Are we seen as second class citizens? (Part 1)

Normally, I try to be upbeat and positive with my blog post, but, today, I wanted to pose a question: because of our condition, are we viewed as second-class citizens?

What is hydrocephalus?

It is normal to have fluid around your skull. The problems arise when that fluid - known as cerebrospinal fluid or CSF - becomes excessive and causes a widening of the ventricles within the hemispheres of the brain. According to Medicinenet, it is estimated that one in 500 children are born with this condition. Many, like myself, survive the condition to adulthood and live normal, productive lives that include getting married and having children.

Adults vs. children: it affects each differently

The symptoms of hydrocephalus are different in adults and children for two major reasons: 1) Age of the person; and 2) Individual (health) factors. For example, with an infant, the skull is not fully fused, so the CSF will cause the head to enlarge as well as other obvious signs such as "sun-setting" (downward deviation) of the eyes. In older children and adults, however, head enlargement is not possible, so the symptoms experienced are different. Symptoms can include: headache, swelling of the optic  nerve (papiledema), and memory loss.

Relieving the pressure within: preparing for my surgery (part 1)

Most involved . . .

Since 2008, I have five other surgical procedures: three stints (2016), bi-ventricular pacemaker (2014), and an Orchiectomy (2008). The surgery to implant a shunt or open a ventriculostomy will be, by far, the most involved carrying the greatest benefit to allow me to return - at least for the biggest part - to helping others. Are there risk? Yes, but at this point, I think the benefits far exceed the risk. To quote an article I read "Most cases of symptomatic hydrocephalus must be treated before permanent neurologic deficits result or neurologic deficits progress" That same article goes on to explain that when the etiologic factor(s) are known, the hydrocephalus can be treated with temporary measures while the underlying causation is also being treated. In my situation, the etiology is congenital aqueductal stenosis which causes my aqueduct of Sylvius to be completely blocked which means cerebrospinal fluid is always present in my skull and cannot be reabsorbed by my body.

Questions, forms, and tests (Oh my!)

I haven't even had the consultation for the surgery yet, and I am blown away by the questions to be answered, forms to be filled out (some in duplicate and triplicate), and tests that have to be completed. I am somewhat embarrassed to admit this, but as I was educating myself on what was about to happen and the website mentioned "informed consent" but, for whatever reason, my mind saw "implied consent". It wasn't until later than evening when I mentioned it to my sister Hope, that she pointed out my gaffe. "Informed consent", by the way, means that I fully understand what the surgery is intended to do, benefits and, of course, potential risks. I do.

But it's not just paperwork when you're preparing for brain surgery (pardon my repeated use of those words . . . it's my way of making what is about to happen real). Prior my consultation visit with my neurosurgeon (which will most likely occur late next and when I am admitted to the hospital, I will have undergone three (3) imaging studies including an Cine MRI which will allow the neurosurgeon to the flow of my cerebrospinal fluid or CSF. This is important for two reasons: 1) It will allow the neurosurgeon to see any blockages that exists in addition to the aqueductual stenosis that we are already aware of; and 2) It will confirm if their suspicions are correct and that I also have Chiari malformation where the cerebellar tonsils (lowest part of the brain) has actually descended into the upper part of my spinal column.

Let's talk about shunt surgery

I would have never thought it

For those who follow this blog regularly, you know that I developed hydrocephalus about one week after I was born.  You might also remember that I became symptomatic last October. Up to this point I have done okay treating the symptoms with medication, but they are getting worse, so, this coming week, I have an appointment at Emory University Hospital for a surgical consultation to either implant a ventriculoperitoneal (VP) shunt, do an endoscopic third ventriculostomy (ETV), or, maybe, both. Whichever Dr. Olson and I agree on, I am ready and look forward - following my recovery - to returning to a quality of life that I enjoy and that benefits those around me.

As I say, I am at peace with the surgery, however, after seeing a video on YouTube, one aspect of the shunt implant raise my anxiety (and pain level) a notch. It involves what I refer to as the "Moses stick" (surgical, stainless steel rod) they use to guide the tubing toward its final destination in my peritoneal cavity. I have been assured by my hydrocephalus family that I will be getting the "good stuff" for pain so any discomfort I feel should be minimal.

They will keep me going

Regardless of how it plays - surgical intervention or continued treatment with medication - I have the most awesome support system a guy could ask for and I believe it is because they have "been there, done that" so they are not only helping me to grasp what's before me, but calming my fears. I love my sweet "hydro family". ❤

Complications and malfunctions of shunt systems

Sadly, much of my inspiration for blogs on hydrocephalus come about because of a bad situation that occurs either to me or one of my friends with hydrocephalus. This is one of those occasions. Early Monday morning, one of my friends passed away after tubing from his shunt broke and came into contact with his brain stem. You might wonder how such a thing could happen. So named because of its stem-like appearance, the brain stem is where the base of the brain attaches to the spinal cord. (WebMD, 2016) it's main job is to control the flow of messages between the brain and the rest of the body; it is also controls basic body functions such as breathing, heart rate, and blood pressure.

What can go wrong?

Hydrocephalus is treated by surgically implanting a shunt into the patient's brain, however, complications can develop or the shunt can malfunction. Interestingly, in pediatric patients, there is a fifty percent (50%) shunt failure rate after only two (2) years. The exact cause for this is unclear.

Shunt malfunction

A partial or complete blockage of the shunt system is know as a shunt malfunction. (Hydrocephalus Association, 2014) When this occurs, cerebrospinal fluid builds up and causes symptoms similar to those seen with untreated hydrocephalus.

The blockage is caused by a build-up of blood cells, tissue, or bacteria and occur anywhere system. Both the proximal catheter (which is implanted in the brain) as well as the distal catheter (which can be implanted either in the ventricle of the heart, the peritoneal cavity of the abdomen, or, rarely, in the spine) can be blocked. These blockages originate in either the choroid plexus or the ventricles of the brain. Generally speaking, in adult hydrocephalus patient's, blockages occur with greater frequency in the distal catheter.

Generally, a shunt system is durable, however, components of the system (pictured below) can become disengaged or fractured as the result of normal wear -- particularly in children due to their growth spurts. Also, although rare, a valve can fail due to a mechanical malfunction.

Shunt infection

A shunt infection usually occurs as a result of the person's own bacterial organisms and isn't caused by be exposed to someone who is sick. The most common bacterium to cause an infection is Staphlococcus epidermis. which is normally present on a person's skin as well as in the hair follicles and in the sweat glands. This type of infection is typically seen one (1) to three (3) months after shunt implant surgery, but can occur up to six (6) months later. In persons with a ventriculoperitoneal (VP) shunt is a shunt infection that occurs secondarily to an abdominal infection. Lastly, in persons treated with a ventriculoatrial shunt (which empties into the right ventricle of the heart) a generalized infection can occur.

Other shunt complications

Over drainage causes the ventricles to decrease in size and become slit-like (see: What is slit ventricle syndrome (SVS)?) due to the brain and meninges pulling away from the skull. SVS is most common in young adults who have been shunted since early childhood. A telltale symptom of SVS is severe intermittent headache that improves when the person is laying down.

Under drainage does the exact opposite and causes the ventricles to swell. When this occurs, the shunt might not be able to relieve the hydrocephalus symptoms. In order to restore a balanced flow of CSF, it might be necessary to implant a new shunt with a more accurate pressure valve. If the person has a shunt with programmable valves, the balance of flow can be restored by resetting the opening pressure.

 Subdural hematoma (pictured at left) occurs when a broken blood vessel in the meninges becomes trapped between the skull and the brain. It is seen most commonly in adults with Normal pressure hydrocephalus (NPH) and requires surgical intervention to correct it.

Multiloculated hydrocephalus is located (isolated) CSF compartment in the ventricular system that is enlarged and not in communication with the normal ventricle. It can be the result of trauma at birth, neonatal intraventricular hemorrhage, Ventriculitis, over drainage, or other conditions. This complication might be difficult to identify because it is typically seen in infants and children who might be neurologically compromised. Treatment involves surgery to implant ventricular catheters, Craniotomy and fenestration (opening) of the intraventricular loculations. (John Hopkins Medical, N.D.)

Seizures can sometimes occur in people (both adults and children) with hydrocephalus. Medical research has shown there is NO CORRELATION (emphasis added) between the site a shunt implant (or the number of revisions a person has) and a increased risk of developing seizures. The one possible exception to this involves children who have significant cognitive delays or motor disabilities are at higher risk (italic emphasis added) are more likely to experience seizures compared to children without similar delays or disabilities. Research has also shown that seizures aren't likely to occur at the time a shunt malfunctions, and the more likely explanation for the occurrence of a seizure disorder is related to an associated malformation of the cerebral cortex.

Abdominal complications can also occur in patient's with hydrocephalus who are treated with a shunt. This is due to the fact the distal catheter of a ventriculoperitoneal (VP) shunt is placed in  the peritoneal cavity of the abdomen. Although complications associated with a VP shunt aren't less in frequency (when compared to a ventriculoatrial [VA] shunt), they tend to be less severe and have a lower mortality rate. These complications can include: peritoneal pseudocysts, loss of the distal catheter, bowel perforations, and hernias.

What is congenital aqueductal stenosis and hydrocephalus? (Part 2)

How is it diagnosed?

A diagnosis of hydrocephalus resulting from congenital stenosis of the aqueduct of Sylvius is typically suspected based on the presence of characteristic signs and symptoms (found in a physical exam) and/or imaging of the brain. Evidence of a mutation in the L1CAM gene can be used to confirm the diagnosis

How is it treated?

The treatment of HSAS is dependent on the signs and symptoms presented by each individual. For example, in persons with hydrocephalus, treatment involves brain surgery to implant a shunt. If it causes the child to have intellectual disabilities, a combination of early intervention and enrollment in special education classes might be recommended.

BIBLIOGRAPHY

National Institutes of Health (N.D.) Hydrocephalus due to congenital stenosis of aqueduct of Sylvius. Retrieved on February 7, 2018 from https://rarediseases.info.nih.gov/diseases/434/hydrocephalus-due-to-congenital-stenosis-of-aqueduct-of-sylvius

National Institutes of Health (2018). L 1 syndrome. Retrieved on February 7, 2018 from https://ghr.nlm.nih.gov/condition/l1-syndrome.

Online Mendelian inheritance in men (OMIM) (ND). MASA syndrome. Retrieved on February 7, 2018 from http://www.omim.org/entry/303350.

What is congenital aqueductal stenosis and hydrocephalus? (Part 1)

In yesterday's blog - as well as a blog I wrote last year - I touched on aqueductal stenosis. Today, I want to look at congenital aqueductal stenosis and how it causes hydrocephalus. This is a condition that is "near and dear" to me because I found out back in October that I suffer from the condition. Most likely, according to the neurosurgeon, that is what caused my hydrocephalus.

What is hydrocephalus due to congenital aqueductal stenosis (HSAS)?

Hydrocephalus due to congenital aqueductal stenosis (HSAS) is a form of L1 syndrome -- a group of conditions that primarily affects the nervous system and occurs almost exclusively in males. They (L1 syndrome disorders) can vary in severity and include, from most severe to least severe, x-linked hydrocephalus with aqueductual stenosis (HSAS), Spastic paraplegia 1, and x-linked complicated corpus callosum agenesis.

HSAS is an acronym for the characteristic features of the condition: a buildup of cerebrospinal fluid (CSF) in the brain (hydrocephalus) which is often present from birth, muscle stiffness or spasticity, adducted thumbs (meaning they are permanently bent inward toward the palms), and a narrowing (stenosis) of the aqueduct of Sylvius.

How is HSAS passed from parent to child?

HSAS is inherited in an X-linked recessive manner. This means the responsible gene is located on the X chromosome -- one of two sex chromosomes; the other sex chromosome is the Y chromosome. Females have two (2) X chromosomes in each cell while the male has an X chromosome and a Y chromosome in each cell.

One of the female's X chromosomes is "turned off" meaning all of the genes on that chromosome are inactive. If a female has a change (mutation) in the gene on one of their X chromosomes, she is considered to be a carrier but will not exhibit the symptom(s) associated with the mutation. In those rare cases, where the female does experience symptoms, they are generally milder than those experienced by the males. In contrast, a male has only one (1) X chromosome, so, if he inherits a mutation on that chromosome, he will be symptomatic.

Absence of the Aqueduct of of Sylvius

Introduction

Yesterday afternoon I checked in with one of my Facebook hydrocephalus support group and the question came up whether it is possible for the aqueduct of Sylvius can be completely absent from the brain. After some early morning research, the answer to that question is "no". Let me explain what it does and you will better understand why this is the case.

The aqueduct of Sylvius serves as the communicator between the third and fourth ventricles of the brain. Located just above the hypothalamus (pictured at left) in the mid-brain, the Aqueduct of sylvius measures 15 to 18 millimeters long by 1 to 2 millimeters in diameter and is shaped like the neck of a swan. It contains the nuclei of the third and fourth cranial nerves.

What can go wrong?

In 1935, Lysholm suggested that a kink in the aqueduct of Sylvius was considered pathogonomic of space occupying lesions of the posterior fossa. Three years later, in 1938, Hyndman wrote about four (4) cases where tumors were located either in or pressing on the cerebellar vermis causing a kinked aqueduct of Sylvius. This was later reenforced by another researcher who hypothesized that a kink could be a variation of the normal. Below is a case study that seems to agree with that finding.

Case study # 1
While hospitalized for an unrelated issue, a 70 year-old man presented with the clinical triad of dementia, gait instability, and urinary incontinence. A radionuclide cisternagram strongly pointed to normal pressure hydrocephalus since the test demonstrated entrance of the nuclide into the ventricles with no flow over the cerebral convexities. pneumoencephalography indicated a kinked aqueduct, however, there was no displacement of the fourth ventricle. It also showed gross enlargement of the lateral ventricles.

Case study # 2
A 16 year-old boy presented with headache, double vision, nausea, and vomiting. Examination discovered bilateral papiledema (swelling of the optic nerve) accompanied by paresis of the upward gaze. (Just as an FYI, papiledema and paresis of the upward gaze are also characteristic symptoms in hydrocephalus patients -- especially those, such as myself who are unshunted.) A radiograph of the skull identified a Calcified pineal gland and a pneumoencephalagram indicated a kink in his Aqueduct of Sylvius. Based on these findings - and the lack of displacement of the fourth ventricle (which would be indicative of a tumor), he was diagnosed with Pinealoma -- a type of tumor that develops on the pineal gland.

Conclusion

Modern day research has disproved Lysholm's hypothesis that a kink in the aqueduct of Sylvius is pathognomonic - meaning that it is indicative - of space occupying lesions of the posterior fossa. It is now evident that a kink can also occur in persons with other cranial abnormalities such as those pointed out in the case studies cited above.