Neuromyelitis optica complicating autoimmune lymphoproliferative syndrome in a 4-year-old girl

Abstract

A 4-year-old girl with autoimmune lymphoproliferative syndrome (ALPS) presented a week after an episode of rotavirus-positive gastroenteritis with signs of meningism. Twelve hours later she developed an erythematous rash and had a generalized seizure. Neurological examination and computed tomography of the head was normal. Five days later she developed a dense quadriplegia. Magnetic resonance imaging showed expansion of the cervical and thoracic cord down to T7 with extensive high signal from the medulla to T6, consistent with transverse myelitis (image). She was treated with immunoglobulin and methylprednisolone for 5 d and made a complete recovery over 2 weeks. After recovery, lumbar puncture was performed. Cerebrospinal fluid (CSF) analysis demonstrated an elevated neopterin level and an increased immunoglobulin G/albumin index. Oligoclonal bands were not detected. Culture and polymerase chain reaction analysis of blood and CSF were negative. Serum was positive for anti-Aquaporin 4 antibody (she has subsequently become negative), consistent with the diagnosis of neuromyelitis optica. Two years previously she had been diagnosed with ALPS after presenting with a petechial rash and persistent thrombocytopenia. She is well controlled on monthly immunoglobulin infusions and bi-annual courses of rituximab. She is developmentally normal with a past medical history of insulin-dependent diabetes mellitus and a family history of autoimmune disease.