Early diagnosis and monitoring of neurodegenerative langerhans cell histiocytosis

Autor: Renzo Guerrini, Maurizio Aricò, Elena Sieni, Carmen Barba, Gianpiero Di Giacomo, Laura Grisotto, Katiuscia Romano, M. Mortilla, Sara Savelli, Claudio Fonda, Annibale Biggeri
Jazyk: angličtina
Rok vydání: 2015
Předmět:
In vivo magnetic resonance spectroscopy
Male
Genetics and Molecular Biology (all)
Pathology
lcsh:Medicine
Biochemistry
Agricultural and Biological Sciences (all)
Medicine (all)
Langerhans cell histiocytosis
Risk Factors
lcsh:Science
Child
education.field_of_study
Multidisciplinary
medicine.diagnostic_test
Electroencephalography
Neurodegenerative Diseases
Magnetic Resonance Imaging
Histiocytosis
Area Under Curve
Child
Preschool
Evoked Potentials
Auditory
Female
Radiology
Research Article
Adult
medicine.medical_specialty
Adolescent
Population
Neurological examination
Sensitivity and Specificity
Young Adult
Evoked Potentials
Somatosensory
medicine
Humans
Biochemistry
Genetics and Molecular Biology (all)
education
business.industry
lcsh:R
Infant
Magnetic resonance imaging
medicine.disease
Histiocytosis
Langerhans-Cell
Early Diagnosis
ROC Curve
Somatosensory evoked potential
Diabetes insipidus
lcsh:Q
business
Follow-Up Studies
Zdroj: PLoS ONE
PLoS ONE, Vol 10, Iss 7, p e0131635 (2015)
Popis: Background Neurodegenerative Langerhans Cell Histiocytosis (ND-LCH) is a rare, unpredictable consequence that may devastate the quality of life of patients cured from LCH. We prospectively applied a multidisciplinary diagnostic work-up to early identify and follow-up patients with ND-LCH, with the ultimate goal of better determining the appropriate time for starting therapy. Methods We studied 27 children and young adults with either ND-LCH verified by structural magnetic resonance imaging (MRI) (group 1) or specific risk factors for (diabetes insipidus, craniofacial bone lesions), but no evidence of, neurodegenerative MRI changes (group 2). All patients underwent clinical, neurophysiological and MRI studies. Results Seventeen patients had MRI alterations typical for ND-LCH. Nine showed neurological impairment but only three were symptomatic; 11 had abnormal somatosensory evoked potentials (SEPs), and five had abnormal brainstem auditory evoked potentials (BAEPs). MR spectroscopy (MRS) showed reduced cerebellar NAA/Cr ratio in nine patients. SEPs showed sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) for predicting ND-LCH of 70.6% (95%CI, 44.0%-89.7%), 100% (69.2%-100%), 100% (73.5%-100%), and 66.7% (38.4%-88.2%), respectively. Repeated investigations in group 1 revealed increasingly abnormal EP parameters, or neurological examination, or both, in nine of fifteen patients while MRI remained unchanged in all but one patient. Conclusion A targeted MRI study should be performed in all patients with risk factors for ND-LCH for early identification of demyelination. The combined use of SEPs and careful neurological evaluation may represent a valuable, low-cost, well-tolerated and easily available methodology to monitor patients from pre-symptomatic to symptomatic stages. We suggest a multidisciplinary protocol including clinical, MRS, and neurophysiological investigations to identify a population target for future therapeutic trials.
Databáze: OpenAIRE
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