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

Eur J Paediatr Neurol. 2020 Sep;28:228-236. doi: 10.1016/j.ejpn.2020.07.009. Epub 2020 Aug 11.

PMID: 32855042

Kürşad Aydın, Cengiz Havali, Ayşe Kartal, Ayşe Serdaroğlu, Şenay Haspolat

Summary: The aim of this study is to highlight common magnetic resonance imaging (MRI) features seen in early CLN2 disease and raise disease awareness among clinicians. Any of the mentioned features on MRI in this article should raise clinical suspicion to test for CLN2 disease.

Abstract

Objective: Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, paediatric-onset, neurodegenerative disorder characterised by language delay, seizures, and loss of motor function in the early stages. It progresses rapidly and eventually leads to the death. The aim of this study is to highlight common magnetic resonance imaging (MRI) features seen in early CLN2 disease and raise disease awareness among clinicians in order to facilitate early diagnosis and treatment of patients with disease-modifying enzyme replacement therapy.

Methods: MRI scans were obtained from 12 Turkish children with CLN2 disease at the time of symptom onset or diagnosis, as well as at various points throughout disease progression. Patient details including age at onset of symptoms, age at diagnosis and clinical presentation were collected. MRIs were analysed to identify common features in patients with CLN2 disease.

Results: The median diagnostic delay in this cohort was 2 years, indicating the need for increased disease awareness among clinicians. Key MRI features suggestive of CLN2 disease that were identified included cerebellar atrophy in 11 patients, linear hyperintensity of central white matter in 10 patients, cerebral atrophy in 8 patients and thinning of the corpus callosum in 6 patients. Thalamic hypointensity was seen in 1 patient and may also indicate CLN2 disease.

Conclusion: It is important to consider the presenting symptoms alongside clinical test results in order to support early diagnosis of CLN2 disease. Clinical suspicion of CLN2 disease combined with the detection of any of the above-mentioned features on MRI should encourage healthcare professionals to test for CLN2 disease.