Medical Mystery: Dementia, Parkinson's appear to have happened overnight

istock.com
istock.com
Posted: March 24, 2014

Her three sisters brought her to the emergency room at Mercy Fitzgerald Hospital. For the last month she had been having increasing problems with thinking and she could no longer walk on her own.

One month before, she was living independently with her daughter in Virginia, but now she looked to her sisters a lot like their elderly mother who died a few years ago of Alzheimer's disease.

How could this happen almost overnight?

In the emergency room, her vital signs were normal and she could tell the doctors the right place, month, and year.

But she answered questions very slowly if at all and couldn't do simple calculations. She was unable to walk and had the typical signs of Parkinson's disease: a tremor in her right hand and a shuffling gait.

But Parkinson's disease and dementia are degenerative diseases of the brain, which typically take years, not weeks, to come on.

How could a previously healthy 49-year-old woman develop signs of dementia and Parkinson's disease so quickly?

The only abnormalities in her blood work were a high number of a white blood cell called an eosinophil and an elevated level of an enzyme usually from the liver or bones.

Eosinophils usually only make up one to two percent of a patient's white blood cells, but for her almost half were eosinophils. These cells are usually elevated in allergic disease, but can also be a sign of a parasitic infection, a tumor, or an autoimmune disease.

In the last several years there have been increasing reports of rapid-onset dementias due to an autoimmune process. This might explain her symptoms, but an elevated eosinophil count isn't usually found in such cases.

These dementias are often associated with tumors - the tumor stimulates the body to make proteins that attack the brain, causing it to malfunction.

The other abnormal blood test - the enzyme - is often elevated in diseases involving the liver or bones. She would need to be evaluated for signs of a tumor and whether her liver or bones were involved.


Solution:

In working up her brain disease, an MRI showed inflammation in deep areas of her brain called white matter.

A spinal tap looking for signs of infection or inflammation was normal.

To evaluate her elevated enzyme level, a CAT scan of the abdomen was performed and showed an enlarged and abnormally textured spleen and multiple enlarged lymph nodes deep in her abdomen.

So her disease was affecting her brain, lymph nodes, spleen, and liver, and had elevated her eosinophil count.

Perhaps a tumor of her lymphatic system such as lymphoma was the most likely possibility.

However, another uncommon disease also could affect all these organs: sarcoidosis. This autoimmune disease typically affects the lungs and lymph nodes but at times can involve the brain, liver, spleen, eyes, and skin.

Usually the brain involvement affects the nerves to the eye or the nerve that moves the facial muscles; only in rare cases has it caused dementia and even the symptoms of Parkinson's disease.

Sarcoidosis causes an unusual type of inflammation called a granuloma in tissue, and the diagnosis depends on demonstrating these changes in biopsies of multiple organs.

A blood enzyme called ACE is elevated in some patients with sarcoidosis, and the ACE level in her blood was high, strongly favoring sarcoidosis as her diagnosis. Some patients also have mild elevation of eosinophils in their blood, although never to the degree that she had.

To diagnose lymphoma or sarcoidosis, biopsy of involved tissues is necessary. Lymph node biopsy was done first. which showed granulomas, consistent with sarcoidosis. She next had biopsies of her liver and the lining of her bronchi, which also showed the granulomas of sarcoidosis.

She definitely had sarcoidosis. But would treating her reverse the devastating brain symptoms she was suffering?

Treating sarcoidosis requires lowering the body's immune system and usually requires treatment with high doses of steroids. She began treatment on a Friday afternoon.

By Monday morning, she was starting to improve. The physical therapist was amazed how quickly she went from not being able to walk at all to becoming independent. By week's end she was walking around the hospital ward with no difficulty.

Her mental functions also began to improve and she could more freely answer questions and make calculations in her head.

The steroids had given her life back. Her sisters were overjoyed that their sister was back, and she was making plans to return to her daughter in Virginia.


William B. McNamee, Jr. is an infectious disease specialist at Mercy Fitzgerald Hospital.

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