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Medulloblastoma Clinical Presentation

  • Author: George I Jallo, MD; Chief Editor: Amy Kao, MD  more...
Updated: Oct 16, 2014


See the list below:

  • Hydrocephalus
    • Patients with medulloblastoma most commonly have symptoms related to increased intracranial pressure (as a consequence of hydrocephalus). Symptoms usually precede presentation by no more than 2 months.
    • Presenting symptoms are related to the age of the patient.
      • The younger, nonverbal patient presents with behavioral change.
      • Symptoms in younger children include listlessness, irritability, vomiting, and decreased social interactions.
      • Older children and adults complain of headache, especially upon awakening in the morning.
    • Vomiting without nausea is more common in the morning, since being recumbent (eg, sleeping) increases intracranial pressure.
    • Often, symptoms of headache and vomiting prompt an extensive and lengthy workup of the gastrointestinal tract prior to consideration of the CNS.
    • Patients may develop double vision as the sixth cranial nerve becomes stretched from the hydrocephalus. Visual disturbances more commonly are a result of papilledema.
  • Cerebellar symptoms
    • Most commonly found in children, the tumor involves the cerebellar vermis and causes gait ataxia more readily than unilateral symptoms.
    • Adults more commonly harbor the desmoplastic variant of medulloblastoma, which arises in the cerebellar hemisphere. These patients often have symptoms of ipsilateral dysmetria.
    • Head tilt and neck stiffness, caused by meningeal irritation, are complications of tonsillar herniation below the foramen magnum.
    • Alternatively, head tilt can result from trochlear nerve palsy caused by direct tumor compression.
  • Leptomeningeal dissemination
    • Presenting symptoms rarely are related to dissemination of tumor in the CSF.
    • Patients can complain of severe weakness from tumor compression of the spinal cord or nerve roots (eg, radiculopathy).


See the list below:

  • Physiognomy
    • Increasing head circumference often is the only presenting symptom in infants.
    • These infants have full anterior fontanelles with widely split cranial sutures.
  • Funduscopic examination
    • Visual difficulty usually is due to papilledema; however, it also may originate from cranial nerve palsy.
    • Some studies have found papilledema (the most common physical finding) to be present in as many as 90% of patients.
  • Extraocular examination
    • As a consequence of hydrocephalus, the sixth cranial nerve can be compressed at the petroclival ligament, resulting in diplopia and lateral gaze paresis.
    • Fourth cranial nerve palsy can be detected on careful extraocular examination and should be considered in any patient with a head tilt.
    • Patients with fourth cranial nerve dysfunction have greatest difficulty when eyes are rotated medially and depressed (eg, going down stairs). The fourth cranial nerve usually is compressed by direct tumor extension into the cerebral aqueduct.
  • Examination of the extraocular muscles may detect nystagmus, which, although nonspecific, can be related to a lesion of the cerebellar vermis.
  • Cerebellar signs
    • Medulloblastoma most commonly is located midline. Therefore, unilateral dysmetria is less common than either truncal ataxia or a wide-based gait. Latter symptoms are easily observable on tandem gait.
    • As stated previously, desmoplastic medulloblastoma is more common in adults and usually arises in the cerebellar hemisphere.
    • Signs of ipsilateral cerebellar dysfunction in the arm or the leg are more common in this subtype.
  • Torticollis: Head tilt can be a manifestation of either foramen magnum involvement or fourth cranial nerve palsy.


Debate exists over the cellular origin of medulloblastoma.

  • One hypothesis is that the tumor is derived from cells of the external granular layer of the cerebellum.
    • Medulloblastoma cells are cytologically similar to cells of the external granular layer.
    • This is an area of germ cell origin that persists for the first year of life before involuting.
  • Another proposed source of medulloblastoma is the posterior medullary velum, from which undifferentiated cells migrate to the external granular layer. These cells persist only for a short time after birth.
  • Dysregulation of the Hedgehog (Hh)-Gli signaling pathway is implicated in medulloblastoma genesis.
  • Data produced by gene expression profiling revealed that MB can be subdivided into the Wingless signaling pathway-activated group (WNT group), the Sonic Hedgehog signaling pathway-activated group (SHH group), and additional two groups, both of which show neuronal/photoreceptor differentiation (group 3 and group 4).[2]
Contributor Information and Disclosures

George I Jallo, MD Professor of Neurosurgery, Pediatrics, and Oncology, Director, Clinical Pediatric Neurosurgery, Department of Neurosurgery, Johns Hopkins University School of Medicine

George I Jallo, MD is a member of the following medical societies: American Association of Neurological Surgeons, American Medical Association, American Society of Pediatric Neurosurgeons

Disclosure: Received grant/research funds from Codman (Johnson & Johnson) for consulting; Received grant/research funds from Medtronic for consulting.


David A Chesler, MD, PhD Clinical and Research Fellow, Division of Pediatric Neurosurgery, Johns Hopkins University School of Medicine

David A Chesler, MD, PhD is a member of the following medical societies: American Association of Neurological Surgeons, American Medical Association, Congress of Neurological Surgeons

Disclosure: Nothing to disclose.

Faisal A Almayman, MBBS Post Doctorate Research Fellow, Department of Neurosurgery, Johns Hopkins University School of Medicine

Faisal A Almayman, MBBS is a member of the following medical societies: American Association of Neurological Surgeons, Saudi Stroke Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kenneth J Mack, MD, PhD Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Child Neurology Society

Disclosure: Have stock from Cellectar Biosciences; have stock from Varian medical systems; have stock from Express Scripts.

Additional Contributors

Raj D Sheth, MD Chief, Division of Pediatric Neurology, Nemours Children's Clinic; Professor of Neurology, Mayo College of Medicine; Professor of Pediatrics, University of Florida College of Medicine

Raj D Sheth, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, American Neurological Association, Child Neurology Society

Disclosure: Nothing to disclose.


Alvin Marcovici, MD Consulting Staff, Southcoast Neurosurgery

Alvin Marcovici, MD is a member of the following medical societies: American Association of Neurological Surgeons, Congress of Neurological Surgeons, and Phi Beta Kappa

Disclosure: Nothing to disclose.

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CT scan demonstrates a hyperdense lesion within the posterior fossa of an 8-year-old boy who presented with nausea and vomiting.
T1-weighted sagittal MRI of an 8-year-old boy who presented with nausea and vomiting reveals an enhancing tumor within the fourth ventricle. The child underwent a suboccipital craniotomy and resection of his medulloblastoma.
T1-weighted sagittal MRI of 4-year-old boy who presented with gait ataxia and precocious puberty. MRI shows a heterogenous enhancing tumor located within the fourth ventricle with marked hydrocephalus.
T1-weighted axial MRI shows heterogeneous enhancement of the medulloblastoma in a 4-year-old boy who presented with gait ataxia and precocious puberty.
Coronal MRI confirms the presence of the tumor within the fourth ventricle of a 4-year-old boy who presented with gait ataxia and precocious puberty.
High-power magnification hematoxylin and eosin (H&E) section of a typical medulloblastoma
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