Diagnostic and therapeutic difficulty in demyelinating disease in pediatrics: a case report

*Correspondence: [e-mail].

Abstract

Case Presentation: In 2019 a 9-year-old male had paresthesia in right lower limb (RLL) and optic neuritis on the right eye. After one year, the patient presented intense headache in occipital region and vomiting for 24 hours. One month later he had perceptive focal epileptic seizures associated with the occipital headache. After 2 weeks he started with paresis and paresthesia of the RLL, associated with urinary retention and urinary incontinence. On neurological exam he presented horizontal nystagmus, gait ataxia, Romberg with falling to the left and lower limb incoordination. Global hyperreflexia, grade 4+ strength in the RLL, Mingazzini positive at right and normoesthesis. He was advised to take azatriopine, but for more than 2 years he only took prednisone and valproic acid, becoming corticosteroid dependent. In 2023, after a period of stability and attempt to wean off the corticosteroid, he presented new relapse with ataxia and tetraparesis, taking IV methilprednisolone for 5 days. He remained with paresis in RLL, mild dysmetria bilaterally and urinary incontinence. It was requested to start rituxumab, but it has not been started due to local difficulties in acquiring the high-cost medication. The CSF showed absence of oligoclonal bands, negative anti-AQP-4 and is waiting for Anti-MOG dosage. The 2020 brain MRI showed thickening in the right optic nerve and nonspecific lesions in the white substance, mainly in the subcortical region and cingulum gyrus, besides a lesion in the left cerebellar peduncle. The spine MRI of 2020 showed a T2 hyperintensity on C7 level, with extension of 1 vertebral body and gadolinium enhance, suggesting an active lesion. The most recent MRI shows brain, cervical and thoracic spine lesions and no T1 hypointense lesions are described.

Discussion: Due to enhanced diagnostic criteria and reliable antibody detection methods, the diagnosis of pediatric acquired demyelinating syndromes such as multiple sclerosis, MOGAD and AQP4-NMOSD has become more accurate. Unfortunately, in some regions the access to diagnosis and treatment are still barriers that limit these patients to have a better disease control. In the reported case, it was evident that there was a barrier to accessing the recommended therapy for children due to the limited availability of the medication.

Final Comments: Apart from the challenges posed by diagnosis, it is evident that the impact of limited access to drug therapy can significantly affect the prognosis of a child with demyelinating disease.

Publikationsverlauf

Artikel online veröffentlicht:
12. Mai 2025