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Atypical clinical and neuroradiological presentation in a patient with mitochondrial neurogastrointestinal encephalomyopathy with anterior leukoencephalopathy

Yıl 2010, Cilt: 15 Sayı: 3, 103 - 107, 17.01.2013

Öz

Abstract. The clinical presentation of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is somewhat varied. Here we report  a 14 year old patient who had been followed for iron and zinc deficiency anemia since 1 year old and who did not respond to several regimes of  iron and zinc therapy. He was diagnosed with MNGIE when he had developed opthalmoplegia at 14 years of age. In contrast with a diffuse leukoencephalymyopathy generally seen in MNGIE patients, cranial MRI showed that the leukoencephalopathy was localized mainly to the frontal lobes of the patient at his first admission.

 

Key words:  MNGIE, anemia, leukoencephalopathy

Kaynakça

  • Hirano M, Martí R, Casali C, et al. Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology 2006; 67:1458-1460.
  • Gamez J, Ferreiro C, Accarino ML, et al. Phenotypic variability in a Spanish family with MNGIE. Neurology 2002; 59: 455-457.
  • Schüpbach WM, Vadday KM, Schaller A, et al. Mitochondrial neurogastrointestinal encephalomyopathy. European Journal of Human encephalomyopathy in three siblings. Clinical, genetic and neuroradiological features. J Neurol 2007; 254: 146-153.
  • Millar WS, Lignelli A, Hirano M. MRI of five patients with mitochondrial neurogastrointestinal encephalomyopathy. Am J Roentgenol 2004; 182: 1537-1541.
  • Asai K, Nakanishi K, Isobe I, et al. Neurotrophic action of gliostatin on cortical neurons. Identity of gliostatin and platelet-derived endothelial cell growth factor. J B iol Chem 1992; 267: 20311- 20316.
  • Nishino I, Spinazzola A, Hirano M. MNGIE: from nuclear DNA to mitochondrial DNA. Neuromuscular Disorders 2001; 11: 7-10.
  • Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal
Yıl 2010, Cilt: 15 Sayı: 3, 103 - 107, 17.01.2013

Öz

Kaynakça

  • Hirano M, Martí R, Casali C, et al. Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology 2006; 67:1458-1460.
  • Gamez J, Ferreiro C, Accarino ML, et al. Phenotypic variability in a Spanish family with MNGIE. Neurology 2002; 59: 455-457.
  • Schüpbach WM, Vadday KM, Schaller A, et al. Mitochondrial neurogastrointestinal encephalomyopathy. European Journal of Human encephalomyopathy in three siblings. Clinical, genetic and neuroradiological features. J Neurol 2007; 254: 146-153.
  • Millar WS, Lignelli A, Hirano M. MRI of five patients with mitochondrial neurogastrointestinal encephalomyopathy. Am J Roentgenol 2004; 182: 1537-1541.
  • Asai K, Nakanishi K, Isobe I, et al. Neurotrophic action of gliostatin on cortical neurons. Identity of gliostatin and platelet-derived endothelial cell growth factor. J B iol Chem 1992; 267: 20311- 20316.
  • Nishino I, Spinazzola A, Hirano M. MNGIE: from nuclear DNA to mitochondrial DNA. Neuromuscular Disorders 2001; 11: 7-10.
  • Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal
Toplam 7 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Case Report
Yazarlar

Serap Teber Bu kişi benim

Arzu Yılmaz Bu kişi benim

Mehmet Akif Teber Bu kişi benim

Ömer Bektaş Bu kişi benim

Erhan Aksoy Bu kişi benim

Gülhis Deda Bu kişi benim

Yayımlanma Tarihi 17 Ocak 2013
Yayımlandığı Sayı Yıl 2010 Cilt: 15 Sayı: 3

Kaynak Göster

APA Teber, S., Yılmaz, A., Teber, M. A., Bektaş, Ö., vd. (2013). Atypical clinical and neuroradiological presentation in a patient with mitochondrial neurogastrointestinal encephalomyopathy with anterior leukoencephalopathy. EASTERN JOURNAL OF MEDICINE, 15(3), 103-107.
AMA Teber S, Yılmaz A, Teber MA, Bektaş Ö, Aksoy E, Deda G. Atypical clinical and neuroradiological presentation in a patient with mitochondrial neurogastrointestinal encephalomyopathy with anterior leukoencephalopathy. EASTERN JOURNAL OF MEDICINE. Mart 2013;15(3):103-107.
Chicago Teber, Serap, Arzu Yılmaz, Mehmet Akif Teber, Ömer Bektaş, Erhan Aksoy, ve Gülhis Deda. “Atypical Clinical and Neuroradiological Presentation in a Patient With Mitochondrial Neurogastrointestinal Encephalomyopathy With Anterior Leukoencephalopathy”. EASTERN JOURNAL OF MEDICINE 15, sy. 3 (Mart 2013): 103-7.
EndNote Teber S, Yılmaz A, Teber MA, Bektaş Ö, Aksoy E, Deda G (01 Mart 2013) Atypical clinical and neuroradiological presentation in a patient with mitochondrial neurogastrointestinal encephalomyopathy with anterior leukoencephalopathy. EASTERN JOURNAL OF MEDICINE 15 3 103–107.
IEEE S. Teber, A. Yılmaz, M. A. Teber, Ö. Bektaş, E. Aksoy, ve G. Deda, “Atypical clinical and neuroradiological presentation in a patient with mitochondrial neurogastrointestinal encephalomyopathy with anterior leukoencephalopathy”, EASTERN JOURNAL OF MEDICINE, c. 15, sy. 3, ss. 103–107, 2013.
ISNAD Teber, Serap vd. “Atypical Clinical and Neuroradiological Presentation in a Patient With Mitochondrial Neurogastrointestinal Encephalomyopathy With Anterior Leukoencephalopathy”. EASTERN JOURNAL OF MEDICINE 15/3 (Mart 2013), 103-107.
JAMA Teber S, Yılmaz A, Teber MA, Bektaş Ö, Aksoy E, Deda G. Atypical clinical and neuroradiological presentation in a patient with mitochondrial neurogastrointestinal encephalomyopathy with anterior leukoencephalopathy. EASTERN JOURNAL OF MEDICINE. 2013;15:103–107.
MLA Teber, Serap vd. “Atypical Clinical and Neuroradiological Presentation in a Patient With Mitochondrial Neurogastrointestinal Encephalomyopathy With Anterior Leukoencephalopathy”. EASTERN JOURNAL OF MEDICINE, c. 15, sy. 3, 2013, ss. 103-7.
Vancouver Teber S, Yılmaz A, Teber MA, Bektaş Ö, Aksoy E, Deda G. Atypical clinical and neuroradiological presentation in a patient with mitochondrial neurogastrointestinal encephalomyopathy with anterior leukoencephalopathy. EASTERN JOURNAL OF MEDICINE. 2013;15(3):103-7.