Abstract A 28-month-old infant presented with fever, vomiting and encephalopathy. Magnetic resonance imaging findings and family history confirmed a diagnosis of recurrent familial acute necrotizing encephalopathy (ANE1). [ncbi.nlm.nih.gov]

CASE PRESENTATION A 28-month-old female child presented with 5 days of fever, lethargy and coryzal symptoms, initially diagnosed as a viral upper respiratory tract infection by her general practitioner. [journals.lww.com]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Individual disorders are analyzed by age of onset, with attention given to disorders present in utero, in the newborn, in the infant, and the adolescent, making this a practical and comprehensive guide for any healthcare professional. [books.google.de]

• Bilious Vomiting

  After 72 hours, she developed persistent non-bilious vomiting and presented to a district general hospital. [journals.lww.com]

• Alteration of Consciousness

  It is characterized by the features of acute encephalopathy such as seizure, alteration of consciousness, and symmetric involvement of the bilateral thalamus on neuroimaging tests. [semanticscholar.org]

  The disease progresses rapidly with symptoms that include cough, vomiting and diarrhea in combination with neurologic dysfunction, alteration of consciousness and seizures. [news-medical.net]

• Foot Drop

  Her mother had been noted to have post-viral encephalitis and polyneuritis at the age of 19 with a residual foot-drop and was also found to be heterozygous for the same mutation. [journals.lww.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Outcome of acute necrotizing encephalopathy in relation to treatment with corticosteroids and gammaglobulin. Brain Dev. 2009 ; 31 ( 3 ): 221 – 7. Kirton, A, Busche, K, Ross, C, Wirrell, E. [cambridge.org]

Treatment with methylprednisolone pulse treatment facilitated recovery without severe sequela. Therefore; when acute viral encephalopathy is actually suspected, steroid pulse therapy should be considered during the treatment. [omicsonline.org]

Treatment and prognosis ANEC carries a very poor prognosis; the mortality rate is near 70%. Treatment is mainly supportive, as the precise etiology remains unknown. [radiopaedia.org]

Treatment and prognosis ANEC carries a very poor prognosis; the mortality rate is near 70%. Treatment is mainly supportive, as the precise etiology remains unknown. [radiopaedia.org]

Early treatment with steroids is reported to result in better prognosis. [3] The exact pathological basis is still not well understood. [neurologyindia.com]

Identification of the molecular basis of disease in an affected individual may confirm diagnosis, predict prognosis, and encourage testing of additional family members to inform reproductive risk. [invitae.com]

Lim, Cancer genetics ( PubMed ) GeneRIF : RANBP2-ALK fusion combined with monosomy 7 may be related to a unique clonal hematologic disorder of childhood and adolescence, characterized by myelomonocytic leukemia and a poor prognosis [case report/ review [papers.genomics.lbl.gov]

A viral etiology has been proposed in some cases; viral prodrome hence may precede the neurological deficits. The etiology and the pathogenesis of ANEC remain partially clear. [radiopaedia.org]

A viral etiology has been proposed in some cases; viral prodrome hence may precede the neurological deficits. Pathology The aetiology and the pathogenesis of ANEC remain partially clear. [dailyrounds.org]

Investigations for an infective etiology (viral and bacterial) were negative. CSF analysis showed no cellular response; however, the CSF protein was120 mg/dl. [neurologyindia.com]

The role of reoviruses as etiologic agents for symptomatic human diseases remains controversial. [wwwnc.cdc.gov]

[…] necrotizing hemorrhagic encephalopathy 2016 2017 2018 2019 Billable/Specific Code specified NEC G04.39 ICD-10-CM Diagnosis Code G04.39 Other acute necrotizing hemorrhagic encephalopathy 2016 2017 2018 2019 Billable/Specific Code Code Also underlying etiology [icd10data.com]

Summary Epidemiology It has been described in 11 members of one family. Clinical description Onset occurs during early childhood, typically a few days after a febrile illness. [orpha.net]

DNA-PKcs deficiency Terminal osseous dysplasia - pigmentary defects Synonym(s): - ADANE - Recurrent acute necrotizing encephalopathy Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

Epidemiology ANEC is a rare condition with less than 150 cases reported in literature. From the first case described in 1995, many cases have been reported both in Asia as well as western countries. [dailyrounds.org]

Relevant External Links for RANBP2 Genetic Association Database (GAD) RANBP2 Human Genome Epidemiology (HuGE) Navigator RANBP2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: RANBP2 No data available for Genatlas for RANBP2 Gene Infection-triggered [genecards.org]

Its epidemiology is unknown largely due to under-recognition. Recurrent ANE has recently been associated with a newly discovered autosomal dominant mutation RAN-binding protein 2 now termed ANE1. [link.springer.com]

A cytokine storm may be pivotal in the pathophysiology of ANE. 11 Interleukin-6 (elevated in both serum and CSF) and TNF alpha are pro-inflammatory cytokines that are capable of inducing apoptosis and endothelial injury resulting in the breakdown of the [journals.lww.com]

"In order to prevent or lessen the neurological damage caused by ANE, it's very important to determine how missense mutations in RANBP2 predispose certain people to the disease." [news-medical.net]

Medizin – Medicine is the science and practice of the diagnosis, treatment, and prevention of disease. [wikivisually.com]

Prevention of primary manifestations: Routine vaccinations and yearly influenza vaccinations are recommended, although there are theoretic concerns for live influenza and cellular pertussis preparations. [ncbi.nlm.nih.gov]