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. We obtained MRI scans from 12 Turkish children with CLN2 disease, at symptom onset or time of diagnosis, and at various times during 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 present in patients with CLN2 disease. The median diagnostic delay in this cohort was 2 years, highlighting 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. 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 accompanied by the detection of any of the above-mentioned features on MRI should encourage healthcare professionals to test for CLN2 disease.

中文翻译：

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CLN2 疾病患者的 MRI：支持早期诊断的微妙特征

神经元蜡样脂褐质沉积症 2 型 (CLN2) 疾病是一种罕见的儿科发病神经退行性疾病，其早期阶段的特征是语言延迟、癫痫发作和运动功能丧失。它会迅速进展并最终导致患者过早死亡。我们的目标是突出早期 CLN2 疾病中常见的磁共振成像 (MRI) 特征，并提高临床医生的疾病意识，以促进疾病修饰酶替代疗法患者的早期诊断和治疗。我们获得了 12 名患有 CLN2 疾病的土耳其儿童在症状出现或诊断时以及疾病进展期间的不同时间的 MRI 扫描。收集了患者的详细信息，包括出现症状时的年龄、诊断时的年龄和临床表现。对 MRI 进行分析以识别 CLN2 疾病患者中存在的共同特征。该队列中的中位诊断延迟为 2 年，突出表明临床医生需要提高疾病意识。确定的提示 CLN2 疾病的关键 MRI 特征包括 11 名患者的小脑萎缩、10 名患者的中央白质线性高信号、8 名患者的脑萎缩和 6 名患者的胼胝体变薄。1 名患者出现丘脑低信号，也可能表明 CLN2 疾病。重要的是要考虑临床测试结果的同时出现的症状，以支持 CLN2 疾病的早期诊断。