Patient’s story: A Second Opinion Provided a Diagnosis for Terrible Headaches

Peter Monti, aged 69, from the United Kingdom suffered with headaches since 1980. Ten years later he also started to experience memory problems. The first neurologist said that Peter imagined his problems and so didn’t propose any treatment.

Peter explains his situation:

“Instead of testing me for neurological symptoms he suggested I have my back x-rayed and see an orthopaedic consultant. To wait for an appointment for this would have taken about a year at the time, and my memory and headaches were getting worse. I had to go private.”

This was only beginning of a long journey. Five years later another neurologist came with the diagnosis of ventricular dilatation of the brain. During the next 8 years several different specialists across the country came with various different diagnosis – confirming the ventricular dilatation, suggesting hydrocephalus, brain tumour, suspecting a mini stroke, anxiety or simply saying that the patient doesn’t suffer from any disease. None of these helped Peter to relieve his pain. Peter adds:

“I had pressure in head like pumping up a football or like an elephant sitting on my head. I had difficulties in remembering times of appointments. 99% of the time, my wife had to be with me when I went out.“

The situation was very frustrating, and Peter felt that he didn’t get enough attention from doctors who explained very little to him about his symptoms. What was even worse, his condition wasn’t getting any better and he was still suffering from headaches and memory problems. Peter says:

“I felt very exhausted one afternoon, that I lay down on the couch, but on awakening I found that my speech was slurred, the left side of my body, face and mouth felt numb and my leg and arm were numb with no life in them. These appeared to be typical stroke symptoms. This eased off, within reason, in a day. However, it did leave me with a dribble from the left side of the mouth and some numbness in other parts which is still there today. The main headaches and pressure were still there, and I had lost my large word vocabulary and spelling.”

In 2006 Peter used the freedom of information to get all his GP’s, council, and hospital notes. Later he contacted Diagnose.me for a second opinion as he wanted to find out the cause of his problems to enable him to get the proper treatment. Peter explains:

“I needed a means of finding what was happening inside my head, the consultants up north, as I have said, did not believe the south and living in the north I could not access any more help. Therefore I started looking on the internet for any means of going private, without having to give all my old notes to the new consultants, simply a fresh start.“

He approached Professor Majda Thurnher, a leading specialist for neuroradiology who is also a President of the European Society of Neuroradiology-Diagnostic and Interventional (ESNR).

Dr. Thurnher carefully reviewed Peter’s brain MRI and the clinical information he provided. Her detailed report revealed that there were no signs of acute lesions or other brain diseases on the MRI. She also said that there were no signs indicating hydrocephalus. She concluded that the neurological examinations and MRI of the brain did not show any abnormality that would explain Peter’s clinical symptoms. However, she confirmed slight widening of the ventricles. Finally, further neurological examination was recommended.

Even though Professor Thurnher didn’t come up with a diagnosis or give clear explanation of Peter’s headaches, she provided him with a detailed description of her findings and the information he was missing along with recommendations for the next steps. Peter summarises:

“This at least has given me the knowledge, that at least, there are no major problems in my head. It is certainly worthwhile having this second opinion, as at least I now know just what is going on and that the headaches and pressure are not an indication of any major problems.“

Patient’s story: Long road to getting a proper treatment plan for Multiple Sclerosis

Nikita Plotnikov is a 26 year old entrepreneur from Ukraine. When he started experiencing loss of coordination and double vision he went to a local clinic in Kharkov to find out what was happening to him.

An MRI, without using contrast agent, revealed multiple demyelinated lesions in the white matter of the brain. On the basis of these results Nikita was sent to a Multiple Sclerosis treatment centre where he had another MRI examination, this time using contrast agent. They also took blood and urine samples for testing. The final diagnosis given to Nikita was Multiple Sclerosis. Nikita explains his first feelings after being diagnosed:

“After I first heard the diagnosis of MS I felt confusion, fear and offense. I was asking why me?”

For the next 5 days Nikita was assigned to steroid pulse therapy by Metipred. He also underwent therapy where he had his affected blood plasma replaced with good plasma. During this entire time he did not receive any clear explanation of the disease or of the treatment he was undergoing. Nikita was still hoping that doctors were wrong and that his diagnosis was incorrect:

“When I did not get enough information about my disease I was hoping that the diagnosis is not correct, that I had a disease that can be cured.”

Since insurance in the Ukraine does not cover treatment of MS, and the state does not allocate money for its treatment, Nikita was offered the possibility to participate in the testing of drugs similar to Copaxone, which is used to prevent the relapse of Multiple Sclerosis. These drugs had already been tested and were on sale, but during that time they were being tested for their effectiveness in comparison to other similar alternatives. Nikita refused to participate in this program because he still had no detailed or verified information about his disease. However, at the same time he also didn’t have many other options. Nikita continues:

“I refused to participate in test program partly because, again, did not possess enough information about my disease, and I yet had a hope. And my feeling was anger and unwillingness to accept the status quo.”

On the advice of his Dutch friend he contacted Diagnose.me. In a few days his case was carefully reviewed by doctor Georgios Karas, a neuroradiology specialist at Diagnose.me. Unfortunately, the conclusion drawn in the end was the same as in the Ukraine, Multiple Sclerosis. However, Nikita received a detailed report and explanations, which were easy to understand and gave him more information about his condition. What brought about a change in the course of happenings was the fact that Diagnose.me provided Nikita, not only with a second opinion medical report, but also recommendations for the treatment, and a contact for one of the main hospitals treating Multiple Sclerosis in the Netherlands. On the basis of these recommendations, Nikita visited Jeroen Bosch Hospital in Den Bosch where he finally received guidance. He concludes:

“Thanks to Diagnose.me, I received a proper treatment plan for my disease as well as an understanding of how to live with it.”

After Nikita went back home to the Ukraine early this year, he began to look for a doctor who would have the same thoughtful and heedful approach as his Dutch doctor. He succeeded in finding one and was following the treatment plan designed for his condition. Unfortunately, a few weeks ago he had to quit taking Copaxone as it was too expensive. Nikita explains his future treatment plan:

“At the moment I am looking for a possibility to participate in a clinical research study.”

What is Hypoxic-Ischemic Encephalopathy?

HIE or Hypoxic-ischemic encephalopathy is a condition where the brain does not receive enough oxygen.

HIE
MRI Brain

This can occur if there is a problem getting the blood to the brain, for example if the heart is not pumping adequately, or if there is not enough oxygen in the blood which can occur if someone is not breathing adequately.

The extent and location of brain injury depends on how severe the loss of oxygen, and amount of time the oxygen has not been available to the brain. It also depends upon the age of the baby.

Hypoxic Ischemic Encephalopathy in Neonates

Babies born prior to the expected delivery time are most susceptible. If HIE occurs before 35 weeks of birth it results in cysts in the brain tissue called periventricular leukomalacia or PVL.

Hypoxic ischemic encephalopathy can occur in intrauterine life before birth, at the time of birth and after birth. There are many risk factors including:

  • Low blood pressure in the mother
  • Infection
  • Forceps or breech delivery
  • Umbilical cord prolapse

Short Term and Long Term Effects of HIE

There are short term and long term effects of HIE. Short term include bleeding in the brain and seizures. Long term effects depend on severity and location and can range from epilepsy to delayed milestones and motor movement disorder like cerebral palsy.

Detecting Hypoxic Ischemic Encephalopathy

Sometimes it can be difficult to detect an episode of HIE. In hospital or intensive care it can be detected by a change in feeding and breathing pattern. The body may become stiff or floppy ,or the patient may experience hypoxic ischemic encephalopathy and seizures.

Hypoxic Ischemic Encephalopathy in Children

For older children an eyewitness may have to give details as usually the patient would not remember the episode.

Hypoxic Ischemic Encephalopathy MRI

When HIE is suspected, imaging can play an important role using ultrasound, CT or MRI. MRI is the preferred method as there is no radiation and is excellent in detecting the extent of HIE in the brain.

MRI may give us important information about the diagnosis about any complications and determine extent of injury with possible long term effects. A second medical opinion is best practice when analysing the results of the MRI scan for such a complex condition.

Seizures and epilepsy in Childhood

It is a terrifying experience for family members who witness their loved ones, especially children, have an episode of seizures or further on, be diagnosed with epilepsy.

In many cases seizures that take place at home have not subsequently been picked up in hospitals by even the most sophisticated scanning. This can cause doctors or parents to believe they are imagining that their child has epilepsy. This is a frustrating situation for a parent to be in, and fortunately most doctors will now listen sympathetically to parents and treat them as a primary information source in helping to manage and correctly diagnose their children’s health.

What is a seizure?

Seizures occur when there is a short period of sudden surge of electrical activity from the brain, causing our body to act in a certain way. When someone has a tendency of recurrent seizures over a longer period of time, then it is called epilepsy.

seizures
MRI brain

This electrical activity may occur from one small area or the entire brain, this determines if the seizure will occur in one part of the body or be generalized. Although having a single episode of seizure does not mean there will have more seizures, it does however increase an individual’s chances of having more. Seizures are not rare in children, and they do not necessarily mean a dangerous pathology. However, a history of seizures in the family does makes it more likely for them to develop epilepsy.

Causes of Seizures in Children

There are many causes of seizures and epilepsy which vary from newborn to older age however, in many cases the cause of seizures may be unknown.

Common causes are:

  • Structural abnormalities in the developing brain,
  • Decreased levels of electrolytes in the blood,
  • Bleeding in the brain and
  • Low blood or oxygen supply to the brain in newborn and infants less than 1 year age There are also a number of causes which affect all age groups including: infections such as meningitis or encephalitis and stroke. Also, within the 60’s age group, brain atrophy and degenerative conditions such as Alzheimer’s disease can cause seizures.
  • Space occupying lesions can affect any age group, however in children specific lesions are more prone to causing seizures than other ages.

Diagnosis of Seizures

Diagnosis of seizures can be difficult, as the person having the seizure may not remember what has taken place. Within children they will rely on parents or loved ones to recount this for them and take action.

The doctor will perform a neurological examination including a test that measures the electrical activity of the brain called EEG. Imaging tests such as computerized tomography (CT)and magnetic resonance imaging (MRI)may be required. In paediatrics MRI are preferred due to the absence of radiation exposure, however under 5 years of age MRI requires general anaesthesia. CT is the preferred option in acute settings.

Diagnosis from scanscan be open to interpretation and therefore could possible lead to a misdiagnosis. If you’ve visited a doctor and are having doubts, asecond medical opinioncan reduce the risk of a misdiagnosis by up to 90%. Diagnose.me can help.

Multiple Sclerosis and Neuroimaging: what you should know

What do we know about multiple sclerosis?

One thing we definitively know about multiple sclerosis (MS) is that we still know very little about it, despite all the accumulated data and information gathered over the past years. We are not even sure about the “etiopathogenesis” of this disease or in lay-man’s terms “what causes it”.

Nevertheless, there is no doubt that our immune system (meaning the defensive mechanisms circulating in our blood system, be it either cells or some chemicals) somehow gets involved in the disease process. Therefore, all current validated therapeutic approaches have focused on improving the outcomes by suppressing this altered immune response.

Imaging in the diagnosis of MS

We have numerous different diagnostic tools in our hand that we can offer for MS. Since the first use of magnetic resonance imaging (MRI) in the early eighties, MRI has revolutionized our diagnostic capabilities by direct visualization of MS plaques in the brain and also by helping us rule out other diseases such as stroke, tumor or infection. MRI and imaging technology is also constantly improving and we have better equipment and a vast number of image acquisition methods in our armamentarium.

What is neuroradiology? Who are the Neuroradiologists?

While Radiologists as medical doctors who used to solely interpret plain X-ray films and other X-ray studies before the eighties, now have to deal with a number of different sophisticated imaging methods which provide details at tissue level. This has led to subspecialization in radiology and today we have a number of subspecialties in radiology with neuroradiology being one of them. Neuroradiologist is a Radiologist who has completed 1-2 years of fellowship training in neuroradiology after graduation from a radiology program. Neuroradiologists are highly capable of interpreting complex imaging studies of the central nervous system and pivotal in planning required studies to obtain the correct diagnosis. Therefore, Neuroradiologists act as crucial members in neuroscientific clinical boards and meetings.

Magnetic resonance Equipment

Today, magnetic resonance (MR) machines are one of the most extremely complicated devices in medicine. MR machine utilizes radiowaves, which is a part of nonionizing electromagnetic radiation. By “nonionizing”, we mean the emitted waves do not interact with organic molecules and thus do not cause mutations in cells. Therefore, all the risks such as developing cancers related to X-ray exposure are not an issue for MRI. Once you get in the scanner which contains powerful magnets (30 000-60 000 times stronger than the earth’s magnetic field), all the hydrogen atoms in the body get aligned along the main magnetic field in the device and then you will hear different types of banging sounds which is a reflection of small amounts of variations from the main magnetic field to locate and characterize tissues. Thus, you need to be extremely careful to remove all metallic belongings including cell phones, credit cards etc since they can be drawn towards the machine, which could otherwise cause potential injuries or at least make the equipment malfunction. I strongly advice you to read the consent form provided to you by the radiology staff and carefully fill out the forms to reveal any obstacles in your way to undergo MR study such as cardiac pacemakers or any surgical implants not compatible with MRI.

This is how typical MS plaques look like on brain MRI. Those white areas are the lesions within the white matter (the part of the brain composed of nerve projections connection different parts of the brain).

Why do we need MRI in the diagnosis of MS?

Diagnosis of multiple sclerosis is currently based on history and clinical examination. Sometimes it could be very straightforward, but sometimes it can be quite challenging for the Neurologist. Because at times MS can mimic brain tumors, stroke or encephalitis (infection of the brain tissue). In order to come up with the diagnosis of MS, those other such diseases should be ruled out first and MR imaging is a great helper in that regard. Secondly, the physician most of the time has to prove that the lesions has progressed in time or space. By “space” we mean involvement of different compartments of the central nervous system and by “time” we mean the chronicity of the lesions. If there is a question of MS in a patient who does not have any other neurologic disorder, the Neurologist then can wait long enough to ascertain the diagnosis and start the treatment. In such cases MRI does a terrific job and expedites the waiting period so that proper treatment measures can be instituted. Recent studies have demonstrated that rapid action to start treatment in early stages significantly reduces chronic deficits that might be caused by the disease.

What is an MRI contrast and why do we need it?

Gadolinium-containing substances with numerous brand names on the market can be used to better visualize the findings during MR scans. We almost always need these “dyes” when the scan is done for MS. These dyes are injected through a vessel in your arm during the scan and help us differentiate between active MS plaques (plaques in which an active inflammatory process is going on) and inactive ones. Active plaques take up the dye and become avidly enhancing on the images. Correct depiction and recognition of active plaques help us understand the progression of the disease and monitor the treatment.

“I am scared of of MR machine, I have claustrophobia, can I avoid MR scanning?”

An MR study usually takes some time, because we obtain different image sets to characterize different properties of the tissues. Each image set is called a “sequence”. Each sequence consists of specific imaging properties obtained on a different anatomical plane. During this time, you need to stay in a relatively closed environment with cage-like apparatus around your head (we call those coils and they work as antennas to receive the returning radiowaves from the body). We cannot easily get rid of such a valuable diagnostic tool for MS. For claustrophobic patients, we usually have two different options. One is to have the scanning done in an open magnet (these machines usually provide more room for the patients but the image quality is not that good), or requesting sedation or general anesthesia.

Who performs the MR studies and who interprets them?

MR techs are radiology technologists qualified to operate the MR equipment. They usually welcome you at the door, give you instructions about the procedure, sit at the console outside the MR room and watch and talk to you during the study. However, you may also interact with the receptionist for paperwork or a radiology nurse to have a line placed in your arm for the injection of dye.

Radiologists are usually in another room at their workstations and continously read the studies and dictate their findings of the studies that have been performed, on paper as a report. They might want to see your scan in real time in order to give instructions to the tech, if there is a need and they can either do it where they are working remotely or can also visit the MR console.

As mentioned before, a Neuroradiologist would interpret your study if there is one at that specific center. However, most of the time a subspecialized Radiologist is not available and a Radiologist has to tackle different problems.

“My report is full of medical terms and words that do not make any sense. What am I going to do?”

Reports of the imaging studies consist of the comments and impressions of the Radiologists based on the findings and are intended for the referring physician. If you have specific questions in your mind, you can address them to the referring physician. But sometimes your Neurologist may not be able to answer those when they are highly specific to the imaging discipline. In that case you should not hesitate to contact the interpreting Radiologist or a Neuroradiologist and seek for a detailed explanation.