Granulomatous Amebic Encephalitis

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Disease Ontology 12 DOID:0050246

UMLS 71 C0338428

NIH Rare Diseases : ⁵² Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp ., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies , or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis . No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.

MalaCards based summary : Granulomatous Amebic Encephalitis, also known as granulomatous amebic encephalitis due to acanthamoeba, is related to primary amebic meningoencephalitis and amoebiasis due to free-living amoebae. An important gene associated with Granulomatous Amebic Encephalitis is DCAF8 (DDB1 And CUL4 Associated Factor 8), and among its related pathways/superpathways are Autophagy - animal and Senescence and Autophagy in Cancer. Affiliated tissues include brain, eye and lung.

Disease Ontology : ¹² A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death.

CDC : ³ Acanthamoeba is a microscopic, free-living ameba, or amoeba* (single-celled living organism), that can cause rare**, but severe infections of the eye, skin, and central nervous system. The ameba is found worldwide in the environment in water and soil. The ameba can be spread to the eyes through contact lens use, cuts, or skin wounds or by being inhaled into the lungs. Most people will be exposed to Acanthamoeba during their lifetime, but very few will become sick from this exposure. The three diseases caused by Acanthamoeba are: Acanthamoeba keratitis – An infection of the eye that typically occurs in healthy persons and can result in permanent visual impairment or blindness. Granulomatous Amebic Encephalitis (GAE) – A serious infection of the brain and spinal cord that typically occurs in persons with a compromised immune system. Disseminated infection – A widespread infection that can affect the skin, sinuses, lungs, and other organs independently or in combination. It is also more common in persons with a compromised immune system.

Wikipedia : ⁷⁴ Granulomatous amoebic encephalitis (GAE) is a rare, usually fatal, subacute-to-chronic central nervous... more...

Search Clinical Trials , NIH Clinical Center for Granulomatous Amebic Encephalitis

Search GEO for disease gene expression data for Granulomatous Amebic Encephalitis.