A man aged 33 years was taken to the hospital after colliding with a car while riding his moped. There had been no loss of consciousness. There were no abnormal neurological findings. A CT brain scan was normal, and he was discharged after 6 h. The same night, he became confused, unable to see clearly, unsteady, and vomiting. He was brought back to the hospital but discharged again after a few hours. He was admitted 4 days later with increasingly aggressive behavior and numbness and weakness down his left side. A T9 compression fracture was treated with a brace. In the hospital, 7 days following the accident, he began to develop tics, first as minor oral movements, progressing over a matter of days to substantial vocal and motor spasms, the latter affecting his head, neck, trunk, and upper limbs. He also complained of headaches, visual disturbances, slurred speech, word-finding difficulties, and short-term memory impairment. Brain MRI was normal, and he was discharged.
When examined at our institution 2 months later, he was virtually housebound with a florid syndrome of tics and involuntary vocalizations. Abnormal movements included a stammer, humming, facial grimacing, and shoulder shrugging. Vocalizations involved clang associations "tick tock, rock rock" and repeated profanities. All were suppressible for short periods at the expense of extreme discomfort and emotional upset. All were exacerbated by anxiety and partially relieved by distraction. He was walking on crutches. MRIs of the brain and spine were unremarkable. There was no family history of Tourette syndrome.
Over the next 3 years, his tics were undiminished. There were no objective neurological findings, and there was broad agreement between neurology and psychiatry that his symptoms were largely functional. He was reviewed by the ophthalmology service, who recorded grossly disordered eye movements and grossly restricted visual fields but no papilledema. His premorbid personality had been boisterous and outgoing. After the accident, his mood varied between elation and depression, with outbursts of anger. With time, he became apathetic, fatigued, and withdrawn. His weight increased, and he noticed reduced facial hair and libido. Pituitary function tests were all normal except that gonadotrophin levels were not increased in the face of low testosterone levels. He was started on testosterone replacement therapy. He developed polydipsia, which was attributed after investigation to a constant sensation of dryness in his mouth.
With intractable symptoms and our group's interest in disordered cerebrospinal fluid (CSF) dynamics and cerebral venous outflow obstruction, he underwent CT venography. This showed normal intracranial venous sinuses but marked narrowing of both jugular veins between the styloid processes of the skull and the transverse processes of the C1 vertebra (Figure 1A). Lumbar puncture revealed an opening pressure of 20 cm H2O, and his headache responded temporarily to cerebrospinal fluid (CSF) drainage, although tics were unchanged. Catheter venography confirmed the jugular narrowings, each associated with a 3 cm H2O gradient (Figure 2A). He had bilateral jugular venoplasty (Figure 2B) with no immediate effect, but over the following week, his physical and vocal tics were greatly reduced. His headache had improved. His demeanor was calmer. His head felt clearer, and his memory was improved. Within 2 weeks, all symptoms had returned (see Supplementary Videos S1, S2).
He was diagnosed with cranial venous outflow insufficiency and, following appropriate counseling, had resections of the left styloid process and of the left C1 transverse process in a single procedure (Figure 1B).
The next day, barring the occasional facial tic, all his abnormal vocalizations and abnormal movements had resolved. His headaches, balance, and mood improved. At ophthalmology review 6 weeks later, his vision had returned to normal.
His headache reoccurred in the months following surgery, and there was residual mood and cognitive disturbance, as well as profound fatigue. He responded to repeat venoplasty, but further surgical and stenting procedures were not successful in effecting any further reduction in jugular narrowing or seemingly any lasting clinical benefit.
A review of his notes 2 years after his initial intervention revealed a brief mention of a fluid discharge from his nose around the time of the accident. This was not addressed by his treating physician at the time, but now, on direct questioning, his partner recalled copious volumes of clear fluid coming from his nose on the night of the accident, adding to the distress experienced by the family on his arrival home. Then, over the next 3 years, this nasal discharge was repeated frequently, with no obvious precipitating factor, sometimes, for example, when they were sitting together watching television. However, none of this was revealed in numerous follow-up medical consultations, and at no time prior to surgery was the possibility of a CSF leak considered.
Following surgery, these discharges were substantially reduced in frequency and volume, and late attempts to establish the presence or likely origin of a CSF leak were unsuccessful. Then, at around 3 years post-surgery, they ceased altogether, this coinciding with a pronounced improvement in his general health and restoration of his premorbid affect, although headache and fatigue have persisted, if less severe than previously (see Supplementary Video S3).