Dados do Trabalho

Título

FAMILIAL MULTIPLE SCLEROSIS IN A PEDIATRIC PATIENT: CASE REPORT

Apresentação do caso

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.

Discussão

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 at-tack. 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.

Comentários finais

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.

Referências (se houver)

1, Jeong A, Oleske DM, Holman J. Epidemiology of Pediatric-Onset Multiple Sclerosis: A Systematic Review of the Literature. J Child Neurol. 2019;34(12):705.
2. Willer CJ, Dyment DA, Risch NJ, Sadovnick AD, Ebers GC, Canadian Collaborative Study Group. Twin concordance and sibling recurrence rates in multiple sclerosis.
Proc Natl Acad Sci U S A. 2003;100(22):12877.
3. Krupp LB, et al. International Pediatric Multiple Sclerosis Study Group criteria for pediat-ric multiple sclerosis and immune-mediated central nervous system demyelinating disor-ders: revisions to the 2007 definitions. Mult Scler. 2013 Sep;19(10):1261-7.
4. Chitnis T, et al. Consensus statement: evaluation of new and existing therapeutics for pediatric multiple sclerosis. Mult Scler. 2012 Jan;18(1):116-27.
5. Beres SJ, Graves J, Waubant E. Rituximab use in pediatric central demyelinating dis-ease. Pediatr Neurol. 2014;51(1):114.
6. Salzer J, Lycke J, Wickström R, Naver H, Piehl F, Svenningsson A Rituximab in paediatric onset multiple sclerosis: a case series. J Neurol. 2016;263(2):322.

Palavras Chave

Multiple Sclerosis, Neuropediatrician, Rare deseases

Fonte de Fomento (se houver)

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Declaração de conflito de interesses de TODOS os autores

Não há

Área

Neuroimunologia, esclerose múltipla e outras doenças desmielinizantes