Author Of 1 Presentation
P0687 - Aquaporin-4 neuromyelitis optica spectrum disorder in a 5-year-old girl presenting with neuropsychiatric symptoms (ID 363)
Abstract
Background
Neuromyelitis Optica Spectrum Disorder (NMOSD) is a rare autoimmune inflammatory condition that affects the central nervous system and a majority of cases have antibodies directed against the aquaporin-4 (AQP4) water transport channel. AQP4-NMOSD is exceedingly rare in young children. A predominantly neuropsychiatric manifestation in young children is not a commonly reported phenotype.
Objectives
To report a case of severe aquaporin-4 NMOSD in a young child presenting with neuropsychiatric symptoms and lethargy.
Methods
A case report with information obtained from the medical records and from providers involved in the care of this child.
Results
A 5-year-old previously healthy African American girl presented with subacute onset lethargy and psychiatric symptoms, including visual hallucinations, delusions, paranoia, and disinhibition. She was initially seen 2 weeks after symptom onset and was diagnosed with presumed viral meningitis. Lumbar puncture at that time was remarkable for leukocytosis (WBC 17, 98% lymphocytes) but cultures were negative. She represented 3 weeks after symptom onset, with repeat CSF studies showing worsening leukocytosis (WBC 80, 94% lymphocytes). MRI brain was significant for hyperintense signal changes within the medial thalami, hypothalamus, and central optic pathway. MRI of the cervical and thoracic spine were normal. She continued to decline with severely impaired arousal and acute respiratory failure requiring intubation and mechanical ventilation. Her clinical presentation was suspicious for NMOSD and she was treated with high dose pulse steroid therapy and plasma exchange. Testing prior to initiation of treatment showed that her AQP-4 antibodies were negative in the serum (via cell based assay and flow cytometry testing) but positive in the CSF (via indirect immunofluorescence). She was started on maintenance therapy with rituximab, with complete resolution of symptoms at follow-up, 4 months after discharge.
Conclusions
To our knowledge, this is one of the youngest reported cases of AQP4-NMOSD and the first reported case of a child with AQP4-NMOSD who initially presented with behavioral concerns and neuropsychiatric symptoms. She was also found to be negative for serum AQP4 antibodies but tested positive for CSF AQP4 antibodies. This emphasizes the need to consider CSF testing for AQP4 antibodies should the serum test be negative in cases of high suspicion, contrary to current literature suggesting higher sensitivity with serum testing.
Presenter Of 1 Presentation
P0687 - Aquaporin-4 neuromyelitis optica spectrum disorder in a 5-year-old girl presenting with neuropsychiatric symptoms (ID 363)
Abstract
Background
Neuromyelitis Optica Spectrum Disorder (NMOSD) is a rare autoimmune inflammatory condition that affects the central nervous system and a majority of cases have antibodies directed against the aquaporin-4 (AQP4) water transport channel. AQP4-NMOSD is exceedingly rare in young children. A predominantly neuropsychiatric manifestation in young children is not a commonly reported phenotype.
Objectives
To report a case of severe aquaporin-4 NMOSD in a young child presenting with neuropsychiatric symptoms and lethargy.
Methods
A case report with information obtained from the medical records and from providers involved in the care of this child.
Results
A 5-year-old previously healthy African American girl presented with subacute onset lethargy and psychiatric symptoms, including visual hallucinations, delusions, paranoia, and disinhibition. She was initially seen 2 weeks after symptom onset and was diagnosed with presumed viral meningitis. Lumbar puncture at that time was remarkable for leukocytosis (WBC 17, 98% lymphocytes) but cultures were negative. She represented 3 weeks after symptom onset, with repeat CSF studies showing worsening leukocytosis (WBC 80, 94% lymphocytes). MRI brain was significant for hyperintense signal changes within the medial thalami, hypothalamus, and central optic pathway. MRI of the cervical and thoracic spine were normal. She continued to decline with severely impaired arousal and acute respiratory failure requiring intubation and mechanical ventilation. Her clinical presentation was suspicious for NMOSD and she was treated with high dose pulse steroid therapy and plasma exchange. Testing prior to initiation of treatment showed that her AQP-4 antibodies were negative in the serum (via cell based assay and flow cytometry testing) but positive in the CSF (via indirect immunofluorescence). She was started on maintenance therapy with rituximab, with complete resolution of symptoms at follow-up, 4 months after discharge.
Conclusions
To our knowledge, this is one of the youngest reported cases of AQP4-NMOSD and the first reported case of a child with AQP4-NMOSD who initially presented with behavioral concerns and neuropsychiatric symptoms. She was also found to be negative for serum AQP4 antibodies but tested positive for CSF AQP4 antibodies. This emphasizes the need to consider CSF testing for AQP4 antibodies should the serum test be negative in cases of high suspicion, contrary to current literature suggesting higher sensitivity with serum testing.