Pediatric multiple sclerosis: challenges in diagnosis and pharmacologic therapeutics

*Correspondence: [e-mail].

Abstract

Case Presentation: AL, 9 years old, female, black, from RJ, hypothesis of stroke in childhood manifested by acute left faciobrachiocrural hemiparesis with spontaneous remission in 05/2014. The clinical evolution, brain and neuroaxis MRI led to the differential diagnosis of Multiple Sclerosis in its relapsing-remitting form due to the appearance of new lesions on MRI in 05/2016, according to MC Donald's criteria of dissemination in time and space, EDSS=1.5. Treatment with Interferon β, first-line medication in childhood, was started until 07/2017. Through a new MRI, therapeutic failure was characterized, opting for Glatiramer Acetate until 06/2018. After menarche, optic neuritis was diagnosed (EDSS 3) and MRI with increased lesion burden, lead to indication of Natalizumab. However, it was not feasible by the Brazilian guideline for MS treatment at the time, due to the age range. Fingolimod also did not meet the guideline criteria, but it was possible only by donations. Since then, adequate cognitive and motor development was achieved with EDSS=1.5. In 2019, Natalizumab was released in the new Brazilian MS guideline treatment.

Discussion: The early diagnosis and the knowledge of the different clinical presentations in children are ways to optimize differential diagnosis and clinical management in order to improve the quality of life of the future adult. To this end, access to MRI favors this study is not always feasible in the Brazilian heath public system services. Since repeated exposure to gadolinium may generate future burdens, one should consider replacing it with Evoked Potentials for follow-up. Finally, the creation of reference centers to assist the pediatric population may favor the systematization of scientific information and the development of protocols aimed at more assertive assistance based on clinical experience, contributing to multicenter research.

Final Comments: For pediatric MS, the need for early and scientific broad differential diagnosis and precise nosological definition is essential, even if it takes time. Access to tests such as MRI under sedation and follow-up in outpatient clinics specialized in MS are necessary, although costly and scarce. In addition, the pediatric therapeutic options are restricted by the Brazilian MS guideline due to the lack of scientific validation that proves the effectiveness of drugs and the absence of side effects in this population.

 

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Publication History

Article published online:
12 May 2025