Ependymoma Clinical Presentation

Updated: Apr 14, 2015
  • Author: Jeffrey N Bruce, MD; Chief Editor: Jules E Harris, MD, FACP, FRCPC  more...
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Presentation

History

The clinical history associated with ependymomas varies depending upon the age of the patient and the location of the lesion. The duration of symptoms prior to diagnosis usually varies from 1-36 months; most patients have symptoms from 3-6 months.

  • For children with masses in the fourth ventricle, a history of progressive lethargy, headache, nausea, and vomiting may be experienced secondary to increased intracranial pressure from obstructive hydrocephalus. As the tumor extends along the floor of the fourth ventricle, it may cause multiple cranial-nerve palsies (primarily VI-X), as well as cerebellar dysfunction.
  • For those children who present prior to closure of cranial sutures, enlarging head circumference secondary to obstructive hydrocephalus also may be part of the clinical history.
  • Supratentorial ependymomas may be associated with increased intracranial pressure manifested as headache, nausea, vomiting, and cognitive impairment. Headaches can vary in intensity and quality and are frequently more severe in the early morning or upon first awakening.
  • Changes in personality, mood, and concentration can be early indicators or may be the only abnormalities observed. Seizures are a presenting symptom in 20% of patients, and focal neurologic deficits may also be prominent.
  • Spinal ependymomas are usually associated with a history of progressive neurologic deficit related to involvement of ascending or descending nerve tracts, exiting peripheral nerves, and pain that correlates with the level of the lesion.
  • Dissemination of the tumor through the cerebrospinal fluid (CSF) is observed in fewer than 10% of patients at diagnosis when ependymoblastomas are excluded. The incidence is higher with infratentorial ependymomas than with supratentorial tumors (9% vs 1.6%).
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Physical

Intracranial ependymoma findings are as follows:

  • Neurologic symptoms and signs affecting patients with intracranial ependymoma can be either general or focal, and they reflect the location of the tumor.
  • At the time of diagnosis, the most common signs of infratentorial ependymomas include papilledema and ataxia. Nystagmus is present in 40-50% of patients at the time of diagnosis.
  • Supratentorial lesions often present as hemiparesis, sensory loss, visual loss, aphasia, and cognitive impairment.

Cervical/thoracic ependymoma findings are as follows:

  • Patients with spinal tumors in the upper segments of the cervical cord can present with pain or paresthesia in the occipital or cervical region, stiffness of the neck, and weakness and wasting of neck muscles.
  • Below the lesion, a spastic tetraplegia or hemiplegia and weakness of the ventrolateral region may occur.
  • Cutaneous sensation may be affected below the lesion with concurrent involvement of the descending trigeminal nucleus.
  • When considering radicular symptoms associated with cervical tumors, note that nerve roots in the cervical region exit above the pedicle of the like-numbered vertebra. Anatomically, the cervical nerve root exits in close relation to the undersurface of the pedicle through the neural foramen.

Characteristic findings associated with various cervical and upper thoracic levels are outlined as follows:

  • C4 (paralysis of the diaphragm)
  • C5 (atrophic paralysis of the deltoid, biceps, supinator longus, rhomboid, and spinate muscles): The upper arms hang limp at the side. The sensory level extends to the outer surface of the arm. The biceps and supinator reflexes are lost.
  • C6 (paralysis of triceps and wrist extensors): The forearm is held semiflexed, and a partial wrist drop is present. The triceps reflex is lost. Sensory impairment extends to a line running down the middle of the arm slightly to the radial side.
  • C7 (paralysis of the flexors of the wrist and of the flexors and extensors of the fingers): Efforts to close the hands result in extension of the wrist and slight flexion of the fingers (ie, preacher's hand). The sensory level is similar to that of the sixth cervical segment but slightly more to the ulnar side of the arm.
  • C8 (atrophic paralysis of the small muscles of the hand with resulting clawhand [main-en-griffe]): Horner syndrome, unilateral or bilateral, results from lesions at this level and is characterized by the triad of ptosis, small pupil (ie, miosis), and loss of sweating on the face. Sensory loss extends to the inner aspect of the arm and involves the fourth and fifth fingers and the ulnar aspect of the middle finger.
  • T1: Lesions rarely cause motor symptoms because this nerve root provides little functional innervation of the small hand muscles. Other signs of cervical tumors include nystagmus, especially with tumors in the upper segment. This condition is presumably caused by damage to the descending portion of the median longitudinal fasciculus. Horner syndrome may be found with intramedullary lesions in any portion of the cervical cord if the descending sympathetic pathways are affected.

Thoracic ependymoma findings are as follows:

  • Unlike the cervical or lumbar region of the cord, where motor dysfunction is easily discernible, tumors in the thoracic region are localized more by the sensory examination.
  • Determining the location of lesions in the upper half of the thoracic cord by testing the strength of intercostal muscles is difficult.
  • The Beevor sign, in which the umbilicus moves upward when the supine patient attempts to flex the head on the chest against resistance, can be used to localize lesions below T10.
  • Abdominal skin reflexes usually are absent below the lesion.

Lumbar ependymoma findings are as follows:

  • The location of a lumbar lesion can be deduced easily from the patient's root level of sensory loss and associated motor weakness.
  • Radicular pain and weakness are associated with nerve root compression. In the lumbar region, the nerve root exits below and in close proximity to the pedicle of its like-numbered vertebra with the intervertebral disc space situated well below the pedicle.
  • Tumors that compress only the first and second lumbar segments cause loss of the cremasteric reflexes. The abdominal reflexes are preserved, while knee and ankle jerks are increased.
  • If the tumor affects the third and fourth segments of the lumbar cord and does not involve the roots of the cauda equina, weakness of the quadriceps, loss of the patellar reflexes, and hyperactive Achilles reflexes occur. More commonly, lesions at this level also involve the cauda equina with resulting flaccid paralysis of the legs as well as loss of knee and ankle reflexes.
  • If the spinal cord and cauda equina are affected concurrently, spastic paralysis of one leg with increased ankle reflexes ipsilaterally and flaccid paralysis with loss of reflexes contralaterally may occur.

Myxopapillary ependymoma of the conus and cauda equina

The presenting symptom of tumors that involve the conus or cauda equina is pain in the back, rectal area, or both lower legs, often leading to a misdiagnosis of sciatica. Although the two regions are related anatomically, the following clinical features can serve to distinguish lesions of the conus from those of the cauda equine:

  • Spontaneous pain is rarely associated with conus lesions, whereas it is usually the most prominent symptom in patients who have cauda equina lesions
  • The pain of a cauda equina lesion is severe and radicular in nature, involving the perineum, thighs, and legs, often asymmetrically, whereas the pain of a conus lesion is usually bilateral and symmetric
  • Symmetric saddle anesthesia and dissociation mark the sensory deficit of a conus lesion secondary to the compromise of crossing fibers; patients with sensory deficits attributable to cauda equina lesions do not have dissociation and often present with unilateral or asymmetric findings
  • Motor dysfunction is symmetric for conus lesions and asymmetric for cauda equina lesions
  • Autonomic dysfunction, such as bladder dysfunction and impotence, is typically an early sign in patients with conus medullaris lesions, whereas it is a late finding in patients with cauda equina lesions

Patients with spinal tumors in the conus and cauda equina can have a combination of symptoms. As the tumor grows, flaccid paralysis of the legs, atrophy of the leg muscles, and foot drop may occur. Fasciculations may be observed in the atrophied muscles. Sensory loss may affect the perianal or saddle area as well as the remaining sacral and lumbar dermatomes. This loss may be slight, or it may be so severe that a trophic ulcer develops over the lumbosacral region, buttocks, hips, or heels. Signs of raised intracranial pressure may be observed with ependymomas of this region if the cerebrospinal fluid (CSF) protein content is high.

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Causes

See the list below:

  • Ependymomas have no known environmental cause.
  • As noted earlier in Pathophysiology, a number of genetic mutations have been associated with ependymomas. However, a causal relationship between these mutations and tumor progression has not yet been determined.
  • Intramedullary ependymomas have been associated with neurofibromatosis type I.
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