Central Nervous System Germinoma Clinical Presentation: History, Physical Examination

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Sections Central Nervous System Germinoma
Overview
Presentation
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Treatment
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Presentation

History

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.^{[8, 25, 41, 42]}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^[43]; 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.^[13]

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.^{[8, 24, 44, 9]}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^[45]
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^[46]
Optic pathway - Intracranial germ cell tumors may occur primarily in the optic nerve and/or optic chiasma with progressive, painless visual loss^{[47, 48, 49, 50]}; 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^[51]
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^{[52, 53]}

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

Differential Diagnoses

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Media Gallery

MRI of the brain - T1 weighted-image- coronal view- showing a heterogeneously enhancing, multicystic mass in the suprasellar region
MRI of the brain - axial view- heterogeneous mass lesion measuring approximately 3.2 x 2.9 x 4.0 cm.
MRI of the brain - T1-weighted image - post-gadolinium sagittal view- A suprasellar lesion that severely compresses the optic chiasm encases the posterior aspect of the optic nerves bilaterally and causes superior displacement of the third ventricle, with significant compression of the brain stem.
Biopsy specimen from an intracranial germ cell tumor - Large tumor cells with large nuclei; prominent nucleoli; and abundant, clear cytoplasm (rich in glycogen) are noted among reactive inflammatory cells--lymphocytes and histiocytes. Elsewhere there are well-formed granulomas, a well-known phenomenon in germinomas, especially of the pineal region.

of 4

Tumor type	β- HCG	AFP	PLAP	c-Kit
Germinoma - Pure	-	-	+/-	+
Germinoma with STGC*	+	-	+/-	+
Endodermal sinus tumor	-	+	+/-	-
Choriocarcinoma	+	-	+/-	-
Embryonal Carcinoma	-	-	+	-
Mixed Teratoma	+/-	+/-	+/-	+/-
Mature Teratoma	-	-	-	-
Immature teratoma	+/-	+/-	-	+/-
*Syncytiotrophoblastic giant cells

Sections Central Nervous System Germinoma
Overview
Presentation
DDx
Workup
Treatment
Medication
Media Gallery
Tables
References

Central Nervous System Germinoma Clinical Presentation

History

Pineal region tumors

Suprasellar region tumors

Rare presentations

Physical Examination

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Central Nervous System Germinoma Clinical Presentation

History

Pineal region tumors

Suprasellar region tumors

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Physical Examination

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