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

TEBER S., Yilmaz A., Teber M. A., BEKTAŞ Ö., Aksoy E., Deda G.

Eastern Journal of Medicine, cilt.15, sa.3, ss.103-107, 2010 (Scopus) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 3
  • Basım Tarihi: 2010
  • Dergi Adı: Eastern Journal of Medicine
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.103-107
  • Anahtar Kelimeler: Anemia, Leukoencephalopathy, MNGIE
  • Ankara Üniversitesi Adresli: Evet

Özet

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.