Embryonal Tumors of the Central Nervous System Clinical Presentation

Updated: May 08, 2023
  • Author: Nir Shimony, MD; Chief Editor: Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP, FANA  more...
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No pathognomonic signs or symptoms exist. The onset at presentation is insidious in many cases.

The observed symptoms are due to the neuroanatomical location of the tumor or are a consequence of increased intracranial pressure. They include the following:

  • Irritability, lethargy, and decreased social interaction 

  • Intermittent vomiting, sometimes with history of nausea

  • Headaches - especially those that lead to waking up in the middle of the night and those that are more pronounced in the morning

  • Visual blurring/change

  • Neurological deficit - The anatomical location will dictate the possible neurological deficit. In some cases, the neurological deficit is temporary and secondary to either brain edema, mass effect, or even as part of post-seizure deficit (eg, Todd's paralysis)



Physical characteristics vary in relation to the anatomical location of the tumor  and include the following:

  • Papilledema 

  • Ataxia 

  • Nystagmus with or without gaze palsy 

  • Cranial nerve palsy 

  • Dysdiadochokinesia, hypotonia, dysmetria, particularly in lateralized lesions of the cerebellum 

  • Increased head circumference in children younger than 2 years 

  • Bulging fontanelle in infants

  • Motor and sensory deficits


Risk factors

Certain conditions have increased associations with embryonal tumors. They include the following:

  • Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disorder with mutations of the PTCH gene. [15] It is characterized by a combination of neoplastic and malformative disorders including nevoid basal cell carcinoma, jaw keratocysts, skeletal abnormalities, ovarian fibromas, and ectopic calcifications. Approximately 5% of mutation carriers develop medulloblastoma at an early age.

  • Turcot syndrome is a heterogenous group of autosomal dominant disorders with occurrence of multiple colorectal neoplasms and medulloblastomas or glioblastomas.

  • Li-Fraumeni syndrome is an autosomal dominant disorder characterized by multiple tumors in children, including soft-tissue sarcomas, osteosarcomas, breast cancer, and leukemias, and a higher incidence of brain tumors than in the general population.



Complications of embryonal tumors may include the following:

  • Meningitis (postoperative)

  • Hydrocephalus

  • Immunosuppression due to chemotherapy and/or radiotherapy

  • Paralysis

  • Cranial nerve palsy

  • Hypothyroidism

  • Cognitive dysfunction

  • Growth retardation