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Treatment for brain AVMs can be symptomatic, and patients should be followed by a neurologist for any seizures, headaches, or focal neurologic deficits. AVM-specific treatment may also involve endovascular embolization, neurosurgery or radiosurgery.
Embolization, that is, cutting off the blood supply to the AVM with coils, particles, acrylates, or polymers introduced by a radiographically guided catheter, may be used in addition to neurosurgery or radiosurgery, but is rarely successful in isolation except in smaller AVMs. Gamma knife may also be used.
Head circumference measurements should be obtained regularly and monitored carefully to detect hydrocephalus. Neurosurgical procedures to relieve hydrocephalus are important. A ventriculoperitoneal shunt may be required in some infants. A pediatric cardiologist should be consulted to manage high-output failure, if present. Often patients need to be intubated. In most cases, the fistulous arteries feeding into the Vein of Galen must be blocked, thereby reducing the blood flow into the vein. Open surgery has a high morbidity and mortality. Recent advances over the past few decades have made endovascular embolization the preferred method of treatment. These treatments are preferred because they offer little threat to the surrounding brain tissue. However, there have been several reported cases of arteriovenous malformations recurring. The young age of many patients, the complex vascular anatomy, and the sensitive location of the Vein of Galen offer considerable challenges to surgeons. Another treatment option is Radiotherapy. Radiotherapy, also called radiosurgery, involves the use of focused beams to damage the blood vessel. Radiotherapy is often not pursued as a treatment because the effects of the procedure can take months or years and there is risk of damaging adjacent brain tissue.
Surgery is not always an option when the anatomy of the malformation creates too much of a risk. Recent improvements in endovascular procedures have made many cases, which were not surgically accessible, treatable. Endovascular treatments involve delivering drugs, balloons, or coils to the site of the malformation through blood vessels via catheters. These treatments work by limiting blood flow through the vein. There is, however, still risk of complications from endovascular treatments. The wall of the vein can be damaged during the procedure and, in some cases, the emboli can become dislodged and travel through the vascular system. Two-dimensional echocardiography with color-flow imaging and pulsed Doppler ultrasound was used to evaluate one fetus and five neonates with a Vein of Galen malformation. Color-flow imaging and pulsed Doppler ultrasonography provided anatomical and pathophysiological information regarding cardiac hemodynamics and intracranial blood flow; with the patient's clinical status, these methods provided a reliable, noninvasive means to evaluate the effectiveness of therapy and the need for further treatment in neonates with Vein of Galen malformations. When none of these procedures are viable, shunting can be used to ameliorate the pressure inside the varix. Seizures usually are managed with antiepileptic medications.
The surgical treatment involves the resection of the extracranial venous package and ligation of the emissary communicating vein. In some cases of SP, surgical excision is performed for cosmetic reasons. The endovascular technique has been described by transvenous approach combined with direct puncture and the recently endovascular embolization with Onyx.
Surgery is not always recommended for syringomyelia patients. For many patients, the main treatment is analgesia. Physicians specializing in pain management can develop a medication and treatment plan to ameliorate pain. Medications to combat any neuropathic pain symptoms such as shooting and stabbing pains (e.g. gabapentin or pregabalin) would be first-line choices. Opiates are usually prescribed for pain for management of this condition. Facet injections are not indicated for treatment of syringomyelia.
Drugs have no curative value as a treatment for syringomyelia. Radiation is used rarely and is of little benefit except in the presence of a tumor. In these cases, it can halt the extension of a cavity and may help to alleviate pain.
In the absence of symptoms, syringomyelia is usually not treated. In addition, a physician may recommend not treating the condition in patients of advanced age or in cases where there is no progression of symptoms. Whether treated or not, many patients will be told to avoid activities that involve straining.
Since the natural history of syringomyelia is poorly understood, a conservative approach may be recommended. When surgery is not yet advised, patients should be carefully monitored. Periodic MRI's and physical evaluations should be scheduled at the recommendation of a qualified physician.
Examples of possible complications include shunt malfunction, shunt failure, and shunt infection, along with infection of the shunt tract following surgery (the most common reason for shunt failure is infection of the shunt tract). Although a shunt generally works well, it may stop working if it disconnects, becomes blocked (clogged), infected, or it is outgrown. If this happens the cerebrospinal fluid will begin to accumulate again and a number of physical symptoms will develop (headaches, nausea, vomiting, photophobia/light sensitivity), some extremely serious, like seizures. The shunt failure rate is also relatively high (of the 40,000 surgeries performed annually to treat hydrocephalus, only 30% are a patient's first surgery) and it is not uncommon for patients to have multiple shunt revisions within their lifetime.
Another complication can occur when CSF drains more rapidly than it is produced by the choroid plexus, causing symptoms - listlessness, severe headaches, irritability, light sensitivity, auditory hyperesthesia (sound sensitivity), nausea, vomiting, dizziness, vertigo, migraines, seizures, a change in personality, weakness in the arms or legs, strabismus, and double vision - to appear when the patient is vertical. If the patient lies down, the symptoms usually vanish quickly. A CT scan may or may not show any change in ventricle size, particularly if the patient has a history of slit-like ventricles. Difficulty in diagnosing overdrainage can make treatment of this complication particularly frustrating for patients and their families. Resistance to traditional analgesic pharmacological therapy may also be a sign of shunt overdrainage "or" failure.
The diagnosis of cerebrospinal fluid buildup is complex and requires specialist expertise. Diagnosis of the particular complication usually depends on when the symptoms appear - that is, whether symptoms occur when the patient is upright or in a prone position, with the head at roughly the same level as the feet.
The first step after diagnosis is finding a neurosurgeon who is experienced in the treatment of syringomyelia. Surgery is the treatment for syringomyelia. Evaluation of the condition is necessary because syringomyelia can remain stationary for long periods of time, and in some cases progress rapidly.
Surgery of the spinal cord has certain characteristic risks associated with it, and the benefits of a surgical procedure on the spine have to be weighed against the possible complications associated with any procedure. Surgical treatment is aimed at correcting the condition that allowed the syrinx to form. It is vital to bear in mind that the drainage of a syrinx does not necessarily mean the elimination of the syrinx-related symptoms but rather is aimed at stopping progression. In cases involving an Arnold-Chiari malformation, the main goal of surgery is to provide more space for the cerebellum at the base of the skull and upper cervical spine without entering the brain or spinal cord. This often results in flattening or disappearance of the primary syrinx or cavity, over time, as the normal flow of cerebrospinal fluid is restored. If a tumor is causing syringomyelia, removal of the tumor is the treatment of choice, if this is considered to be safe.
Surgery results in stabilization or modest improvement in symptoms for most patients. Delay in treatment may result in irreversible spinal cord injury. Recurrence of syringomyelia after surgery may make additional operations necessary; these may not be completely successful over the long term.
In some patients it may also be necessary to drain the syrinx, which can be accomplished using a catheter, drainage tubes, and valves. This system is also known as a shunt. Shunts are used in both the communicating and noncommunicating forms of the disorder. First, the surgeon must locate the syrinx. Then, the shunt is placed into it with the other end draining cerebrospinal fluid (CSF) into a cavity, usually the abdomen. This type of shunt is called a ventriculoperitoneal shunt and is particularly useful in cases involving hydrocephalus. By draining syrinx fluid, a shunt can arrest the progression of symptoms and relieve pain, headache, and tightness. Syringomyelia shunts are not always successful and can become blocked as with other central nervous system shunts.
The decision to use a shunt requires extensive discussion between doctor and patient, as this procedure carries with it greater risk of injury to the spinal cord, infection, blockage, or hemorrhage and may not necessarily work for all patients. Draining the syrinx more quickly does not produce better outcomes, but a shunt may be required if the fluid in the syrinx is otherwise unable to drain.
In the case of trauma-related syringomyelia, the surgeon operates at the level of the initial injury. The syrinx collapses at surgery, but a tube or shunt is usually necessary to prevent re-expansion.
Treatment for individuals with Dandy–Walker Syndrome generally consists of treating the associated problems, if needed.
A special tube (shunt) to reduce intracranial pressure may be placed inside the skull to control swelling. Endoscopic third ventriculostomy is also an option.
Treatment may also consist of various therapies such as occupational therapy, physiotherapy, speech therapy or specialized education. Services of a teacher of students with blindness/visual impairment may be helpful if the eyes are affected.
The treatment for Bonnet–Dechaume–Blanc syndrome is controversial due to a lack of consensus on the different therapeutic procedures for treating arteriovenous malformations. The first successful treatment was performed by Morgan et al. They combined intracranial resection, ligation of ophthalmic artery, and selective arterial ligature of the external carotid artery, but the patient did not have retinal vascular malformations.
If lesions are present, they are watched closely for changes in size. Prognosis is best when lesions are less than 3 cm in length. Most complications occur when the lesions are greater than 6 cm in size. Surgical intervention for intracranial lesions has been done successfully. Nonsurgical treatments include embolization, radiation therapy, and continued observation. Arterial vascular malformations may be treated with the cyberknife treatment. Possible treatment for cerebral arterial vascular malformations include stereotactic radiosurgery, endovascular embolization, and microsurgical resection.
When pursuing treatment, it is important to consider the size of the malformations, their locations, and the neurological involvement. Because it is a congenital disorder, there are not preventative steps to take aside from regular follow ups with a doctor to keep an eye on the symptoms so that future complications are avoided.
Hydrocephalus can be successfully treated by placing a drainage tube (shunt) between the brain ventricles and abdominal cavity. There is some risk of infection being introduced into the brain through these shunts, however, and the shunts must be replaced as the person grows. A subarachnoid hemorrhage may block the return of CSF to the circulation.
This should be distinguished from external hydrocephalus. This is a condition generally seen in infants and involving enlarged fluid spaces or subarachnoid spaces around the outside of the brain. This is generally a benign condition that resolves spontaneously by 2 years of age. (Greenberg, Handbook of Neurosurgery, 5th Edition, pg 174). Imaging studies and a good medical history can help to differentiate external hydrocephalus from subdural hemorrhages or symptomatic chronic extra-axial fluid collections which are accompanied by vomiting, headaches and seizures.
Hydrocephalus treatment is surgical, creating a way for the excess fluid to drain away. In the short term, an external ventricular drain (EVD), also known as an extraventricular drain or ventriculostomy, provides relief. In the long term, some patients will need any of various types of cerebral shunt. It involves the placement of a ventricular catheter (a tube made of silastic) into the cerebral ventricles to bypass the flow obstruction/malfunctioning arachnoidal granulations and drain the excess fluid into other body cavities, from where it can be resorbed. Most shunts drain the fluid into the peritoneal cavity (ventriculo-peritoneal shunt), but alternative sites include the right atrium (ventriculo-atrial shunt), pleural cavity (ventriculo-pleural shunt), and gallbladder. A shunt system can also be placed in the lumbar space of the spine and have the CSF redirected to the peritoneal cavity (Lumbar-peritoneal shunt). An alternative treatment for obstructive hydrocephalus in selected patients is the endoscopic third ventriculostomy (ETV), whereby a surgically created opening in the floor of the third ventricle allows the CSF to flow directly to the basal cisterns, thereby shortcutting any obstruction, as in aqueductal stenosis. This may or may not be appropriate based on individual anatomy. For infants, ETV is sometimes combined with choroid plexus cauterization, which reduces the amount of cerebrospinal fluid produced by the brain. The technique, known as ETV/CPC was pioneered in Uganda by neurosurgeon Ben Warf and is now in use in several U.S. hospitals.
Currently there is no cure for PWS. Treatment differs from person to person and depends on the extent and severity of the blood vessels malformations and the degree of correction possible. The treatments can only control for the symptoms and often involve a multidisciplinary care as mentioned in diagnosis. AVMs and AVFs are treated with surgery or with embolization. If there are differences in the legs because of overgrowth in the affected limb, then the patient is referred to an orthopedist. If legs are affected to a minimal degree, then the patient may find heel inserts to be useful as they adjust for the different lengths in the legs and can walk normally.The port-wine stains may be treated by dermatologists. Supportive care is necessary and may include compression garments. These garments are tight-fitting clothing on the affected limb and helps with reducing pain and swelling. This can also help with protecting the limb from bumps and scrapes that cause bleeding. Also again based on the symptoms, the doctors may recommend antibiotics or pain medications.
Surgical care might also be an option for PWS patients. Surgeons may perform debulking procedure in which abnormal and overgrown tissues are removed. If PWS is affecting a foot or leg, the limbs can become quite large. And orthopedic surgeon can operate on the limb to reshape the limb. If the growth of the limb is more than one inch a procedure called epiphysiodesis may be performed. This procedure interrupts the growth of the leg and stops the leg from growing too big.
Other treatment options include: embolization and laser therapy. Embolization includes a substance injected by an interventional radiologists that can help in the elimination of the abnormal connections between the arteries and veins. According to Parkes Weber syndrome—Diagnostic and management paradigms: A systematic review, published in July 2017, reported that embolization alone or in combination with surgical removal of arteriovenous malformations leads to significant clinical improvement. Laser therapy can also help lighten capillary malformations and can speed up the healing process of the bleeding lesions.
Also other specialists are needed for dealing with the progression of the disease such as: physical therapists, occupational therapists and counselors. Physical therapists can help ease the pain and increase the range of movements of the arm or leg that is overgrown. Occupational therapists could help with the development of motor skills impeded by physical problems. The classic port-wine stains may make the patient feel uncomfortable and counselors can help with the psychological and social issues.
PWS is a progressive condition and advances with age. It is dependent on: the extent of the disease and overgrowth, condition of the patient’s heart, if the blood vessels are responsive to treatment, overall health of the patient, tolerance of medications and treatments. Based on these factors the prognosis is fair to good. The deformity and overgrowth tend to progress with time until epiphyseal closure. A lot of medical attention is needed to correct the blood vessels.
Currently, there is no cure for porencephaly because of the limited resources and knowledge about the neurological disorder. However, several treatment options are available. Treatment may include physical therapy, rehabilitation, medication for seizures or epilepsy, shunt (medical), or neurosurgery (removal of the cyst). According to the location, extent of the lesion, size of cavities, and severity of the disorder, combinations of treatment methods are imposed. In porencephaly patients, patients achieved good seizure control with appropriate drug therapy including valproate, carbamazepine, and clobazam. Also, anti-epileptic drugs served as another positive method of treatment.
Once a patient with neurocutaneous melanosis becomes symptomatic, little can be done to improve prognosis as there is no effective treatment for the disorder. Most therapies are designed to treat the symptoms associated with the disorder, mainly those related to hydrocephalus. A ventriculoperitoneal shunt to relieve intracranial pressure is the preferred method.
Chemotherapy and radiotherapy have been shown to be ineffective in cases of neurocutaneous melanosis where malignancy is present. Additionally, due to the total infiltration of the central nervous system by these lesions, surgical resection is not a viable treatment option.
It has been demonstrated that early embryonic, post-zygotic somatic mutations in the NRAS gene are implicated in the pathogenesis of NCM. Recently, experimental treatment with MEK162, a MEK inhibitor, has been tried in a patient with NCM and progressive symptomatic leptomeningeal melanocytosis. Pathological studies with immunohistochemical and Western Blot analyses using Ki67 and pERK antibodies showed a potential effect of MEK inhibiting therapy. Further studies are needed to determine whether MEK inhibitors can effectively target NRAS-mutated symptomatic NCM.
Despite many years of research, the central question of whether to treat AVMs has not been answered. All treatments, whether involving surgery, radiation, or drugs, have risks and side-effects. Therefore, it might be better in some cases to avoid treatment altogether and simply accept a small risk of coming to harm from the AVM itself. This question is currently being addressed in clinical trials.
According to NIH clinical trials.gov, research on the port-wine stain and its relation to polymorphisms of RASA1 has commenced in November 2010 and expected to end in November 2019. The purpose of the study is to assess how the port-wine stains can lead to complex syndromes such as PWS. Currently there is little knowledge about the epidemiology of the stains and how they progress with the disease. The research is ongoing and the results are yet to be published.
In an another review published in July 2017 (discussed in treatments and prognosis), Banzic et. al. discussed clinical findings that embolization works really well in patients with PWS. Also, embolization along with surgical resection that targets arteriovenous malformations reliably leads to significant clinical improvements.
A neurosurgeon performs a same day surgery to insert an endoscope, which drains the cyst internally.
Treatment is often largely dependent on the type of cyst. Asymptomatic cysts, termed pseudocysts, normally require active monitoring with periodic scans for future growth. Symptomatic (producing or showing symptoms) cysts may require surgical removal if they are present in areas where brain damage is unavoidable, or if they produce chronic symptoms disruptive to the quality of life of the patient. Some examples of cyst removal procedures include: permanent drainage, fenestration, and endoscopic cyst fenestration.
Because this malformation is rare and there are extremely few individuals living with this condition, treatment is limited. Treatment consists of carefully managing the condition in a controlled manner. Proceeding with a bone graft when the child reaches school age is also recommended.
The severity of the symptoms associated with porencephaly varies significantly across the population of those affected, depending on the location of the cyst and damage of the brain. For some patients with porencephaly, only minor neurological problems may develop, and those patients can live normal lives. Therefore, based on the level of severity, self-care is possible, but for the more serious cases lifelong care will be necessary. For those that have severe disability, early diagnosis, medication, participation in rehabilitation related to fine-motor control skills, and communication therapies can significantly improve the symptoms and ability of the patient with porencephaly to live a normal life. Infants with porencephaly that survive, with proper treatment, can display proper communication skills, movement, and live a normal life.
There is no cure for this condition. Treatment is supportive and varies depending on how symptoms present and their severity. Some degree of developmental delay is expected in almost all cases of M-CM, so evaluation for early intervention or special education programs is appropriate. Rare cases have been reported with no discernible delay in academic or school abilities.
Physical therapy and orthopedic bracing can help young children with gross motor development. Occupational therapy or speech therapy may also assist with developmental delays. Attention from an orthopedic surgeon may be required for leg length discrepancy due to hemihyperplasia.
Children with hemihyperplasia are thought to have an elevated risk for certain types of cancers. Recently published management guidelines recommend regular abdominal ultrasounds up to age eight to detect Wilms' tumor. AFP testing to detect liver cancer is not recommended as there have been no reported cases of hepatoblastoma in M-CM patients.
Congenital abnormalities in the brain and progressive brain overgrowth can result in a variety of neurological problems that may require intervention. These include hydrocephalus, cerebellar tonsillar herniation (Chiari I), seizures and syringomyelia. These complications are not usually congenital, they develop over time often presenting complications in late infancy or early childhood, though they can become problems even later. Baseline brain and spinal cord MRI imaging with repeat scans at regular intervals is often prescribed to monitor the changes that result from progressive brain overgrowth.
Assessment of cardiac health with echocardiogram and EKG may be prescribed and arrhythmias or abnormalities may require surgical treatment.
At the beginning of the surgery a tourniquet will be applied to the limb. A tourniquet compresses and control the arterial and venous circulation for about 2 hours. The constriction band must be dissected very carefully to avoid damaging the underlying neurovasculature. When the constriction band is excised, there will be a direct closure. This allows the fatty tissue to naturally reposition itself under the skin.
“With complete circumferential constriction bands, it is recommended that a two-stage correction approach be used. At the first operation, one-half of the circumference is excised and the other one-half can be excised after three to six months. This will avoid any problems to the distal circulation in the limb, which may already be compromised. Lymphedema, when present, will significantly improve within a few weeks of the first surgery.”
For the direct closure of the defect after dissecting a constriction band there are two different techniques:
1. Triangular flaps; For this technique the circumference between the two borders must be measured. Depending on the difference the number of triangular flaps can be decided. With a triangular flap you can create more skin.
2. Z/W-plasty; “Z-plasty is a plastic surgery technique that is used to improve the functional and cosmetic appearance of scars. It can elongate a contracted scar or rotate the scar tension line. The middle line of the Z-shaped incision (the central element) is made along the line of greatest tension or contraction, and triangular flaps are raised on opposite sides of the two ends and then transposed.”
In rare cases, if diagnosed in utero, fetal surgery may be considered to save a limb that is in danger of amputation or other deformity. This operation has been successfully performed on fetuses as young as 22 weeks. The Melbourne's Monash Medical Centre in Australia, as well as multiple facilities in the United States of America, have performed successful amniotic band release surgery.
Because newborns can breathe only through their nose, the main goal of postnatal treatment is to establish a proper airway. Primary surgical treatment of FND can already be performed at the age of 6 months, but most surgeons wait for the children to reach the age of 6 to 8 years. This decision is made because then the neurocranium and orbits have developed to 90% of their eventual form. Furthermore, the dental placement in the jaw has been finalized around this age.
Surgical correction is recommended when a constriction ring results in a limb contour deformity, with or without lymphedema.
Structural nasal deformities are corrected during or shortly after the facial bipartition surgery. In this procedure, bone grafts are used to reconstruct the nasal bridge. However, a second procedure is often needed after the development of the nose has been finalized (at the age of 14 years or even later).
Secondary rhinoplasty is based mainly on a nasal augmentation, since it has been proven better to add tissue to the nose than to remove tissue. This is caused by the minimal capacity of contraction of the nasal skin after surgery.
In rhinoplasty, the use of autografts (tissue from the same person as the surgery is performed on) is preferred. However, this is often made impossible by the relative damage done by previous surgery. In those cases, bone tissue from the skull or the ribs is used. However, this may give rise to serious complications such as fractures, resorption of the bone, or a flattened nasofacial angle.
To prevent these complications, an implant made out of alloplastic material could be considered. Implants take less surgery time, are limitlessly available and may have more favorable characteristics than autografts. However, possible risks are rejection, infection, migration of the implant, or unpredictable changes in the physical appearance in the long term.
At the age of skeletal maturity, orthognathic surgery may be needed because of the often hypoplastic maxilla. Skeletal maturity is usually reached around the age of 13 to 16. Orthognathic surgery engages in diagnosing and treating disorders of the face and teeth- and jaw position.
No definite standard treatment have been set. This is because treatments of the disease has been poorly studied as of 2014. Often in cases of inflammatory parenchymal disease, "corticosteroids should be given as infusions of
intravenous methylprednisolone followed by a slowly tapering course of oral steroids". It is suggested that therapy should be continued for a period of time even when the symptoms get suppressed because early relapse may occur. Sometimes, the medical doctors may suggest a different steroid depending on the nature of the disease, the severity, and the response to steroids. According to several studies, parenchymal NBD patients successfully suppress the symptoms with the prescribed steroids. As for non-parenchymal patients, there is no general consensus on how to treat the disease. The reason is that the mechanisms of cerebral venous thrombosis in BD are still poorly understood. Some doctors use anti-coagulants to prevent a clot. On the other hand, some doctors only give steroids and immunosuppressants alone.