Discussions By Condition: I cannot get a diagnosis.

nuro help needed

Posted In: I cannot get a diagnosis. 3 Replies
  • Posted By: jdtireservice
  • September 20, 2008
  • 01:28 AM

Hello Looking for any help
available. My father is a 57 year old male who had sudden onset of severe headache described as worst headache ever. 2 days latter ER visit physical examation diagnosed as Migraine. 3 days later headache still there now loss of peripheral vision on left, cognitive skills appear to be lessen. Back to the ER CAT Scan MRI done nothing ER doctors feel it is a stroke. Admitted to hospital 2 days later another MRI nothing back to it must be a migraine. Then seizures began no seizure history prior to this. Another MRI and CT scan this time large matter on right side of brain neurologist said this is probably cancer. This MRI report said encephalitis must be ruled out. That made us remember he had two brother who both were diagnosed with types of encephalitis both had very same symptoms as my father and the onset occurred about the same age. The doctor said a biopsy was need and we were transferred to a hospital in Houston. There a couple days and the Neurologist came to the probably diagnose of Melas a mitochondrial defect. Did a muscle biopsy. Father has continue to decline. Now seizures are stroke like but not strokes. Did a gene study. Began him on numerous vitamins and amino acids. Show some improvements. Release after 27 days contuin to improve short term loss still and some cognitive skill loss still. Results are back mitochondrial defects ruled out. Only thing that ever show up in any blood test or spinal tap was elevated proteins his brothers both had only elevated proteins. Any one ever heard of this or any ideas? Sorry for so long of post just wanted some help

Reply Flag this Discussion

3 Replies:

  • I'm so sorry you're dealing with this! I found this, but I don't know how (of even if) it relates to your case: http://www.sciencedaily.com/releases/2006/09/060915202312.htm
    aquila 1,263 Replies
    • September 22, 2008
    • 07:01 PM
    • 0
    Flag this Response
  • Hello, Mitochondrial myopathy, Encephalopathy, and Stroke (MELAS) is a progressive neurodegenerative disorder. Typically, one of the hallmark characteristics of the disease is short stature. Lactic acidosis is present in almost all cases as well. Also, muscle and brain biopsy, along with mitochondrial studies are necessary to confirm the diagnosis. I became interested in the posting when I read that your uncles also demonstrated encephalitis and elevated CSF proteins. Something that possibly has not been considered in your father's case is something known as Familial Hemiplegic Migraine. It is an inherited disorder as well and can demonstrate hyperintensities on MRI, particularly in the cortical ribbon and naturally unilateral somewhat in the manner described in your posting. Direct mutation analysis or, if unrevealing, genetic linkage studies are indicated to determine whether your father has inherited a causative mutation in either of the known loci for FHM in chromosome 19p or 1q31. From a treatment standpoint, the use of serotonin agonists and ergot derivatives is contraindicated in the treatment of FHM since transient hemiplegia and ischemic stroke are possible complications. Prochlorperazine, a dopamine antagonist with properties, and nonsteroidal anti-inflammatory are useful for early treatment of this type of migraine. Long-term prophylactic treatment to reduce the frequency of migraine includes the use of calcium channel antagonists such as verapamil. There has even been some success reported with acetazolamide relative to a certain gene mutation causing the disorder. Based upon your description and the findings, I would have your specialists perform gene testing to discern whether FHM is likely, as well as consider treatment with some of the therapeutic agents mentioned that demonstrate efficacy in cases involving FHM if it turns out to be the case with your father. Keep me informed. I'd like to know how he progresses. I would also like to know what the present status is with your uncles if you know. Best regards, J Cottle, MD
    JCottleMD 580 Replies
    • September 22, 2008
    • 11:15 PM
    • 0
    Flag this Response
  • Thank you all for your replies. The link for encephalitis was very helpful and informative. However the test results for encephalitis came back negative only the CT scan stated “that encephalitis needed to be ruled out.” After the spinal tap and blood test came back negative we were told that was not a possibly. But I do find it to much of a coincidence to dismiss their illness. As for my two uncles both have since pass on. One from a fatal boating accident and the other die in his home the assumption is heart attack but a autopsy was not performed. Neither brother ever returned to him self after being sick. Both had slower mental functions one stilled suffered from seizures he died after about 6 mo. From being released the hospital. The other brother had two hospital stays for several days suffering from very similar symptoms. He lived about a year after his last hospital stay. Also Dad has a B-12 deficiency. He is the youngest boy of 8 kids. The oldest sister died of heart problems at the age of 61 the next sister has only 20% usage of her heart, two brothers died as spoke about before, the next sister has server diabetes, the other brother has had a triple bypass, the other sister was diagnosed with Lou gehrig's disease then lived longer the typical so she was diagnosed with irregular Lou gehrig’s and has since passed on not from the disease chocked on a grape at the hospital. Thank you about the Hemiplegics Migraine I have been diagnose with this how ever mine are very rare and controlled when they occur. Also I have a sister with epilepsy. Thank you all so much
    jdtireservice 5 Replies
    • September 24, 2008
    • 01:37 AM
    • 0
    Flag this Response
Thanks! A moderator will review your post and it will be live within the next 24 hours.

Signs of a Psoriasis Flare

Know the five types of psoriasis and how to spot flares.

How Diabetes Medications Affect Your Appetite

Newer diabetes treatments can suppress appetite and aid weight loss.

What to Do For Dry Mouth

Try these tips to get your salivary glands back into action.

The Painkiller – Constipation Connection

Constipation is a common side effect of opioid and narcotic pain medicines.

9 Signs of Sensitive Skin

Is it sensitive skin or something else?