The successful treatment of a man ultimately diagnosed as having a condition known as a "sagging brain" demonstrates the importance of exhaustive neurological scrutiny before concluding that a patient has an untreatable brain disorder, according to a UC San Francisco neurologist who presented the patient's case in the June issue of Neurology.
The report chronicles the tribulations of a 51-year-old Sacramento, Calif., computer programmer in otherwise excellent health whom neurologists were unable to treat.
Physicians in the man's hometown had conducted an MRI (magnetic resonance imaging) scan of his brain that suggested he had spontaneous intracranial hypotension, or "sagging brain," the result of a hole or tear in the sac around the spinal cord that causes fluid to leak into surrounding tissue. The resulting loss of pressure in the sac causes headaches and other symptoms such as visual abnormalities and the auditory disorder tinnitus, characterized by a ringing in the ear.
Such tears to the spinal fluid sac are not uncommon following spinal taps or other forms of neurosurgery. They can also occur when otherwise benign cysts at the juncture of the sac and a surrounding nerve rupture.
In many people the hole repairs itself and the symptoms go away. In most other cases, injection of some of the patient's own blood into the space around the spine--in what is known as an epidural blood patch--ultimately allows the sac to heal. (The patch leads to a temporary blood clot, which allows time for the sac wall to permanently repair itself.)
In this case, the patient was given an epidural blood patch, and his headache went away. But three days later it was back. The physicians applied another epidural blood patch, but to no avail.
The patient began to get worse, with a declining level of consciousness, memory problems and incontinence. In an attempt to locate the site of a suspected spinal fluid leak, the physicians conducted a myelogram, in which X-rays are taken after injecting a dye into the sac surrounding the spinal cord. They found no hole, yet a repeat MRI continued to indicate characteristics of the "sagging brain" disorder. They injected another epidural blood patch, this time a high volume infusion, which failed to provide relief.
Given the patient's failing cognitive ability--heretofore uncharacteristic of the condition--and the failure to correct the suspected hole, the physicians were concerned that their original diagnosis had been incorrect. They suspected that he had an infectious or inflammatory process, such as encephalitis, in which the brain becomes inflamed, but they were unable to make a definitive diagnosis. It was at this point that the man was admitted to a convalescent home where his condition deteriorated.
The patient's partner, unwilling to accept his advancing decline, sought counsel at UCSF, far from home and outside the couple's insurance plan. The woman originally took her partner to the UCSF Stanford Health Care Memory Disorders Clinic, which is staffed by neurologists who are trained to evaluate cognitive dysfunction and are involved in clinical research on causes of dementia.
>From there, she was referred to the UCSF Neurology Service, where she received advice from Robert Fishman, MD, a UCSF professor of neurology, who has seen 25 cases of this extremely rare syndrome (only 50 cases have been reported in the last 10 years). At this point, the scrutiny intensified.
The UCSF team conducted another MRI scan, which suggested that the original diagnosis, spontaneous intracranial hypotension, was correct and that the patient had a particularly severe case. "His brain was pulled down through the opening in the bottom of the skull, squeezing the portion of the brain involved in keeping him awake and alert," said Samuel Pleasure, MD, PhD, then chief resident of the neurology service and now an adjunct instructor of neurology at UCSF.
"He didn't lose consciousness--he wasn't in a coma, but he was inattentive and apathetic all the time. If he woke up, he might say a word or two or make a gesture, then drift off. Occasionally he would get up and walk out to the nurse's station."
In an attempt to temporarily treat the loss of spinal fluid pressure causing the patient's symptoms, the physicians administered an alternative to the epidural blood patch, a saline solution transmitted through a plastic tube to the space around his spine.
"Within six hours, he was strikingly more alert and interactive," Pleasure said. "By the next morning, he was almost normal, except for some memory problems. He woke up and said, `Where am I? What's going on?' Then he asked for a beer."
A computerized tomography (CT) myelogram and an MRI of the entire spine failed to demonstrate a spinal fluid leak. Following the failure to locate a leak, the patient was given another high volume blood patch, and subsequently became alert and had no symptoms other than mild memory deficits. He was sent home. A week later, the headache was back, along with some confusion. His ability to perform normal activities began to decline again.
William Dillon, MD, a UCSF professor of radiology, neurology and neurosurgery and one of the leading experts in the world on the radiology of the "sagging brain" disorder, examined the man's tests and after unusual investigation found a suspicious area. Another myelogram was performed focusing on that area and the leak was found. Another blood patch failed to reverse the leakage and the patient was taken to surgery where a ruptured cyst was identified.
"The hole caused by the cyst was closed through surgery, and the patient completely recovered," said Pleasure. "He's back to work as a computer programmer and his memory is back to normal."
The message here, said Pleasure, is that patients and their families should advocate for the most advanced neurological examinations possible when there is an unclear diagnosis so that these "odd ball cases don't get missed."
"It is unclear whether the case we describe, involving cognitive decline and a nearly indiscernible cyst, is the first that has ever occurred or whether it occurs more commonly and has simply not been diagnosed accurately.
"Regardless," he said, "there are many neurological disorders that may mimic the more common causes of dementia that simply don't get diagnosed accurately. A minority may be treatable. But even in the cases where they aren't, it is better to have an accurate diagnosis."
"Neurologists need to know about this syndrome, and other physicians need to remember that many causes of cognitive dysfunction are treatable," said Pleasure.
"If this man's partner hadn't pushed for some kind of answer, I don't know where he would be right now."
When the patient returned to UCSF for a meeting several months after his July 1996 surgery, he brought the nurses and physicians the homemade cheesecake he'd spoken of while a patient, as well as two six packs of beer.
"The only headaches I get now are from hangovers," he joked.
Note to media:
To arrange an interview with the attending physician and patient, contact Jennifer O'Brien in the UCSF News Office, at 415-476-2557.
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Neurology