Metilmalonik asidemiye bağlı optik sinir tutulumu: Bir olgu sunumu
Metilmalonik asidemi (sıklıkla) nörolojik bulgularla seyreden organik asidemilerden biridir. Literatürde (nadir bir) komplikasyon olarak optik atrofi gelişebileceği bildirilmektedir. Sekiz yaşında kız hasta büyüme geriliği, kusma ve kilo kaybı yakınmalanyla getirildi. Ağırlık ve boyu (
Methymalonic acidemia with optic nerve discase: A case report
Methyl malonic acidemia is a rare form of organic acidemias (that frequently observed with the neurological findings). It was noted that optic atrophy could be developed as a rare complication. An 8-year-old girl presented to our hospital with growth retardation, weight loss and vomiting. Her weight and length were (
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