[…] investigation into the possibility of MNGIE as a diagnosis.[2] Presentation of these symptoms and lack of disordered eating are not enough for a diagnosis. [en.wikipedia.org]

The second commonest presenting complaint, either in isolation or with sensory symptoms, is gait ataxia. Other forms of neurological presentation are unusual. [jnnp.bmj.com]

Abnormal collections of mitochondria in nerve and muscle as well as diffuse white matter disease were present. Cytochrome oxidase activity in muscle mitochondria was reduced. No mitochondrial DNA deletions were detected. [herbal-organic.com]

Anti-GQ1b antibodies are present in 90% of cases of Miller Fisher syndrome. [dovepress.com]

Patients carrying SPG7 mutations may not only present with CPEO but also with general myopathy, spasticity, ataxia, and dysphagia [Reyes et al. 2015]. [journals.sagepub.com]

• Asymptomatic

  In individuals with MNGIE, it is used to demonstrate asymptomatic leukoencephalopathy. [rarediseases.org]

  PRIMARY MUSCLE DISEASE Abnormal gastric emptying has been identified in patients with polymyositis or dermatomyositis,35 although in most patients it remains asymptomatic. [jnnp.bmj.com]

• Anemia

  Google Scholar | Crossref | Medline | ISI Shapira, A., Konopnicki, M., Hammad-Saied, M., Shabad, E. (2014) Pearson disease in an infant presenting with severe hypoplastic anemia, normal pancreatic function, and progressive liver failure. [journals.sagepub.com]

• Failure to Thrive

  […] to thrive, cardiomyopathy, dyspnea, restlessness, nystagmus, and aphonia. [dovepress.com]

  Invasive treatment In cases of cachexia or malnourishment or a failure to thrive, implementation of a percutaneous gastrostomy (PEG) or temporary insertion of a nasogastric tube can be inevitable. [journals.sagepub.com]

• Limb Weakness

  […] is associated with rapid correction of hyponatremia, is another condition resembling WE that is predominantly observed in alcoholics.63 CPM manifests with altered mental status, diplopia, limb weakness, dysphagia, and dysarthria. [dovepress.com]

When seizure activity must be ruled out, an EEG may be helpful in the initial workup of a patient with cirrhosis and altered mental status. EEG studies are not required to make a confident diagnosis of HE. [my.clevelandclinic.org]

Treatment Treatment The main objectives in the treatment of HE are fourfold: Provision of Supportive Care Standard supportive care is required for all hospitalized patients with HE. [my.clevelandclinic.org]

Standard Therapies Treatment The treatment of MNGIE is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Randomized controlled trials are needed to provide better guidelines for optimal thiamine treatment. [dovepress.com]

Cited by 33 articles Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment. Bax BE. Bax BE. J Transl Genet Genom. 2020 Mar 30;4:1-16. doi: 10.20517/jtgg.2020.08. J Transl Genet Genom. 2020. [pubmed.ncbi.nlm.nih.gov]

Noninvasive treatment Mainstays of treating GI abnormalities in MIDs include treatment of constipation, enteral nutrition, including tube feeding, tricyclic antidepressants for chronic irritable bowel syndrome-type pain, and treatment of vomiting and [journals.sagepub.com]

The prognosis for recovery is worse in alcoholics since they more likely to ultimately develop KS.7 This is thought to be due to cumulative damage from repeated thiamine-deficient events. [dovepress.com]

Assessment of the Need for Liver Transplantation The development of overt HE carries a poor prognosis, with a 1-year survival of 40%. [my.clevelandclinic.org]

Campbell and Russell were among the earliest to suggest the association in their case series of 21 patients with WE.5 They noted that only five of their patients abused alcohol which, at that time, was believed to be the likely etiology. [dovepress.com]

[…] positive actinomycete, and a provisional title of Tropheryma whippeliihas been given to it.84 More recently the organism has been successfully propagated in cell culture although that propagation depended on the presence of interleukin-4.85 Some of the epidemiological [jnnp.bmj.com]

Pathophysiology Pathophysiology While the precise molecular mechanisms that result in these morphological changes in the brain are yet to be identified, many factors have been elucidated, especially the role of ammonia, false neurotransmitters, astrocyte [my.clevelandclinic.org]

The natural history and pathophysiology of Wernicke’s encephalopathy and Kosakoff’s psychosis. Alcohol Alcohol. 2006;41(2):151–158. doi:10.1093/alcalc/agh249 56. Thomson AD, Cook CC, Touquet R, Henry JA. [dovepress.com]

Gastroesophageal reflux is common in MIDs and is pathophysiologically the opposite of achalasia. [journals.sagepub.com]

The current recommendation to prevent CTE is to reduce mild traumatic brain injuries and prevent additional injury after a concussion. [mayoclinic.org]

The liver clears almost all of the portal vein ammonia, converting it into glutamine and urea preventing entry into the systemic circulation. [my.clevelandclinic.org]

Affected individuals may need to be evaluated for swallowing difficulties to prevent aspiration. Nutritional supplementation may become necessary and may be provided through parenteral feedings or a gastrostomy tube. [rarediseases.org]

Refeeding syndrome: what it is, and how to prevent and treat it. BMJ. 2008;336(7659):1495–1498. doi:10.1136/bmj.a301 [dovepress.com]