MNGIE syndrome

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Classification according to ICD-10
G71.3 Mitochondrial myopathy, not elsewhere classified
ICD-10 online (WHO version 2019)

The MNGIE syndrome , acronym for M itochondriale N EUR G astro I ntestinale E nzephalopathie , is a very rare congenital form of mitochondrial DNA Depletionssyndroms the main features progressive disorder of the digestive tract , and peripheral neuropathy .

Synonyms are: encephalomyopathy, mitochondrial neurogastrointestinal; (Outdated names: POLIP syndrome; polyneuropathy - ophthalmoplegia - leukoencephalopathy - intestinal pseudo-obstruction )

The first description comes from 1987 by the Göttingen neuropathologists A. Bardosi, W. Creutzfeldt and colleagues.

distribution

The frequency is given as 1 - 9 in 1,000,000, but less than 100 affected people have been reported in the literature to date. Inheritance is autosomal - recessive .

root cause

The disease are mutations in TYMP - gene on chromosome 22 locus q13.33 basis that for thymidine phosphorylase in the cytosol coded. The loss of enzyme activity increases the amount of thymidine and deoxyuridine in the body fluids.

Clinical manifestations

Clinical criteria are:

In addition, hearing loss , pigment retinopathy and cerebellar symptoms can occur.

diagnosis

For diagnosis, the activity of thymidine phosphorylase can be measured in leukocytes. Muscle biopsy are ragged-red-Fibers , by imaging a leukoencephalopathy detectable.

Differential diagnosis

The following are to be distinguished: MELAS syndrome , MERRF syndrome or diseases with a disorder in the POLG gene.

therapy

Treatment is largely symptomatic.

Prospect of healing

The prognosis is considered unfavorable because of the necessary parenteral nutrition and the tendency towards infection.

literature

  • J. Weiß: The MNGIE syndrome. In: Journal of Gastroenterology. Volume 51, Number 7, July 2013, p. 610, PMID 24006514 .

Individual evidence

  1. ↑ a b c d e f g Encephalomyopathy, mitochondrial neurogastrointestinal. In: Orphanet (Rare Disease Database).
  2. ↑ C. Garone, S. Tadesse, M. Hirano: Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. In: Brain: a journal of neurology. Volume 134, Pt 11 November 2011, pp. 3326-3332, doi: 10.1093 / brain / awr245 , PMID 21933806 , PMC 3212717 (free full text).
  3. ↑ A. Bardosi, W. Creutzfeldt, S. DiMauro, K. Felgenhauer, RL Friede, HH Goebel, A. Kohlschütter, G. Mayer, G. Rahlf, S. Servidei: Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome ) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. In: Acta neuropathologica. Volume 74, Number 3, 1987, pp. 248-258, PMID 2823522 .
  4. ↑ Mitochondrial DNA depletion syndrome 1 (MNGIE type).  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ POLYMERASE, DNA, GAMMA; POLG.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ B. Röeben, J. Marquetand, B. Bender, H. Billing, TB Haack, I. Sanchez-Albisua, L. Schöls, HJ Blom, M. Synofzik: Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine , but not CSF levels and neurological function. In: Orphanet Journal of Rare Diseases. Volume 12, number 1, 08 2017, p. 135, doi: 10.1186 / s13023-017-0687-0 , PMID 28764801 , PMC 5540565 (free full text).

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