Pineal Tumors Clinical Presentation

Updated: Jun 17, 2023
  • Author: Jeffrey N Bruce, MD; Chief Editor: Brian H Kopell, MD  more...
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Signs and symptoms associated with pineal tumors are typically secondary to compression of the midbrain, with associated neurologic dysfunction. [46, 10] Further, large growth may lead to obstruction of CSF structures, specifically the aqueduct of Sylvius, leading to hydrocephalus and signs and symptoms of increased intracranial pressure (ICP), such as headaches and lethargy. [10]  If left untreated, hydrocephalus may lead to obtundation and death. Compression of the superior colliculi may lead to gaze palsy and Parinaud syndrome. The rapidity of onset of signs and symptoms depends on the speed of tumor growth.

Children with pineal region tumors can present with endocrine dysfunction. Pseudoprecocious puberty is the most common endocrine disturbance. However, the mechanism by which pineal tumors causes precocious puberty remains unclear. Hypotheses include production of gonadotropins by the tumor, and invasion of the median eminence with subsequent loss of inhibition of sexual or gonadotrophic function. [10] Diabetes insipidus and hypogonadism have also been observed. [47]


Physical Examination

Common signs associated with pineal tumors include the following:

  • Ataxia
  • Papilledema
  • Loss of upward gaze
  • Tremor
  • Altered pupillary reflexes
  • Hyperactive deep tendon reflexes

As mentioned previously, compression of the superior colliculi may result in Parinaud syndrome, an ocular gaze disorder. This syndrome is seen in up to 75% of patients with pineal tumors. [48] Further compression of the periaqueductal gray region may cause mydriasis, convergence spasm, pupillary inequality, and convergence or refractory nystagmus. Impairment of downward gaze becomes more pronounced with tumors involving the ventral midbrain. Patients also can present with motor impairment such as ataxia and dysmetria resulting from compromise of cerebellar efferent fibers within the superior cerebellar peduncle.