ABSTRACT
Congenital cranial dysinnervation disorders result from a maldevelopment of brainstem nuclei and/or cranial nerves. In some cases, specific genetic abnormalities have been identified. We expand the clinical phenotype of these disorders with the report of a 28-month-old girl who was initially evaluated for seizures and was found to have right sixth nerve palsy, small optic discs with reduced vision in her right eye. Her development was delayed. Brain MRI showed multiple abnormalities involving other cranial nerves, the optic chiasm and brainstem. Her developmental delay and seizure disorder suggest additional cortical involvement.
Subject(s)
Cranial Nerve Diseases/congenital , Cranial Nerve Diseases/diagnostic imaging , Cranial Nerves/diagnostic imaging , Child, Preschool , Cranial Nerve Diseases/complications , Developmental Disabilities/diagnostic imaging , Developmental Disabilities/etiology , Female , Humans , Magnetic Resonance Imaging , Neuroimaging , Seizures/diagnostic imaging , Seizures/etiologySubject(s)
Arthritis, Rheumatoid/therapy , Corneal Opacity/chemically induced , Eye Abnormalities/chemically induced , Hydroxychloroquine/adverse effects , Methotrexate/adverse effects , Prenatal Exposure Delayed Effects/chemically induced , Anterior Eye Segment/abnormalities , Antirheumatic Agents/adverse effects , Enzyme Inhibitors/adverse effects , Female , Humans , Infant, Newborn , PregnancyABSTRACT
Bilateral lesions of the lateral geniculate bodies are rare and produce unusual field defects that can be predicted on the basis of their vascular anatomy. We report a rare case of bilateral sectoranopic visual field defects caused by bilateral infarction of the lateral geniculate nucleus in a 14-year-old boy with inflammatory bowel disease and recurrent pancreatitis.
