Rare Infectious Disease News

Disease Profile

Desmoplastic infantile ganglioglioma

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

DIG

Categories

Rare Cancers

Summary

Desmoplastic infantile gangliomas (DIGs) are rare brain tumors that are normally located in the frontal or parietal lobes of the brain. They are usually diagnosed before 18 months of age with most infants presenting with a short duration of symptoms. Although seizures are not commonly observed, a bulging fontanelle, rapid head growth, vomiting, and a sunset sign are usually noted. The standard treatment for DIGs is surgical resection (surgical procedure in which the portion of the brain with the tumor is removed).[1]

Symptoms

Most infants with DIGs do not have seizures; however, they usually have a bulging fontanelle, rapid head growth, sunset sign, and vomiting.[1]

Diagnosis

In addition to detecting the signs and symptoms commonly seen in DIGs, head CT scans and MRIs may reveal the presence of this type of brain tumor.[1]

Treatment

Surgical resection (removal of the area of the brain with the tumor) has been the standard treatment reported in the medical literature. The size of the resection is probably based on the size of the tumor, although the extent of the resection is not documented for all cases reported in the medical literature. Adjuvant therapy is generally not performed when a gross total resection can be performed. When total resection is not possible, some of suggested chemotherapy, as the effects of radiation on extremely young children may be harmful.[1]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Cancer.Net, oncologist-approved cancer information from the American Society of Clinical Oncology, provides information about desmoplastic infantile ganglioma. Click on the link to read this information.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

In-Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Desmoplastic infantile ganglioglioma. Click on the link to view a sample search on this topic.

References

  1. Smith SH. Uncommon Pediatric Brain Tumors. In: Raghavan D, Brecher ML, Johnson DH, Meropol NJ, Moots PL, Rose PG. Textbook of Uncommon Cancer. 3rd ed. England: John Wiley & Sons Ltd; 2006;
  2. Fadare O, Mariappan MR, Hileeto D, Zieske AW, Kim JH, Ocal IT. Desmoplastidc Infantile Ganglioglioma: cytologic findings and differential diagnosis on aspiration material. CytoJournal. 11 January 2005;

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