Central Nervous System Germinoma Clinical Presentation

Updated: Mar 25, 2021
  • Author: Amani A AlKofide, MD; Chief Editor: Herbert H Engelhard, III, MD, PhD, FACS, FAANS  more...
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The clinical presentation in central nervous system (CNS) germ cell tumors (GCTs) varies, depending on the age of patient, the site of the tumor, and the duration of the disease. [9, 31, 51, 52] Typical presentations by age are as follows:

  • Prenatal/neonate – Congenital teratomas produce polyhydramnios and hydrocephalus; ultrasound will show a heterogeneous echogenic mass with cystic and solid components.

  • Young infants – The teratoma and choriocarcinoma subtypes of nongerminoma GCT are most common in this age group [53] ; these patients may present with irritability, listlessness, failure to thrive, macrocephaly, and bulging fontanelle

  • Beyond infancy – Presentation depends on tumor location

Pineal region tumors

Parinaud syndrome is one of the most common presentation in CNS GCTs, seen in 34-50% of cases. It is due to compression of the tectum. The syndrome includes the following ophthalmic manifestations:

  • Paralysis of upward gaze
  • Loss of light perception and accommodation
  • Nystagmus
  • Failure of convergence

Features of increased intracranial pressure may supervene. These include headache, nausea and vomiting, and papilledema. Somnolence, ataxia, seizures, and behavioral abnormalities may develop.

Precocious puberty may develop in a pre-pubertal child.

Diabetes insipidus and anterior hypopituitarism are rare occurrences and may indicate involvement of the floor of the fourth ventricle and suprasellar area. [16]

Suprasellar region tumors

Patients with suprasellar GCTs usually present with endocrine deficits. These include the following:

  • Anterior hypopituitarism and Diabetes insipidus (DI)

  • Thyroid and/or cortisol deficiency

  • Growth failure from growth hormone deficiency

  • Delayed puberty from gonadotropin deficiency

  • Regression of sexual development or sexual dysfunction

  • Posterior pituitary dysfunction (vasopressin deficiency)

  • Precocious puberty may develop in a pre-pubertal child (due to tumor-induced hypothalamic injury or secretion of human chorionic gonadotropin by the tumor).

Visual disturbances may include diplopia, blurred vision, and diminished vision. Enuresis and psychiatric abnormalities may develop. [9, 30, 54, 10] In general, patients with symptoms of increased intracranial pressure and visual changes tend to present earlier in the disease course than patients with endocrine dysfunction.

Rare presentations

Rare presentations of CNS GCTs include the following:

  • Multiple lesions - GCTs in the pineal, sellar region, corpus callosum, and ventricles was reported in an 18-year-old man who presented with psychosis [55]

  • Wide skull base extension - This was reported in a 15-year-old girl with radiologic evidence of central skull base and suprasellar tumor extending into the cavernous sinus, intraorbital region, ethmoid sinus, sphenoid sinus, and pituitary fossa [56]

  • Optic pathway - Intracranial germ cell tumors may occur primarily in the optic nerve and/or optic chiasma with progressive, painless visual loss [57, 58, 59, 60] ; therefore, biopsy for definitive diagnosis may be required in patients with imaging studies suggestive of optic gliomas who have visual loss with hypothalamic-pituitary-adrenal dysfunction [61]

  • Midbrain outflow tremor (Holmes tremor) - Holmes tremor is a hyperkinetic movement disorder that presents as mild to severe tremors, dystonia, and cerebellar deficits; it has been reported in patients with germinoma [62, 63]


Physical Examination

The clinical evaluation should include the following:

  • General physical examination
  • Check of growth parameters
  • Careful neurological evaluation, with assessment for neurocutaneous stigmata
  • Assessment of primary and secondary sexual characteristics
  • Ophthalmologic exam