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Metilmalonik Asidemiye Bağlı Optik Sinir Tutulumu: Bir Olgu Sunumu

Methylmalonic Acidemia with Optic Nerve Disease: A Case Report

Journal Name:

  • İnönü Üniversitesi Tıp Fakültesi Dergisi

Publication Year:

  • 2008

Key Words:

Keywords (Original Language):

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Abstract (2. Language): 
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 (<3 P) and neutropenia was determined. During follow-up, metabolic acidosis was diagnosed in this patient after detection of acidotic respiration, (midriatic pupils, loss of light reflex and optic atrophy )- an indicative of optic nerve disease. Cranial MRI revealed mild atrophy and symmetrical hyperintensity in peritrigonal and lentiform nuclei in T2-weighted images. The patient had lactic acidemia and methyl malonic acidemia was detected with urinary organic acid screening. It was emphasized that methymalonic acidemia patients required to follow-up for optic nerve involvement.
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Abstract (Original Language): 
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 yakınmalarıyla getirildi. Ağırlık ve boyu (<3 P) olan olguda nötropeni saptandı. İzlem sırasında (pupillerin midriatik olması, ışık refleksi kaybı ve optik atrofi şeklinde) optik sinir tutulumu bulgusu ile birlikte asidotik solunumu olan hastada metabolik asidoz gelişti. Beyin MRI’inde serebral atrofi, peritrigonal ve lentiform nukleuslarda T2 ağırlıklı kesitlerde hiperintens alanlar saptandı. Laktik asidemisi olan olgunun idrar organik asit incelemesinde metilmalonik asidemi saptandı. Metilmalonik asidemili olguların optik sinir tutulumu yönünden izlenmesi gerektiği vurgulandı.
FULL TEXT (PDF): 
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  • 4
283-285
  • Turkish

REFERENCES

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