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Friedreich's ataxia, the most common hereditary ataxia, is caused by expansion of a GAA triplet located within the first intron of the frataxin gene on chromosome 9q13. There is a clear correlation between size of the expanded repeat and severity of the phenotype. Frataxin is a mitochondrial protein that plays a role in iron homeostasis. Deficiency of(More)
The aim of this study was to compare the characteristics of the first demyelinating event between acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS). Children with acute demyelinating disease of the central nervous system and an abnormal brain magnetic resonance image (MRI) were studied. Patients were assigned a final diagnosis after(More)
Castleman syndrome (giant lymph node hyperplasia) is a rare, heterogeneous lymphoproliferative disorder of unknown etiology and pathogenesis. Most cases occur as mediastinal masses, although extrathoracic involvement including nodal and extranodal locations have been reported. The localized variants (solitary lesions) respond well to surgical excision. We(More)
Acute disseminated encephalomyelitis is an immune-mediated inflammatory and demyelinating disorder of the central nervous system, commonly preceded by an infection. It principally involves the white matter tracts of the cerebral hemispheres, brainstem, optic nerves, and spinal cord. Acute disseminated encephalomyelitis mainly affects children. Clinically,(More)
Benign macrocephaly of infancy is a common problem in the child neurology practice. The radiologic features of this entity are not well defined. In most of the previous studies, macrocephalic patients were evaluated by computed tomography. To define the radiologic characteristics of this entity, 20 children with macrocephaly with normal neurologic(More)
Eukaryotic initiation factor 2B (eIF2B)-related disorders are heritable white matter disorders with a variable clinical phenotype (including vanishing white matter disease and ovarioleukodystrophy) and an equally heterogeneous genotype. We report 9 novel mutations in the EIF2B genes in our subject population, increasing the number of known mutations to more(More)
Acute demyelinating optic neuritis in children can occur in isolation or be associated with acute disseminated encephalomyelitis, multiple sclerosis, or neuromyelitis optica. Clinical features, neuroimaging, cerebrospinal fluid findings, and long-term prognosis were reviewed in 26 children diagnosed with optic neuritis at the first presentation of(More)
OBJECTIVE To assess the utility and safety of rituximab in pediatric autoimmune and inflammatory disorders of the CNS. METHODS Multicenter retrospective study. RESULTS A total of 144 children and adolescents (median age 8 years, range 0.7-17; 103 female) with NMDA receptor (NMDAR) encephalitis (n = 39), opsoclonus myoclonus ataxia syndrome (n = 32),(More)