التفاصيل البيبلوغرافية
| العنوان: |
Long term follow-up of neurodegenerative Langerhans cell histiocytosis: report on 63 patients from the Italian registry |
| المؤلفون: |
TRAMBUSTI, IRENE |
| المساهمون: |
Peroni, Diego, Sieni, Elena |
| المصدر: |
http://etd.adm.unipi.it/theses/available/etd-03292024-190746/. |
| بيانات النشر: |
Pisa University |
| سنة النشر: |
2024 |
| المجموعة: |
Università di Pisa: ETD (Electronic Theses and Dissertations) |
| مصطلحات موضوعية: |
MEDICINA CLINICA E SPERIMENTALE |
| الوصف: |
Neurodegenerative involvement in Langerhans cell histiocytosis (ND-LCH) is a rare but potentially devastating complication that can progress to disabling neurological manifestations. Despite advances in scientific research, there are still many open questions. Effective therapy is lacking: various treatments have been proposed achieving best results when initiated early. However, a standardized diagnostic approach to early identify patients in need of treatment is still a matter of debate. Lastly, only small cohorts of patients with short follow-up are reported so far, hampering knowledge about its natural history. Therefore, the aim of this study is to describe the long term follow-up of ND-LCH through the analysis of a large cohort of patients enrolled in the Italian LCH registry. In addition, we sought to identify predictors of ND-LCH progression to overt clinical manifestations. Out of the 637 patients enrolled in the Italian LCH Registry, 63 were referred for ND-LCH (10%) from 8 italian centres. Male to female ratio was 1.6. Median age at LCH diagnosis was 22 months. ND-LCH developed at a median of 59 months, with a delay of 2.9 years from the LCH diagnosis. Out of the 63 patients, 43 (68%) had multisystem disease, 13/43 with risk organ involvement. Diabetes insipidus and/or craniofacial bone lesions were reported in 51/63 (81%) patients; the remaining 12 patients were BRAF V600E mutated in 11/11 cases tested. Overall, 60% (38/63) patients were completely asymptomatic, 24% (15/63) had mild clinical manifestations including abnormal neurological examination and/or evoked potentials but without overt clinical picture, 16% (10/63) developed overt symptoms. The patients were followed-up for a median of 8.5 years (1– 22.5 years) from ND-LCH diagnosis with a multidisciplinary protocol including: brain MRI, evoked potential and neurological examination. Brain MRI worsened in 13/63 (21%) patients over a median of 1.5 years (1-12 years). Clinical ND-LCH developed after a median time of 2.5 years (range, 0-8 years) ... |
| نوع الوثيقة: |
text |
| وصف الملف: |
application/pdf |
| اللغة: |
Italian |
| Relation: |
http://etd.adm.unipi.it/theses/available/etd-03292024-190746/ |
| الاتاحة: |
http://etd.adm.unipi.it/theses/available/etd-03292024-190746/ |
| Rights: |
info:eu-repo/semantics/embargoedAccess ; Copyright information available at source archive |
| رقم الانضمام: |
edsbas.2C9C0848 |
| قاعدة البيانات: |
BASE |