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Crowdsourcing A Mom’s Medical Diagnosis: Help is needed!

My readers know well that I’ve been speaking about the use of crowdsourcing in medicine and healthcare for years and I do this in practice every single day through my medical Facebook, Twitter, Google+ and Friendfeed communities. Once I even managed to crowdsource a rare diagnosis through these networks. Now I turn to you again in order to solve a medical mystery of a mother.

In a nutshell, a postpartum mother with no seizure or high blood pressure history suddenly developing malignant high blood pressure plus a new onset seizure disorder of complex partial seizures. She is being treated at Stanford, but still there is no final diagnosis. Here is the Facebook page the husband created and the details:

In my layman’s language, we have this previously very healthy woman who has a difficult third pregnancy. She has preclampsia during her pregnancy. She delivers the baby and then her blood pressure does not normalize (as would be expected with a preclampsia patient) but her blood pressure proceeds to get worse–to the point were she has a high-blood pressure-induced eclamptic seizure in her sleep seven weeks after the birth of her baby. She then starts to gets partial complex seizures (the lip smacking kind) in her sleep; that happen every six or seven weeks. She’ll get these partial complex seizures for maybe seven nights in a row before they stop, only to have them return in another six weeks or so. This pattern of seizure clusters is pretty consistent. The patient has been extensively worked up at Stanford and other places, with everything coming back negative–except for a recent diagnosis of potential Lyme’s exposure.  We have all these specialists that don’t know what to make of this very distinct profile–a postpartum mother with no seizure or high blood pressure history suddenly developing malignant high blood pressure plus a new onset seizure disorder of complex partial seizures–that cluster, are only nocturnal, and go dormant for six weeks before reappearing. Yes, the patient shows some Lyme’s exposure but the regular physicians at Stanford are just dismissive of a diagnosis of Lyme’s disease in general.

History of Present Illness is here.

Complete set of medical files are here.

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20 Comments Post a comment
  1. The first thing that comes to mind is pheochromocytoma. I would start with a metanephrine test. If positive, I would move on the an MRI for localization of the tumor. Also, a MEN workup might be a good idea, especially in light of the constellation of symptoms.

    July 3, 2012
  2. They say it was ruled out with early labs.

    July 3, 2012
  3. Fascinating – and glad they checked for renal artery stenosis.

    July 3, 2012
  4. Pheno would have been my first choice, otherwise potentially something like Hyperadrenergic POTS given the malignant high blood pressure and postpartum onset.

    July 3, 2012
  5. Would repeat tests for pheo, including considering MIBG radionucleotide scanning and full quadruple phase CT with thin slices. There was a fluid collection on the ultrasound-?still present or has resolved. Is it possible to undertake ambulatory EEG monitoring-to evaluate nature of the seizure disroder.

    July 3, 2012
  6. Anonymous #

    1) +1 Repeat tests for pheo
    2) “Chinese herbs” = ?

    July 3, 2012
  7. A response from the husband:

    yes, we’d consider repeating pheo. Would pheo explain both the seizures and the hypertension?
    And, we did ambulatory EEG. I observed lip-smacking seizure and recorded time at 3am. Neurologist reviewed EEG recording twice at 3am and only observed couple lip chews. Unremarkable otherwise.

    July 3, 2012
  8. A new update from the husband:

    My wife went to see her neurologist today. She wrote up some notes from her visit. She’s going to get retested for pheo but we do believe that it will come back negative. Pheo would be the easy answer.

    We’re focusing on the thyroxine connection for her, based on the similar seizure pattern detailed in the research study of a 28 year-old man with complex-partial seizures with regular intervals.

    July 4, 2012
  9. Mel Snyder #

    “She then starts to gets partial complex seizures (the lip smacking kind) in her sleep; that happen every six or seven weeks. She’ll get these partial complex seizures for maybe seven nights in a row before they stop, only to have them return in another six weeks or so.”

    I am assuming that these seizures are only nocturnal. So….

    Has she had a sleep lab study with complete monitoring during these episodes? It would be valuable to monitor her as completely as possible, including blood draws. As radical as it might sound, a sleep study at a lab with the ability to perform fMRI while she is having seizures.

    Even more radical: The studies should be read blinded.

    I recall a case at St. Vincent’s in NYC where a neurologist came into the nuclear medicine lab, spotted an image on the screen, and declared, “Epilepsy.” No, the nuclear medicine special said, schizophrenia. “No, that’s epilepsy,” the neuro responded. The patient was given a therapeutic trial of an antiepileptic agent, and the “schizophrenia” resolved.

    Occasionally, knowledge of the patient’s history sends clinicians down the wrong path. My sense is, the diagnostic process begins with understanding physiologically and neurologically what’s going on when she’s having those seizures.

    July 5, 2012
  10. I note in various places that an EEG was done: did the results actually confirm seizures/epilleptiform discharges? Has there been any consideration of pseudoseizures?

    Alternately: has an LP been done, and has there been an evaluation for some sort of encephalitis (HSV, CMV, etc)? After all, both the BP elevation and the seizures could be true/true/unrelated.

    July 16, 2012
  11. Also: HIV, Tb and RPR testing? I know HIV and RPR would be routine tests for prenatal care, but if not repeated, might be worthwhile. And always consider Tb…

    July 16, 2012
  12. Also–to clarify. Apparently the term “pesudoseizure” is no longer favored; the proper term is Psychogenic non-epileptic seizures.

    July 16, 2012

Trackbacks & Pingbacks

  1. The Most Touching Facebook Page Ever « Traveling. Exploring. Just about anything.
  2. Mom’s Medical History: A Wiki to Help Crowdsourcing « ScienceRoll
  3. Mom’s Medical History: Matrix of Ruled Out Conditions « ScienceRoll
  4. Mom’s Medical Mystery: Turning to SLE? « ScienceRoll
  5. Por que os médicos devem usar crowdsource em seus diagnósticos médico | ITworld « Professor Mario Costa
  6. Why Doctors Should Crowdsource Your Medical Diagnosis | Innovation
  7. Why Doctors Should Crowdsource Your Medical Diagnosis | SAP

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