Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria

Kartal A., Aydin K.

NEURORADIOLOGY JOURNAL, cilt.29, sa.5, ss.310-313, 2016 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 5
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1177/1971400916665371
  • Dergi Adı: NEURORADIOLOGY JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.310-313
  • Anahtar Kelimeler: Aspartylglucosaminuria, lysosomal storage disorder, brain MRI, FINLAND
  • Gazi Üniversitesi Adresli: Evet

Özet

Aspartylglucosaminuria is a rare lysosomal storage disorder that occurs as a result of a deficiency of the aspartylglucosaminidase enzyme. Because the disease is commonly referred to as the Finnish disease heritage, it is underdiagnosed outside of Finland. To date, only three Turkish patients are described in the literature. Here we describe the clinical and brain magnetic resonance imaging findings in two Turkish cousins with aspartylglucosaminuria, which can raise the suspicion of this rare disease in clinical practice.