Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS (Istituto di Ricerca e Cura a Carattere Scientifico), Rome, Italy.
Pediatric Neurology, 12 October University Hospital, Madrid, Spain.
Epilepsia. 2017 Aug;58(8):1380-1388. doi: 10.1111/epi.13820. Epub 2017 Jun 20.
This study aimed to identify early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease to enable early diagnosis, thus providing the key to early treatment, and optimized care and outcomes.
Retrospective clinical chart review of a series of patients diagnosed with CLN2 disease from 2005 to 2015 at a single center in Italy. Clinical, MRI, and EEG findings were reviewed.
A total of 14 patients were included. For the whole group, median (range) age at disease onset was 3.0 (2.0-3.8) years. Epilepsy was the most commonly reported presenting symptom (in 50% [seven of 14] of patients), occurring at the age of 3.2 (2.6-3.8) years. First seizure was myoclonic in 36% (five of 14) of patients, followed by generalized tonic-clonic in 29% (4 of 14), atonic in 22% (three of 14), and focal with motor signs in 14% (two of 14). All patients walked independently at the age of 12.0 (11.0-18.0) months, but delayed speech or regression of acquired verbal skills was present in 100% of patients at 3 years. EEGs revealed a photoparoxysmal response (PPR) on intermittent photic stimulation in 93% (13 of 14) of patients. PPR was present from the first EEG, which was performed at 3.6 (3.1-4.0) years, in 43% (six of 14) of patients; it was documented at low (1-3 Hz) stimulation frequencies in 69% (nine of 13) and took the form of a flash-per-flash response in 69% (nine of 13). First brain MRI at the age of 3.8 (3.0-5.1) years revealed cerebellar atrophy in 100% (14 of 14) of patients and alteration of the periventricular white matter signal in the posterior hemispheric region in 79% (11 of 14).
Early photosensitivity (typically PPR at low stimulation frequencies of 1-3 Hz) is a hallmark of CLN2 disease. This diagnosis should be considered in a child presenting with any type of seizure, and particularly if it is accompanied by delayed speech and/or ataxia or MRI abnormalities (posterior white matter signal alteration or cerebellar atrophy).
本研究旨在明确神经元蜡样脂褐质沉积症 2 型（CLN2）疾病的早期临床、磁共振成像（MRI）和脑电图（EEG）特征，以便进行早期诊断，从而为早期治疗提供关键，并优化护理和结局。
对 2005 年至 2015 年期间在意大利一家单中心被诊断为 CLN2 疾病的一系列患者进行回顾性临床病历回顾。回顾了临床、MRI 和 EEG 发现。
共纳入 14 例患者。对于整个组，疾病发病年龄的中位数（范围）为 3.0（2.0-3.8）岁。癫痫是最常见的首发症状（14 例患者中的 50%[7 例]），发病年龄为 3.2（2.6-3.8）岁。首次发作时，36%（14 例中的 5 例）为肌阵挛性，29%（14 例中的 4 例）为全面强直阵挛性，22%（14 例中的 3 例）为失张力性，14%（14 例中的 2 例）为局灶性伴运动体征。所有患者在 12.0（11.0-18.0）个月时能够独立行走，但在 3 岁时 100%（14 例中的 14 例）的患者存在语言延迟或已获得的语言技能退化。脑电图间歇性光刺激时发现光惊厥反应（PPR），在 93%（14 例中的 13 例）的患者中存在。PPR 存在于首次脑电图中，首次脑电图在 3.6（3.1-4.0）岁时进行，在 43%（14 例中的 6 例）的患者中存在；在 69%（13 例中的 9 例）中以低（1-3Hz）刺激频率记录到，在 69%（13 例中的 9 例）中以闪光-闪光反应的形式存在。在 3.8（3.0-5.1）岁时进行的首次脑 MRI 显示 100%（14 例中的 14 例）的患者存在小脑萎缩和后部半球区域的脑室周围白质信号改变。
早期光敏性（通常为 1-3Hz 的低频刺激下的 PPR）是 CLN2 疾病的一个标志。如果患儿出现任何类型的癫痫发作，特别是伴有语言延迟和/或共济失调或 MRI 异常（后部白质信号改变或小脑萎缩），应考虑该诊断。
