Optic nerve enlargement and leukodystrophy: an unusual finding of the infantile form of Krabbe disease.

Pediatric Neurology Unit, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre RS, Brazil; Genetic Department, HCPA; Medical Genetic Service, HCPA; Professor of the Genetic Department, HCPA; Neuroradiology Department of Hospital Moinhos de Vento, Porto Alegre RS, Brazil; Pediatric Neurologist, Head of the Pediatric Neurology Unit, HCPA. Adjunct Professor, Universidade Federal do Rio Grande do Sul, Porto Alegre RS, Brazil; Pediatric Neurologist, Adjunct Professor, Universidade Federal do Rio Grande do Sul, Porto Alegre RS, Brazil. Leukodystrophies are a heterogeneous group of inherited neurological disorders characterized by progressive demyelination that causes loss of motor, sensory and intellectual functions leading to a fatal outcome. These disorders result from dysfunctions in myelin metabolism as a consequence of genetic enzymatic defects specific to each leukodystrophy subtype. Krabbe disease (KD), also called globoid cell leukodystrophy (GCL), is inherited in an autosomal recessive pattern and has an estimated incidence of 1 in each 100,000/200,000 live births. It affects the peripheral and central nervous system (CNS). We report on two cases of the infantile form of KD and describe MRI findings that suggest optic nerve enlargement (ONE).