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Título

Neuromyelitis optica spectrum disorder: a case report with the same onset in identical twins

RESUMO

Case Presentation: We describe the case of identical twins sisters with neuromyelitis optica spectrum disorder (NMOSD) with antiquaporine 4 antibodies (AQP4-Ab) positive, within a two years difference in the onset of symptoms between them. Sister 1:19-years-old, with back and neck pain, lower limb weakness and sensory loss and evoluted with urinary retention, persistent headache and ocular pain with transitory loss of vision in both eyes. Spinal magnetic resonance imaging (SMRI) revealed T2/FLAIR hyperintensity at the level of C3-C7 and L1-S1. Cerebrospinal fluid (CSF) examination showed a cellular reaction of 499 WBC/mm³, Protein level of 71 mg/dl, Glucose 40 mg/dl. The AQP4-Ab test was positive (1:80). Methylprednisolone intravenous pulse therapy (IVMP) associated with immunoglobulin worked to bring a clinical improvement of the symptoms, and the empiric maintenance regiment were made with Rituximab after the change of Azathioprine due it resulted in hepatotoxicity. Sister 2 20-year-old, that two months prior to her clinic visit also experienced back pain, paresthesia in upper limbs and ascendent hypoesthesia localized in the intermammillary region and evoluted with weakness of her legs, paraplegia and sphincter defect. On neurologic examination revealed meningeal irritation, and confirmed the sensory loss and paraplegia. SMRI evidenced T2 hypersignal at the level of T10 and longitudinally extended hypersignal in the cervical column. CSF revealed 8 WBC/mm, Protein level of 98 mg/dl, Glucose 54mg/dl. The AQP4-Ab test was also positive. IVMP associated with Plasma exchange was a success and the empiric maintenance regimen was made with Rituximab. Discussion: NMOSD is an group of demyelinating syndromes characterized by IgG autoantibodies directed against aquaporin-4 causing severe attacks in the optic nerve and/or spinal cord, leading to blindness, dysautonomic symptoms and paralysis. Most cases of NMOSD are sporadic, but some familial reports were reviewed, with a prevalence of 0,8%. So, in this case, we observe twin sisters whose onset of symptoms were similar and started within a two years difference between them and had to receive the second line attack therapy with rituximab due to the good response from her sister.
Final Comments: The treatment refractoriness of the sisters evidence that there may be a prognostic relationship influenced by genetics, especially in the improvement of symptoms after acute treatment.

Palavras Chave

Neuromyelitis Optica; AQP4-AB ; Twins ; NMOSD; Familial NMOSD.