title: [Infantile neuroaxonal dystrophy: report of 2 cases].
abstract: We describe two cases of infantile neuroaxonal dystrophy, which is a rare, neurodegenerative disease, with autosomal recessive inheritance. The first case was an 8 year old boy, with arrested motor and mental development, ataxia and muscle weakness. On physical examination there was horizontal and vertical nystagmus, optic disc atrophy, hypotonia; deep tendon reflexes were absent. The second case was a 1.6 year old boy with arrested motor and mental development, and seizures. On physical examination there was optic atrophy, hypertonia and hyperreflexia. Both patients had on sural nerve biopsy neuronal enlargement, consistent with neuroaxonal dystrophy. Diagnosis without pathological confirmation with neuroaxonal spheroids is very difficult, because the clinical picture is variable and the neurophysiological findings are non specific.
authors.affiliation: Departamento de Clínica Médica do Hospital de Clínicas da Universidade Federal do Paraná, Curitiba PR-Brasil. scola@hc.ufpr.br
authors.forename: R H
authors.initials: RH
authors.lastname: Scola
authors.forename: L C
authors.initials: LC
authors.lastname: Werneck
authors.forename: C S
authors.initials: CS
authors.lastname: Ramos
authors.forename: L M
authors.initials: LM
authors.lastname: Barea
authors.forename: F M
authors.initials: FM
authors.lastname: da Cunha
authors.forename: A M
authors.initials: AM
authors.lastname: Sanderson
mesh_terms: D001706:Biopsy; D002648:Child; D004569:Electroencephalography; D006801:Humans; D007223:Infant; D008297:Male; D019150:Neuroaxonal Dystrophies / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology; D014057:Tomography, X-Ray Computed