History

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

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

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

Differential Diagnoses

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Media Gallery

Cerebellar medulloblastoma. This MRI (axial view, T2-weighted image) demonstrates the heterogeneity of the tumor.
Cerebellar medulloblastoma. This sagittal view MRI without contrast demonstrates characteristic midline cerebellar location with mild obstructive hydrocephalus.
Cerebellar medulloblastoma. This axial view CT scan with contrast shows a partially enhancing mass arising in the midline from cerebellum and filling the fourth ventricle.
Large supratentorial mass on a toddler. This tumor pathology was of non-medulloblastoma embryonal tumor with final diagnosis of ETMR. On this image, axial T2 with slight hyper intensity
DWI sequence shows restricted diffusion. Matched ADC map (not shown) correlated with dark signal
T1 with contrast of large right frontal tumor, shows very slight patchy enhancement (ETMR)

of 6

Author

Nir Shimony, MD Assistant Professor of Neurological Surgery, Division of Pediatric Neurosurgery, Department of Surgery, St Jude Children’s Research Hospital, Le Bonheur Neuroscience Institute, Le Bonheur Children’s Hospital, Baptist Children’s Hospital, and Semmes Murphey Clinic, University of Tennessee Health Science Center College of Medicine; Adjunct Faculty, Department of Neurosurgery, Johns Hopkins University School of Medicine

Nir Shimony, MD is a member of the following medical societies: American Association of Neurological Surgeons, American Epilepsy Society, Congress of Neurological Surgeons, International Society of Pediatric Neurosurgery, Society for Neuro-Oncology

Disclosure: Nothing to disclose.

Coauthor(s)

George I Jallo, MD Professor of Neurosurgery, Pediatrics, and Oncology, Director, Clinical Pediatric Neurosurgery, Department of Neurosurgery, Johns Hopkins University School of Medicine

George I Jallo, MD is a member of the following medical societies: American Association of Neurological Surgeons, American Medical Association, American Society of Pediatric Neurosurgeons

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Jorge C Kattah, MD Head, Associate Program Director, Professor, Department of Neurology, University of Illinois College of Medicine at Peoria

Jorge C Kattah, MD is a member of the following medical societies: American Academy of Neurology, American Neurological Association, New York Academy of Sciences

Disclosure: Nothing to disclose.

Chief Editor

Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP, FANA Professor of Pediatrics, Neurology, Neurosurgery, and Psychiatry, Medical Director, Tulane Center for Autism and Related Disorders, Tulane University School of Medicine; Pediatric Neurologist and Epileptologist, Ochsner Hospital for Children; Professor of Neurology, Louisiana State University School of Medicine

Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP, FANA is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, American Medical Association, American Neurological Association, The Society of Federal Health Professionals (AMSUS), Child Neurology Society, Southern Pediatric Neurology Society

Disclosure: Nothing to disclose.

Additional Contributors

Subrata Ghosh, MD, MBBS, MS Staff Physician, Division of Neurosurgery, St Luke's Episcopal Hospital, Texas Medical Center; Assistant Professor of Neurosurgery, Baylor College of Medicine

Subrata Ghosh, MD, MBBS, MS is a member of the following medical societies: American Association of Neurological Surgeons, American Medical Association, Congress of Neurological Surgeons, Texas Medical Association

Disclosure: Nothing to disclose.

Draga Jichici, MD, FRCPC, FAHA Associate Clinical Professor, Division of Medicine, Department of Critical Care Medicine and Neurology, Co-Director, Neurosurgical Intensive Care Unit, Co-Director, Transcranial Doppler Ultrasound, Hamilton Health Sciences, McMaster University School of Medicine, Canada

Draga Jichici, MD, FRCPC, FAHA is a member of the following medical societies: American Academy of Neurology, Canadian Critical Care Society, Canadian Medical Protective Association, Canadian Neurocritical Care Society, Canadian Neurological Sciences Federation, Neurocritical Care Society, Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Roberta J Seidman, MD Associate Professor of Pathology, Director of Neuropathology, Department of Pathology, Renaissance School of Medicine at Stony Brook University, Stony Brook Medicine

Roberta J Seidman, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuropathologists, New York Association of Neuropathologists (The Neuroplex)

Disclosure: Nothing to disclose.