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3 affected domains of neurological function:
- Cerebral hemisphere (15%)
- Cranial Nerves (35%)
- Spinal cord and roots (60%)
Signs reported
- headache
- mental status change
- confusion
- cognitive impairment
- seizures
- hemiparesis
- gait instability
Other symptoms that are less common are dementia, autonomic dysfunction, cranial nerve abnormalities, spinal symptoms such as limb weakness and paresthesia, and bowel and bladder dysfunction. Diplopia is the most common symptom of cranial nerve dysfunction. Trigeminal sensory or motor loss, cochlear dysfunction, and optic neuropathy are also common findings. Spinal signs and symptoms include weakness, dermatomal or segmental sensory loss, and pain in the neck, back, or following radicular patterns.
Early symptoms are easily overlooked, sometimes mistaken for the normal changes of aging or attributed to noise exposure earlier in life, often delaying diagnosis. The most prevalent symptoms in patients suffering from vestibular schwannoma is hearing loss (94 %), tinnitus (83 %) and vertigo (49 %).
Recurring headaches are an uncommon symptom, also tending to occur only in cases of larger tumors.
A schwannoma is a usually-benign nerve sheath tumor composed of Schwann cells, which normally produce the insulating myelin sheath covering peripheral nerves.
Schwannomas are homogeneous tumors, consisting only of Schwann cells. The tumor cells always stay on the outside of the nerve, but the tumor itself may either push the nerve aside and/or up against a bony structure (thereby possibly causing damage). Schwannomas are relatively slow-growing. For reasons not yet understood, schwannomas are mostly benign and less than 1% become malignant, degenerating into a form of cancer known as neurofibrosarcoma. These masses are generally contained within a capsule, and so surgical removal is often successful.
Schwannomas can be associated with neurofibromatosis type II, which may be due to a loss-of-function mutation in the protein merlin. They are universally S-100 positive, which is a marker for cells of neural crest cell origin.
Schwannomas of the head and neck are a fairly common occurrence and can be found incidentally in 3–4% of patients at autopsy. Most common of these is a vestibular schwannoma, a tumor of the vestibulocochlear nerve that may lead to tinnitus and hearing loss on the affected side. Outside the cranial nerves, schwannomas may present on the flexor surfaces of the limbs. Rare occurrences of these tumors in the penis have been documented in the literature.
Verocay bodies are seen histologically in schwannomas.
Tumors within the nerve canaliculi initially present with unilateral sensorineural hearing loss, unilateral tinnitus, or disequilibrium (vertigo is rare, on account of the slow growth of neuromas). Speech discrimination out of proportion to hearing loss, difficulty talking on the telephone are frequent accompaniments. Tumors extending into the CPA will likely present with disequilibrium or ataxia depending on the amount of extension on the brainstem. With brainstem extension, midfacial and corneal hypesthesia, hydrocephalus, and other cranial neuropathies become more prevalent.
For example, involvement of CN V from a cerebellopontine mass lesion often results in loss of the ipsilateral (same side of the body) corneal reflex (involuntary blink).
Patients with larger tumours can develop Bruns nystagmus ('dancing eyes') due to compression of the flocculi.
Signs of the tumor resulting from increased intracranial pressure are present in 91% of patients, with vomiting, homonymous visual field defects and headache being the most common symptoms.
Other symptoms are ear ringing and dizziness.
Subsequent to diagnosis of sensorineural hearing loss, and differential diagnosis of retrocochlear or neural etiologies,
radiological assessment of the CPA is performed to assess the presence of anatomical retrocochlear lesions.
A lateral pontine syndrome is a lesion which is similar to the lateral medullary syndrome, but because it occurs in the pons, it also involves the cranial nerve nuclei of the pons.
Damage to the following areas produces symptoms (from medial to lateral):
Neoplastic or malignant meningitis, also called meningitis carcinomatosa and leptomeningeal carcinomatosis, is the development of meningitis due to infiltration of the subarachnoid space by cancerous cells. Malignant cells come from primary cancer such as breast cancer or from a primary brain tumor like medulloblastoma. Neoplastic Meningitis (NM) was first reported in the 1870s with the most common cause being breast cancer, lung cancer, and malignant melanoma.
A neuroma (plural: neuromata or neuromas) is a growth or tumor of nerve tissue. Neuromas tend to be benign (i.e. not cancerous); many nerve tumors, including those that are commonly malignant, are nowadays referred to by other terms.
Neuromas can arise from different types of nervous tissue, including the nerve fibers and their myelin sheath, as in the case of genuine neoplasms (growths) like ganglioneuromas and neurinomas.
The term is also used to refer to any swelling of a nerve, even in the absence of abnormal cell growth. In particular, traumatic neuroma results from trauma to a nerve, often during a surgical procedure. Morton's neuroma affects the foot.
Neuromas can be painful, or sometimes, as in the case of acoustic neuromas, can give rise to other symptoms.
Some of the benign varieties of neuroma, in the broadest sense of the term, are not neoplasms.
- Traumatic neuroma follows different forms of nerve injury (often as a result of surgery). They occur at the end of injured nerve fibres as a form of ineffective, unregulated nerve regeneration; it occurs most commonly near a scar, either superficially (skin, subcutaneous fat) or deep (e.g., after a cholecystectomy). They are often very painful. Synonyms include scar neuroma, amputation neuroma, or pseudoneuroma.
- Morton's neuroma (a mononeuropathy of the foot) is another example of the more general usage of the term "neuroma". Some prefer the term "Morton's metatarsalgia", thus avoiding the term "neuroma" and its association with tumors.
Vision deficit usually occurs when lesions grow in the occipital lobe of the brain, causing a blurred daze for patients, especially in sensitivity to light. Focusing upon finer objects becomes a challenge, along with edge and border detection. Driving behind the wheel is dangerous when astroblastoma grows in residual tissue size, since peripheral vision can be insufficient. Horizontal nystagmus and other involuntary eye disorders can occur.
Small tumors (e.g., < 2.0 cm) usually are incidental findings at autopsy without having caused symptoms. Larger tumors may cause symptoms, depending on the size and location.
- Focal seizures may be caused by meningiomas that overlie the cerebrum.
- Progressive spastic weakness in legs and incontinence may be caused by tumors that overlie the parasagittal frontoparietal region.
- Tumors of the Sylvian aqueduct may cause myriad motor, sensory, aphasic, and seizure symptoms, depending on the location.
- Increased intracranial pressure eventually occurs, but is less frequent than in gliomas.
- Diplopia (Double vision) or uneven pupil size may be symptoms if related pressure causes a third and/or sixth nerve palsy.
Jacod Syndrome is commonly associated with a tumor of the middle cranial fossa (near the apex of the orbit); but it can have several other causes.
Since the motor system can be impaired with severe cases, the malignant spread of astroblastoma throughout the body may press against or paralyze the spinal cord, diminishing sensation in upper and lower extremities.
Diagnostic methods vary, and are based on specific possible etiologies; however, an X-ray computed tomography scan of the face (or magnetic resonance imaging, or both) may be helpful.
A Posterior Circulation Infarct (POCI) is a type of cerebral infarction affecting the posterior circulation supplying one side of the brain.
Posterior Circulation Stroke Syndrome (POCS) refers to the symptoms of a patient who clinically appears to have had a posterior circulation infarct, but who has not yet had any diagnostic imaging (e.g. CT Scan) to confirm the diagnosis.
It can cause the following symptoms:
- Cranial nerve palsy AND contralateral motor/sensory defect
- motor or sensory defect
- Eye movement problems (e.g.nystagmus)
- Cerebellar dysfunction
- Isolated homonymous hemianopia
It has also been associated with deafness.
This produces ipsilateral horizontal gaze palsy and facial nerve palsy and contralateral hemiparesis, hemisensory loss, and internuclear ophthalmoplegia.
Pain is the most common symptom at presentation. The symptoms seen are due to spinal nerve compression and weakening of the vertebral structure. Incontinence and decreased sensitivity in the "saddle area" (buttocks) are generally considered warning signs of spinal cord compression by the tumor. Other symptoms of spinal cord compression include lower extremity weakness, sensory loss, numbness in hands and legs and rapid onset paralysis. The diagnosis of primary spinal cord tumors is very difficult, mainly due to its symptoms, which tend to be wrongly attributed to more common and benign degenerative spinal diseases.
Spinal cord compression is commonly found in patients with metastatic malignancy. Back pain is a primary symptom of spinal cord compression in patients with known malignancy. It may prompt a bone scan to confirm or exclude spinal metastasis. Rapid identification and intervention of malignant spinal tumors, often causing spinal cord compression, is key to maintaining quality of life in patients.
Neurofibromatosis (NF1) in early life may cause learning and behavior problems – about 60% of children who have NF1 have a mild form of difficulty in school. In terms of signs the individual might have are the following:
- Six or more light brown dermatological spots ("café au lait spots")
- At least two neurofibromas
- At least two growths on the eye's iris
- Abnormal growth of the spine (scoliosis)
The clinical spectrum of the condition is broad. In other words, people with NF II may develop a wide range of distinct problems.
1. Acoustic nerve: 90% of the patients show bilateral acoustic schwannomas on magnetic resonance imaging (MRI).
2. Other cranial nerves and meninges: About 50% of patients develop tumours in other cranial nerves or meningiomas.
3. Spinal cord: About 50% of the patients develop spinal lesions. Only 40% of the spinal lesions are symptomatic. The spinal tumours in NF II are separated in two groups. Intramedullary lesions are located within the spinal tissue and usually belong to the so-called spinal astrocytomas or ependymomas. The extramedullary lesions are located within the small space between the surface of the spinal cord and the bony wall of the spinal canal. These tumours belong to the schwannomas and meningiomas.
4. Skin: If children show neurofibromas, a diagnostic procedure should be performed to decide which form of neurofibromatosis causes the alterations.
5. Eyes: Studies on patients with NF II show that more than 90% of the affected persons suffer eye lesions. The most common alteration in NF II is the juvenile subcapsular cataract (opacity of the lens) in young people.
"Presenting symptoms" (initial concern that brings a patient to a doctor) of a lesion of the nervus vestibulocochlearis due to a tumour in the region of the cerebello-pontine angle are the following: hearing loss (98%), tinnitus (70%), dysequilibrium (67%), headache (32%), facial numbness and weakness (29% and 10% respectively).
"Clinical signs" (alterations that are not regarded by the patient and that can be detected by the doctor in a clinical examination) of the lesion in discussion are: abnormal corneal reflex (33%), nystagmus (26%), facial hypesthesia (26%).
Evaluation (study of the patient with technical methods) shows the enlargement of the porus acousticus internus in the CT scan, enhancing tumours in the region of the cerebello-pontine angle in gadolinium-enhanced MRI scans, hearing loss in audiometric studies and perhaps pathological findings in electronystagmography. Some times there are elevated levels of protein in liquor study.
In NF II, acoustic neuromas usually affect young people, whereas in sporadic forms of acoustic neuromas, the appearance of the tumour is limited to the elderly.
There are two forms of the NF II:
- The "Wishart-Phenotype" is characterized by multiple cerebral and spinal lesions in patients younger than 20 years and with rapid progression of the tumours.
- Patients that develop single central tumours with slow progression after age of 20 are thought to have the "Feiling-Gardner-Phenotype".
Neurofibromatosis type II (also known as MISME syndrome - multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition which may be inherited or may arise spontaneously. The main manifestation of the condition is the development of symmetric, benign brain tumors in the region of the cranial nerve VIII, which is the "auditory-vestibular nerve" that transmits sensory information from the inner ear to the brain. Many people with this condition also experience visual problems. NF II is caused by mutations of the "Merlin" gene, which seems to influence the form and movement of cells. The principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions. Historically the underlying disorder has not had any therapy due to the cell function caused by the genetic mutation. However, new drug research and some clinical trials have shown some promise in having beneficial effects. Collaborative research to find better treatments is ongoing, such as the work of the Synodos NF-2 Consortium of scientists.
In most cases, symptoms of NF1 are mild, and individuals live normal and productive lives. In some cases, however, NF1 can be severely debilitating and may cause cosmetic and psychological issues. The course of NF2 varies greatly among individuals. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brain stem, can be life-threatening. Most individuals with schwannomatosis have significant pain. In some extreme cases the pain will be severe and disabling.