MRI in CLN2 disease patients: Subtle features that support an early diagnosis


Aydin K., Havali C., Kartal A., SERDAROĞLU A. , HASPOLAT Ş.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.28, ss.228-236, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 28
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/j.ejpn.2020.07.009
  • Dergi Adı: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Sayfa Sayıları: ss.228-236

Özet

Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, paediatric-onset, neurodegenerative disorder characterised in its early stages by language delay, seizures and loss of motor function. It is rapidly progressive and ultimately results in the premature death of patients. We aim to highlight common magnetic resonance imaging (MRI) features seen in early CLN2 disease and increase disease awareness among clinicians in order to facilitate early diagnosis and treatment of patients with disease-modifying enzyme replacement therapy.