Monday, February 13, 2012

The History of Hydrocephalus Treatment



Modern hydrocephalus treatment started in 1949, when the surgeons Frank Nulsen and Eugene Spitz had showed that shunts, which lead the cerebrospinal fluid to the blood veins, were effective in reducing the pressure in the ventricles.

In 1955 Charles Case (Casey) Holter was born with Arnold-Chiari malformation and a myelomeningocele. The after surgery, the inter-cranial pressure continued to raise despite ventricular taps temporarily relieving the pressure.

Shunt operation were attempted, using ventriculoperitoneal shunts constructed with polythene tubing, but they failed.

While visiting his son in hospital John Holter, Casey Holter's father, noticed a how the valve in an inter-venous line allowed a needle to be inserted and withdrawn, without any leakage of fluid. He suggested, to Dr. Spitz, that the usage of this type of one-way valve could prevent blockage of the shunt.

Using criteria specified by Spitz, Holter quickly began to design an model of a shunt valve using his experience as a hydraulics technician. Holter's design was simple and impressed the doctors, but further development was required. A material which could be easily sterilized, and wouldn't be rejected by the body was still needed.

Silicone which had been successfully used in other surgical procedures was found to have the characteristics required, so after switching from polyethylene to silicone catheters there was a significant decrease in shunt failure.

Further development was made to create a valve which could reliably maintain pressure, and also to design valves with different pressure characteristics.

Holter continued manufacturing the shunts by hand, and supplied over 500 per year.

The Spitz-Holter valve was patented, and a company was formed to manufacture the valves. The basic design from their valve can still used in today's hydrocephalus treatment

Saturday, February 11, 2012

National Conference on Hydrocephalus




  • www.hydroassoc.org
    We are most excited to announce our 12th National Conference on Hydrocephalus which will take place in Bethesda, MD on June 27th – July 1st 2012!




  • I have wanted to go to this conference ever since I started learning about my condition. It is great that is is finally getting closer to home.
    I actually started coning up with a plan how I cold get to Maryland with Pepper. Which is diabetic and actually get to attend the conference.
    I could learn so much. I would get some amazing knowledge for my blog. Plus meet some great doctors. Maybe even tell my story and let others know what I do with my blog.
    Then I heard the news I must have not read about the conference. To attendee is $300 plus just about as much for a companion..
    My plan was to rent a small motor home to drive up there which I have not figured out how I will come up with the money yet.
    I do run some ads for some extra money on my blog because my disability just does not pay all my bills...I was hoping to find some extra adds I could run to help pay for the trip. But then this extra expense got thrown at me...
    I don't understand how in the world someone on disability is suppose to afford to go to this conference! I am one of the luck few that was able to work and has long term disability with my social security. But there is still no possible way I will be able to afford to go.
    I was getting my hopes up about thinking how much I could learn and share on my blog..
    I know the professional bloggers ask for donations to go to blogger confrences nn

    Wednesday, February 8, 2012

    Depression

    Depression is not something I usually address on my blog I try to keep my topics to things dealing with hydrocephalus, cancer, diet, exercise and physical therapy. Oh! and of course my blogs name sake Pepper and his kitty Ginger.

    After my doctors appointment yesterday as difficult as it maybe for me I think I need to bring this topic up on my blog. I know this is an issue for many of my friends. Anyone that has ever had brain surgery is more emotional.

    My radiation was in my central nervous system.  So I have always been that person that cried at the drop of a hat.

    At my Dr's appointment yesterday I was giving Dr.P my details about how fatigued I was... All I wanted to do was sleep. I just did not feel like doing anything.

    Dr P thinks I'm depressed! She kinda acted like she could give me something... With my mom asking... LOL

    I spoke up! NO! I don't want to take nothing else!

    Dr.P... Explained... "With everything going on with the infection in my throat. Its understandable that I could be depressed."

    I started out over a month ago with a sinus infection. The infection apparently moved into my throat. I really don't know how to explain what is going on with the infection but the infection is gone.

    I am on my 4th YES I SAID 4TH round of antibiotics. I have this spot in my throat that wont heal.

    The radiation I had as a child makes me more of a risk for cancer so if this spot does not get better the next step is biopsy.

    I think its crazy I radiation to kill the remaining tumor I had and it is haunting me now.

    Monday, February 6, 2012

    Ventriculo-epiplooic shunt for Hydrocephalus

                                                            CAUTION: GRAFIC PICTURES

    Hydrocephalus is a world wide problem with 1 in every 1,000 children born are born with this condition. In developed countries  100,000 procedures are done every year.

    I have may distal in my heart it is considered a VA shunt because  I have too much scar tissue in my abdomen. I would much rather have this procediure than in my heart. Although I am a great fan of the VA shunts.

    The surgeries are so much easier than opening up my abdomen...



    External ventricular drainage is only a temporary solution. Extracranial ventricular drainages are mainly represented by ventriculoperitoneal shunt, ventriculoatrial shunt and lumboperitoneal shunt. Other, very rarely used, extracranial ventricular drainage systems are ventriculopleural shunt, ventriculo-gallbladder shunt, ventriculoureteral shunt, lumboureteral shunt, ventriculomastoid drainage, and drainage into the thoracic duct.

    Nowadays, the most common treatment for hydrocephalus is ventriculoperitoneal shunt, used in more than 90% of patients. The first ventriculoperitoneal shunt was done by Kausch in 1908, but the procedure became widely performed 50 years later, and since 1960, the technique has not changed much.

    We propose a new surgical technique, ventriculo-epiplooic shunt, for treatment of hydrocephalus. In ventriculo-epiplooic shunt the distal end of the catheter can be placed between the layers of the great omentum, performed classical (technique 1) or laparoscopic (technique 3) or intravascular into an epiplooic vein (technique 2). We present three experimental cases, required equipment, surgical technique, indications, advantages compare to other classic shunt procedures (ventriculoperitoneal and ventriculocardiac shunts), and possible complications.

    MATHERIAL & METHODS

    We performed experiment ventriculo-epiplooic shunts on three pigs. The experiment was performed into the Center of Experimental Medicine, University of Medicine and Pharmacy Iuliu Hatieganu, Cluj-Napoca. On each pig we performed one of the three surgical techniques of ventriculo-epilooic shunts. The experiment was done according to the laws in force.

    REQUIRED EQUIPMENTS:

    • Standard tray for brain surgery
    • Standard tray for laparoscopic surgery
    • Shunt tubes (ventricular catheter, peritoneal catheter, atrial catheter), valve (high, medium, low or programmable valve)

    SURGICAL TECHNIQUE:

    Technique 1:
    • Step 1. Cranial step.
    Subcutaneous tunneling is carried from the retromastoidian region, to the lateral neck, and over the anterior thorax and abdomen and the distal tube is inserted into this subcu ta ne ous tun nel.
    Several variants of ventricular shunt placement can be performed. The most common used sites for ventricular catheter placement are described below. We perform a skin incision, 3 cm posterior and superior of the highest point of the helix of the ipsilateral ear for temporo-parietal shunt placement, 4 cm laterally and 6 cm superior of inion for parieto-occipital location, and 1 cm anterior of the coronal suture and 2 cm laterally of the midline for frontal shunt insertion. A burr hole is performed in the above reminded locations. After a minimal dural opening, and coagulation of dural margins the right ventricle is catheterized. Intraoperatory CSF pressure is measured using a manometer and samples of CSF are collected for laboratory examinations.
    Ventricular catheter is connected with the distal catheter by means of a pressure valve; pressure is adapted according to the intraventricular pressure. The presence of CSF flow (drops) through the distal catheter attests the adequate shunt functioning.
    In the retromastoidian area, galea aponeurotica is dissected, achieving a subgaleal cavity, in which the valve will be placed.
    The cranial step is ended by hemostasis and wounds closure. (Fig.1)



    • Step 2. Abdominal step.
    We perform a midline laparotomy, 15 cm long.
    After greater omentum identification, careful dissection between the two epiplooic layers is performed. The distal end of the abdominal catheter is placed between the two layers of the great omentum and fixed by means of suture thread.
    A safety epiplooic fenestration is made, for allowing drainage of an eventually excessive amount of CSF into the abdominal cavity.
    The distal end of the abdominal catheter is fixed in a declive position.
    Careful hemostasis and parietoraphy (in anatomical layers) are done (fig. 2,3,4,5,6).

    Technique 2:
    • Step 2. Abdominal step.
    A similar midline laparotomy, 15 cm long is performed.
    After greater omentum identification, finding of a large vein, tributary to the portal system (epiplooic, gastroepiplooic veins, etc.) is mandatory. The vein is dissected and encircled with two slings. After distal vein ligation, the distal end of catheter is placed intravenous through a minimal venotomy, followed by proximal vein ligation around the catheter. For this technique, which requires an intravascular placement of the distal shunt, we use an atrial catheter that has a thinner end.
    Hemostasis and parietoraphy (in anatomical layers) are done (fig.7).


    Fig. 7. Placement of the distal end of the catheter into a bigepiplooic vein.

    Technique 3:
    • Step 2. Abdominal step.
    The peritoneal cavity is insufflated with CO2.
    Three standard ports for laparoscopic surgery of the supramesocolic space are placed (the first one, measuring 10 mm diameter, is the optical port, placed on the midline just under the umbilicus, and two ports having 5 mm diameter placed within the iliac fossa).
    The distal end of the peritoneal catheter is inserted into the abdominal cavity. The distal end of the tube is identified intraperitoneal.

    Colo-epiplooic laparoscopic dissection is performed, in order to create an opening between the layers of the great omentum. The distal end of the peritoneal catheter is placed and fixed into this newly created space. We perform a safety fenestration on the visceral layer of the great omentum. The catheter is fixed to the omental layers by two suture threads with intracorporeal knot.
    Hemostasis, peritoneal exsufflation, and skin closure are done.

    RESULTS

    We had no early or late postoperative complications following experimental ventriculo-epiplooic shunt on pigs. The pigs had favorable short and long time outcome, and presented no neurological deficits.

    DISCUSSIONS

    Particular intraperitoneal placement of distal catheter
    Classically, the ventriculoperitoneal shunt surgical technique consists in inserting the distal catheter lateral to the umbilicus, on the right midclaviculary line, into the peritoneal cavity, through a minimal peritoneal breach, and then the tube is pushed inside, between intestinal loops.
    Picasa performed lumboperitoneal shunt, draining CSF into the posterior peritoneal space. Several authors reported drainage of the CSF into the omental bursa. In transthoracic transdiaphragmatic ventriculoperitoneal shunt, used in patients with difficult access into the anterior abdomen, secondary to extensive adhesions following repeated revisions of the peritoneal catheter, the distal tube is inserted subdiaphragmatic suprahepatic, into a space free of adherences.

    Peritoneal and great omentum capacity of absorption
    Daily CSF flow is 250-500 ml/day. The peritoneal cavity is most appropriate for CSF absorption. Great omentum has a good absorption capacity, especially in children. It can absorb a good amount of CSF, leaving only a small quantity to flow into the peritoneal cavity. If the amount of CSF overwhelms the capacity of absorption of the great omentum the surplus of CSF can flow into the peritoneal cavity through the fenestration made into the visceral layer.

    Indications of ventriculo-epiplooic shunt
    Main indications for ventriculo-epiplooic shunt are hydrocephalus in patients with history of abdominal surgery, multiple shunt revisions, multiple previous abdominal complications (multiple CSF pseudocysts, CSF ascites, visceral perforations, etc.), extensive peritoneal adherences, high friability of visceral wall and low visceral mobility (associated neural tube defects - myelomeningocele, colagenosis).

    Indications for intravascular shunt are extensive peritoneal adherences, multiple shunt dysfunctions secondary to various abdominal complications, cirrhosis, impairment of peritoneal capacity of absorption, refractory ascites.

    Perioperatory issues
    Before intravascular ventriculo-epiplooic shunt performing CSF must be tested for cellularity and germ growth. Three consecutive sterile CSF culture and cell number/mm3 beneath 5/mm3, allows placement of an intravascular shunt. Patients with intravascular shunts must receive prophylactic treatment for sepsis.

    Advantages of ventriculo-epiplooic shunt
    During standard ventriculoperitoneal shunt procedure, the distal end of the catheter is free into the peritoneal cavity and may be displaced by bowel movements. Avoiding the direct contact between bowel loops and catheter lowers the frequency of catheter migrations, exteriorization and torsion. Fixation of the catheter to the omental layer with suture threads also contributes to this consideration.

    CSF has an irritative effect on the peritoneum, causing a local inflammatory response process, important peritoneal congestion and inflammatory adhesions between viscera and viscera and abdominal wall. Placing the distal catheter between the great omental layers avoids direct contact of catheter and bowel, and adherences occurrence, preventing ileus, bowel voluvulation and visceral perforations.

    Bowel obstruction is a rare ventriculoperitoneal shunt-related complication. Mechanical ileus may occur in shunted patients due to bowel volvulus around intraperitoneal catheter and adherences between catheter and viscera, secondary to the local inflammatory process as a response to a foreign body or irritative CSF, causing intraperitoneal extensive adherences.

    Visceral perforations are rare, but severe complications following standard ventriculoperitoneal shunt, which can occur up to 10 years after initial operation. The mortality in patients with visceral perforation following ventriculoperitoneal shunt is high, reaching 15%. Early perforations are purely due to intraoperatory errors, when a viscus is mistaken for peritoneum, usually in patients with adherences. Late visceral perforations are assumed to be the result of local inflammatory process, as a response to a foreign body (silicone tube) or to irritant CSF. Persistent local inflammatory process and vicinity of tube and viscus favors catheter adherence to viscera, then visceral wall is thinned and finally perforated by repeated movements (bowel movements, respiratory movements). Most likely visceral perforation occur into small bowel and colon (transverse colon), but may also occur into gallbladder, stomach, urinary bladder, scrotum, vagina, etc. Patients with central nervous system malformations, such as neural tube defects (myelomeningocele) and associated hydrocephalus, are prone to visceral perforations, because of the low visceral mobility and high friability of visceral wall.

    Placement of distal tube between the layers prevents direct contact between catheter and viscera, adherence and progressive perforation is hindered. By lowering the incidence of visceral perforations, we diminish the morbidity related to shunt surgery and septic complications. Following visceral perforation occur: ventriculitis, meningitis, meningoencephalitis, cerebral abscesses or empyema and local or generalized peritonitis, involving gram negative bacteria (Escherichia coli). History of visceral perforation with secondary generalized peritonitis causes important intraperitoneal adherence syndrome, which may raise the frequency of further abdominal shunt-related complications. In cases with recurrent abdominal complication, important intraperitoneal adherence syndrome or multiple abdominal surgeries, putting the distal end into the great omentum prevents all of the above.

    Shunt infections are the most common cause of shunt malfunction, occurring in 0.17-30% of cases. Shunt infections may early, occurring immediately after surgery due to intraoperatory contamination and late, occurring after a period of time longer than 9 month. Late infections are seeding from an abdominal site. Pathogenesis usually involves direct erosion of a viscus by the distal catheter and translocation of intestinal bacteria along the tube.

    Predisposal factors for shunt infection are: low birth weight, prematurity, age under 1 year old, history of multiple shunt malfunctions, CSF leaks, history of intraventricular hemorrhage or central nervous system infections, previous abdominal surgery, myelomeningocele, hyperproteinnorrachia, immunosuppression, and prolong hospital stay. Septic process leads to adherences, straps and fibrous reshuffling between abdominal viscera and predispose to distal shunt dysfunctions and pseudocysts formation in the future. Isolating the distal end of the catheter diminishes shunt infections occurrence.

    Epiplooic nods become the first stop for any shunt infection, limiting infection spreading. Liver is the second station in stopping infection spreading.
    During the first phase of any abdominal sepsis of various etiology (peritonitis, bowel perforation, abscesses, inflammatory process of abdominal viscera, etc.), the great omentum limits the direct contact of the distal catheter with infection.

    CSF pseudocysts occur in 1-4.5% cases with standard ventriculoperitoneal shunts. Pathophysiology of CSF pseudocysts is still unclear, but some predisposal factors for CSF pseudocysts had been reported: shunt infections with microaerophilic or anaerobic bacteria, low grade sepsis, mute clinical peritonitis, history of multiple shunt revisions, history of multiple abdominal complications, prior CSF pseudocysts, history of prior abdominal surgery, hyperproteinnorrachia, impaired absorption of the peritoneum, and silicone allergy.

    Infection seems to pay a central role in CSF pseudocysts pathophysiology. Pseudocysts may be result of a self-limited shunt infection with microaerophilic or anaerobic bacteria, that cause infraclinical peritonitis. Peritoneum and abdominal viscera response to this infraclinical shunt infection by isolating the distal end of the catheter by fibrous tissue, forming pseudocysts.
    Cystic “walls” are formed by fibrous tissue without epithelial lining, proving that the pseudocyst is a consequence of the local inflammatory response. Gaskill et al. reported acute shunt infections in 16% patients with pseudocysts, and history of shunt infections in 41.6% cases. Rainov et al. found active shunt infection in 30% cases with CSF pseudocysts. Adherence syndrome may be the result of low, prolonged local inflammatory response of the peritoneum to CSF, which can be highly irritating for peritoneum.

    In patients with CSF pseudocysts important changes into the peritoneal cavity occur, with extensive adherences, straps fibrous reshuffling between abdominal viscera that shown that these people are prone for developing recurrent pseudocysts. By placing the distal end into the great omentum, the irritating CSF in not drained any more into the peritoneal cavity, preventing adherence formation.
    CSF ascites is a rare complication of ventriculoperitoneal shunts. Ascites is a life-threatening complication, leading to shock, sepsis, respiratory failure, and hepatorenal failure. Although the pathopysiology of CSF ascites is unclear, some pathogenic factors were described: impaired absorption of the peritoneum, excessive production of CSF (choroid plexus papilloma, choroid plexus hypertrophy), hyperproteinnorrachia (optic nerve gliomas, craniopharyngiomas, suprasellar tumors), shunt infections and peritoneal tumoral seeding secondary to central nervous system tumors. Ascites may be a nonspecific, chronic inflammatory reaction to degradation of silicon rubber. Most likely CSF ascites is the result of impairment of CSF absorption of the peritoneum, secondary to either an increased CSF volume, rare, found in patients with choroid plexus papilloma or choroid plexus hypertrophy which overwhelms the peritoneal capacity of liquid absorption or secondary to a peritoneal pathology, which do not allow proper absorption. Intraperitoneal CSF accumulation provides a similar local condition as ascites of different etiology to become infected. Spontaneous bacterial peritonitis can be found in patients with CSF ascites.

    Placing the tube into the great omentum, limits the quantity of CSF that reaches the peritoneum. By absorbing a good amount of CSF by the great omentum, it lowers the frequency of ascites. In refractory CSF ascites intravascular ventriculo-epiplooic shunt is recommended. By placing the distal catheter into an epipoolic vein, the entire quantity of CSF flows into the portal system, being a good therapeutic option in refractory ascites.

    Inguinal hernia occurs with a frequency of 3.8-16.8% in patients with ventriculoperitoneal shunt, predominantly in infants, toddlers and young children. Predisposal factors for occurrence of inguinal hernias are: persistence of processus vaginalis (patent processus vaginalis can be present in 60-70% infants during the first 3 months, in 50-60% children 1 year old and up to 40% in children 2 years old), increased abdominal pressure, impaired absorption of the peritoneum and secondary peritoneal tumor seeding from central nervous system tumors. In 50% cases hernias are bilateral. Persistence of processus vaginalis is mandatory for inguinal hernia occurrence. Processus vaginalis can be entirely permeably, or it can have septum or cysts. Patent processus vaginalis can close with aging. Age pays is a central role in inguinal hernia occurrence, 30% of inguinal hernias develop in infants 0-3 month old, and 10% in children 1 year old. Permanent increased abdominal pressure, may maintain its patency, by keeping a pressure gradient and does not allow closure of the vaginalis. By placing the distal catheter into the great omentum all, or almost all, quantity of CSF is absorbed, canceling the pressure gradient, allowing procesus vaginalis closing with age. Ventriculo-epiplooic shunt lowers the intraperitoneal pressure, diminishing the incidence inguinal hernia, in patients with persistent processus vaginalis.
    Advantages of intravascular ventriculo-epiplooic shunt compare with ventriculoatrial shunts.

    Intravascular shunts carry high morbidity.
    Complications specific to ventriculoatrial shunts such as arrhythmias, ventricular wall perforations, valvular lesions, rupture of subvalvular apparatus (chordae tendineae), endocarditis, pulmonary thromboembolism, pulmonary hypertension, cor pulmonale, right heart failure are avoided by intravascular ventriculo-epiplooic shunt.

    Sepsis is a consequence of shunt infection. For ventriculoatrial shunt the rate of this complication is 10-15%. Sepsis is usually caused by coagulase-negative Staphylococci, especially Staphylococcus aureus and Staphylococcus epidermidis. Sepsis with Staphylococcus aureus is acute or fulminant, while sepsis with Staphylococcus epidermidis is indolent. The incidence of sepsis is lowered because the epiplooic nods and liver are two important stations in stopping infection spreading.
    Shunt nephritis, an immune-complex-mediated glomerulonephritis, is a rare complication of ventriculocardiac shunts. Germs known to cause shunt nephritis are: Staphylococcus epidermidis, Staphylococcus aureus, Corynebacterium bovis, Lysteria monocytogenes, Pseudomonas aeruginosa, Propionibacterium acnes, etc. These bacteria strongly adhere to the silicone tube, escaping the immune defense system. Their presence produces a continuous antigenic stimulation, with antigen-antibody complexes, secondary activation of the complement system and deposits of C3 and antigen-antibody complexes (IgM and IgG) in the glomerular capillary walls. Shunt nephritis has dramatic consequences, such as progressive renal failure, massive proteinuria, hematuria, azotemia, hypoproteinemia, anemia, low levels of the complement protein C3, modestly elevated levels of C-reactive protein and cryoglobulins, high blood pressure, edema, recurrent fever, enlarged liver and spleen, arthritis, and skin rash.

    By placing the catheter into an epiplooic vein, draining the CSF into the portal circulation, and passing through the liver the incidence of shunt nephritis can be diminished.
    Laparoscopic treatment decreases risks of open surgery, diminishes adherence formation, allows peritoneal cavity exploration, viscerolisis and treatment of associated lesions.

    CONCLUSIONS

    Ventriculo-epiplooic shunt is a new surgical technique for treatment of hydrocephalus. The surgical technique is safe, easily performed, with surgical steps without significant morbidity, and with favorable postoperatory outcome on short and long term. Complications specific to other shunt systems, ventriculoperitoneal and ventriculoatrial, can be successfully avoided by this technique. In ventriculo-epiplooic shunt, by preventing the direct contact between the distal catheter and bowel, visceral perforations, bowel obstruction, shunt infection, and CSF pseudocyst occurrence is avoided. In intravascular ventriculo-epiplooic shunt, by draining CSF into the portal circulation, and passing through the liver, the incidence of a serious complication, shunt nephritis, can be diminished. Ventriculo-epiplooic shunt has multiple advantages compared to other classic shunt techniques, ventriculoperitoneal and ventriculoatrial, with no additional stipulated complications.

    Sunday, February 5, 2012

    Fetal Hydrocephalus

    As many of you know I was not born with hydrocephalus. But 1 out 0f every 500 children are born with this incurable condition. It can be managed over a life time but what is the fetal hydrocephalus?

    Fetal hydrocephal is when a blockage is caused where the CSF can't drain properly. Either the child was born unable to drain spinal fluid properly or there is a blockage.

    Below you can read several different causes of fetal hydrocephalus.

    I will be honest I don't know all the if ands and buts to fetal hydrocephalus... It is still a learning processes for me... if you ever have any questions I have great resources to help you...
    http://www.fetalhydrocephalus.com/hydro/info-Congenital-Hydrocephalus.aspx


    General Information About Congenital ... - Fetal Hydrocephalus

    www.fetalhydrocephalus.com/.../info-Congenital-Hydrocephalus.asp...Cached - Similar
     
    www.fetalhydrocephalus.com/.../info-Congenital-Hydrocephalus.asp...Cached - Similar
    The brain is constantly producing fluid (known as cerebrospinal fluid or CSF) as ... Aqueductal Stenosis - This is the most common form of fetal hydrocephalus, ... There is a narrow channel which connects the third and fourth ventricles of ... When this aqueduct is blocked, or was never properly formed, the CSF cannot drain ...

    Aqueductal Stenosis - This is the most common form of fetal hydrocephalus, and it is the form that our baby has. There is a narrow channel which connects the third and fourth ventricles of the brain to allow CSF to drain. This channel is called the Aqueduct of Sylvius. When this aqueduct is blocked, or was never properly formed, the CSF cannot drain properly and this condition is called aqueductal stenosis. Blockage of the aqueduct can be caused by a malformed aqueduct, a tumor, swelling due to infection or intraventricular bleeding. This blockage results in the enlargement of the ventricles. This type is generally not caused by chromosomal abnormalities.

  • X-Linked Aqueductal Stenosis - I put this in its own category because while it is caused by a blockage in the aqueduct, the reasons and associated outcomes are quite different. In this case the cause is a mutation in the L1CAM gene on Xq28. No, I don't know exactly what that means either, but I do know that it means that in addition to the problems caused by the pressure, you can expect other types of problems as well that are caused by the gene mutation. Many (but not all) babies with this type have abducted thumbs. Abducted thumbs can often be seen on an ultrasound and the doctor will probably look for this indicator if a diagnosis of hydrocephalus has been made.

    X-Linked Aqueductal Stenosis is an x-linked recessive condition. There are two chromosomes that form a pair which determine gender in a person. For a boy the pair is made up of one X and one Y chromosome. For a girl the pair contains two X's. In order for a person to have a condition that is carried by a recessive chromosome, both chromosomes in the pair must have the genetic mutation that causes the condition. For this reason it is almost, but not quite, impossible for X-Linked Aqueductal Stenosis to be passed on to a girl. X-linked conditions are carried only on the X chromosome, and since boys only have one X chromosome, there is no second one to cancel it out. Therefore if a boy has the mutation in their X chromosome, they will have X-Linked Aqueductal StenosisAqueductal Stenosis. Since the mutation is extremely rare, the odds of having it in both the mother and father to pass down to the girl to form a pair of mutated chromosomes are very, very small.
  • Chiari Malformations - When the indented bony space at the lower rear of the skull, known as the posterior fossa, is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid causing hydrocephalus.

    Normally the cerebellum, fourth ventricle and brainstem sit just above the foramen magnum, which is the opening in the bottom of the skull where the spinal cord attaches to the brainstem. There are several different degrees of Chiari Malformations, depending on how far down the cerebellum has been pushed.
    • Chiari I - where just a portion of the cerebellum has been pushed down into the spinal canal. A Chiari I may not have any symptoms, or may cause problems with balance, dizziness, blurred vision, loss of muscle strength or spasticity.
    • Chiari II - In this type not only has the cerebellum been pushed downward into the spinal canal, but so has the fourth ventricle and the medulla (lower portion of the brainstem). This type is generally associated with spina bifida (myelomeningocele) which is a condition where the spinal cord does not close properly before birth.
    • Chiari III - Portions of the cerebellum and/or brainstem are pushed out through a hole in the back or neck. This type has a high fetal and infant mortality rate, and a high rate of severe complications in those that survive. The hole defect is closed with surgery and a shunt is placed for the hydrocephalus. This form is very rare.
    • Chiari IV - An extremely rare form where the cerebellum does not fully form, and which is rarely survived.


    For more information on Chiari malformations, please visit the following links: