase, B12, folate, ANNA screen, purkinje cell antibody screen, coccidoides antibody, blastomyces antibody, histoplasma antibody, aspergillus antibody, cerruloplasmin, free t3, t4, TPO ab, NMDA Ab, ESR, NDNA, ANA, Tetanus AB, RPR. CSF: clear, colorless, no cells, protein 51 , negative: cryptococcal antigen, VDRL, lyme antibody, whipple’s PCR, and ACE. Abnormal: Serum and CSF acetylcholine receptor antibodies: Serum acetylcholine binding antibody 3.6 (Ref range 0-0.4), acetylcholine biding antibody 16 (Ref range 0-15), Acetylcholine mod antibody indeterminate at 19 (Ref range 0-20). Copper 61 12.7 8.9 40 265 142 3.4 105 34 30 0.73 94