Baek Chooyoung, de la Rosa Lucas Rincon, Aliouat Ilyes, Guichard Loup, Pappa Eva, Le Guennec Loic, Nichelli Lucia, Sangare Aude, Habert Marie-Odile, Bayen Eleonore, Del Cul Antoine, Mokhtari Karima, Cohen-Aubart Fleur, Haroche Julien, Héritier Sébastien, Donadieu Jean, Hoang-Xuan Khê, Alentorn Agusti, Idbaih Ahmed
Sorbonne Université, AP-HP, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, DMU Neurosciences, Service de Neuro-Oncologie-Institut de Neurologie, Paris, France.
Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.
Eur J Neurol. 2025 Jun;32(6):e70249. doi: 10.1111/ene.70249.
Neurodegenerative Langerhans Cell Histiocytosis (ND-LCH) is a severe central nervous system involvement complicating LCH. ND-LCH is characterized by a cerebellar ataxia, pyramidal signs, pseudobulbar palsy, cognitive impairment, and behavioral disturbances. Cerebellar atrophy, the most common MRI finding, has been widely described in the literature. However, the natural history of volumetric changes in the cerebellum has never been examined. In this study, we aim to perform a quantitative analysis of cerebellar atrophy in ND-LCH patients compared to a control cohort.
MRI of patients with ND-LCH was compared to those of controls. An automated cerebellum analysis was performed using the Volbrain software (CERES) and a linear regression analysis was used to score the severity of cerebellar atrophy over time.
We retrospectively analyzed the follow-up MRI of 16 adult patients with ND-LCH compared to those of 22 control patients. We examined an average of four MRIs per patient over a median follow-up period of six years. All patients with ND-LCH exhibit global and cortical cerebellar atrophy over time. The average atrophy rate is -1.86 cm/year (range - 5.90 to 0.34) and is heterogeneous between patients. All cerebellar lobules are affected by atrophy.
Longitudinal quantitative MRI analysis of the cerebellum in ND-LCH: (i) is feasible, (ii) confirms significant global and cortical cerebellar atrophy in patients with ND-LCH over time, (iii) estimates the rate of cerebellar atrophy, and (iv) could be useful as a therapeutic endpoint in a clinically slow-progressing disease. Further studies are needed to validate our findings.
神经退行性朗格汉斯细胞组织细胞增多症（ND-LCH）是一种使朗格汉斯细胞组织细胞增多症（LCH）复杂化的严重中枢神经系统受累疾病。ND-LCH的特征为小脑共济失调、锥体束征、假性球麻痹、认知障碍和行为障碍。小脑萎缩是最常见的MRI表现，在文献中已有广泛描述。然而，小脑体积变化的自然史从未被研究过。在本研究中，我们旨在对ND-LCH患者的小脑萎缩进行定量分析，并与对照组进行比较。
将ND-LCH患者的MRI与对照组的MRI进行比较。使用Volbrain软件（CERES）进行自动小脑分析，并使用线性回归分析对小脑萎缩随时间的严重程度进行评分。
我们回顾性分析了16例成年ND-LCH患者的随访MRI，并与22例对照患者的MRI进行比较。在平均六年的中位随访期内，我们平均每位患者检查了四次MRI。所有ND-LCH患者随着时间的推移均出现全小脑和小脑皮质萎缩。平均萎缩率为-1.86 cm/年（范围为-5.90至0.34），且患者之间存在异质性。所有小脑小叶均受萎缩影响。
对ND-LCH患者的小脑进行纵向定量MRI分析：（i）是可行的，（ii）证实了ND-LCH患者随着时间的推移存在显著的全小脑和小脑皮质萎缩，（iii）估计了小脑萎缩率，并且（iv）在临床上进展缓慢的疾病中可用作治疗终点。需要进一步研究来验证我们的发现。
