RESUMEN
Neuromyelitis optica (NMO), also known as Devic's disease, is a chronic inflammatory disorder of the optic nerve and the spinal cord. Similar to multiple sclerosis, it has a relapsing and remitting characteristic. The disease is characterized by optic neuritis and longitudinal extensive inflammation of the spinal cord. Magnetic resonance imaging (MRI) is the modality of choice for this disorder. The serological examination also shows the presence of aquaporin-4 (AQP4) autoantibodies. MRI shows longitudinal extensive transverse myelitis and signs of optic neuritis such as inflammation of the optic nerve. The treatment is based on intravenous corticosteroids with or without plasmapheresis. The current case is a 25-year-old African American male patient who presented with multiple sclerosis-like symptoms (i.e., optic neuritis and transverse myelitis) but turned out to have NMO. Serological examination reveals the absence of AQP4 autoantibodies. A radiological examination showed swelling in the cervical cord. This case report strongly focuses on the radiological findings of NMO.
RESUMEN
A subset of hereditary white matter disorders called hypomyelinating leukodystrophies (HLD) is characterized primarily by the absence of myelin deposition. Although the clinical presentation can be mild and the development of symptoms can occur in adolescence or adulthood, the majority of severe cases present during infancy and early childhood with significant neurological impairments. The clinical features vary from muscle stiffness to seizures and developmental delay. The detailed myelination process can be seen with magnetic resonance imaging (MRI), and many patients are diagnosed using MRI pattern recognition and next-generation sequencing (NGS) in most cases. Here, we report a case of an infant suffering from the hypomyelinating leukodystrophy-13 (HLD-13) variant, whose next-generation sequencing revealed a pathogenic homozygous variant.