Familial multiple sclerosis in a pediatric patient: case report

*Correspondence: [e-mail].

Abstract

Case Presentation: Female patient, 11 years old, with paresthesia in fingers. Maternal aunt with multiple scle-rosis (MS). A neuraxial magnetic resonance imaging (MRI) showed demyelinating lesions in different evolutionary stages with signs of activity in the bilateral central parietal white matter. After 2 months, she had a new episode of paresthesia in the left C7 region. New MRI showed focal lesions in the peripheral and central portions, mainly at C1, C7, T1, T10; demyelinating plaques, in addition to lesions in the subtentorial white matter and signs of an active inflammatory process in the left periventricular region. Cerebrospinal fluid (CSF) tests results showed: positive oligoclonal bands, negative anti-MOG and negative anti-AQP4. Pediatric MS was confirmed, both by the presence of more than 2 non-encephalopathic clinical events of presumed inflammatory origin, with relapses more than 30 days apart, MRI findings consistent with McDonald's 2010 revised criteria for spread in space with an exam showing at least one new lesion. Treatment with methylprednisolone was performed and fingolimoid was prescribed.

Discussion: Multiple sclerosis is a disease of young adults. Pediatric MS is when the disease starts before the age of 18 and its prevalence is 1.35-2.5 per 100,000 children. When compared to adults, children tend to have a more aggressive onset with a mul-tifocal presentation and a greater outbreak frequency. But also tend to have a slower pro-gression of the disease with less development of irreversible physical disabilities. It is caused by dysregulation of the peripheral immune system, leading to damage to the central nervous system. Its pathogenesis requires a genetically susceptible individual and an environmental trigger. The 2001 and 2005 McDonald criteria stated that a positive CSF associated with the development of new lesions on serial MRI can be diagnostic, even in a single clinical attack. However, CSF findings were not incorporated into the 2010 criteria for space spread, except for the diagnosis of primary progressive MS. Studies in adult suggest benefit from early institution of disease-modifying drugs. Available efficacy data for pediatric patients with MS are sparse.

Final Comments: This report emphasizes the importance of investigations on the role of genetic and environmental factors in the pathogenesis and inheritance of MS, in addition to the alert for early investigation and diagnosis, especially in the presence of family history.

Publication History

Article published online:
12 May 2025