Pediatric Medulloblastoma Clinical Presentation
- Author: Tobey J MacDonald, MD; Chief Editor: Max J Coppes, MD, PhD, MBA more...
Although 70-90% of patients with medulloblastomas present with a history of headaches, emesis, and lethargy, these symptoms are generally intermittent and subtle. Duration of symptoms for 3 months or more before diagnosis is common.
Increased intracranial pressure (ICP)
Early symptoms are secondary to increased ICP. The classic triad consists of morning headaches, vomiting, and lethargy. Headache consists of head pain present upon arising that is relieved by vomiting and gradually lessens during the day. Cushing triad (ie, hypertension, bradycardia, and hypoventilation), an uncommon finding in children with increased intracranial pressure, usually indicates impending herniation.
Initial signs of increased ICP are usually subacute, nonspecific, and nonlocalizing.
School-aged children may complain of vague intermittent headaches and fatigue. They may demonstrate declining academic performance and personality changes.
Infants may present with irritability, anorexia, and developmental delay.
With increasing tumor size and invasion into the surrounding brain tissue, more characteristic symptoms appear.
One symptom is progressively worsening ataxia involving the lower extremities, often with relative sparing of the trunk and upper extremities.
Brain stem deficits
Tumor infiltration of the brain stem or increased ICP may result in diplopia and multiple other cranial nerve findings, such as facial weakness, tinnitus, hearing loss, head tilt, and stiff neck.
Uncommonly, patients may present with back pain or leg weakness secondary to spinal metastasis.
The earliest signs are nonlocalized and caused by increased ICP. Later signs are generally due to tumor invasion of the surrounding tissue.
Funduscopic evaluation reveals papilledema or optic pallor in infants.
Palsy of cranial nerve VI resulting in the inability to abduct one or both eyes is common.
Infants may have the "setting sun" sign. This is demonstrated by impaired upgaze and seemingly forced downward deviation of the eyes.
Measurement of head circumference in infants with open cranial sutures also may reveal macrocephaly.
Localized deficits in truncal steadiness, upper extremity coordination, and gait are common.
Brain stem findings
Invasion into the brain stem may cause loss of conjugate gaze (gaze palsy) or the inability to adduct one eye on attempted lateral gaze. This is observed most commonly in combination with deficits of cranial nerves V, VII, and IX.
Invasion into the cerebellopontine angle results in facial weakness and hearing loss, often with associated unilateral cerebellar deficits.
Epidemiological studies investigating parental occupational exposures, environmental exposures and maternal nutritional intake have not proven a direct link between such factors and the development of childhood brain tumors.
Familial and heritable disease
Medulloblastoma is associated with recessively inherited Turcot and ataxia-telangiectasia syndromes.
As many as 5% of patients with autosomal dominant nevoid basal cell carcinoma (Gorlin) syndrome develop medulloblastoma. These tumors demonstrate loss of heterozygosity at band 9q22-q23, the region containing the PTCH tumor suppressor gene associated with Gorlin syndrome.
The most frequent cytogenetic abnormality in sporadic medulloblastoma is an isochromosome 17q [i(17q)]. Of tumors analyzed, 40-50% have a deletion of the short arm of chromosome 17, implicating the presence of a tumor suppressor gene that maps to 17p, which is distinct from the p53 gene. Alternatively, a gene on 17q may be related to transformation because of increased copy number.
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