title: Pili canaliculi as manifestation of giant axonal neuropathy.
abstract: Giant axonal neuropathy is a rare autosomal recessive neurodegenerative disease. The condition is characterized by neurons with abnormally large axons due to intracellular filament accumulation. The swollen axons affect both the peripheral and central nervous system. A 6-year old female patient had been referred to a geneticist reporting problems with walking and hypotonia. At the age of 10, she became wheelchair dependent. Scanning electron microscopy of a curly hair classified it as pili canaliculi. GAN gene sequencing demonstrated mutation c.1456G>A (p.GLU486LYS). At the age of 12, the patient died due to respiratory complications. Dermatologists should be aware of this entity since hair changes are considered suggestive of GAN.
authors.affiliation: Universidade Federal de Pelotas (UFPel) - Pelotas (RS), Brazil.
authors.forename: Hiram Larangeira de
authors.initials: HL
authors.lastname: Almeida
authors.affiliation: Universidade Federal de Pelotas (UFPel) - Pelotas (RS), Brazil.
authors.forename: Gilberto
authors.initials: G
authors.lastname: Garcias
authors.affiliation: Universidade Federal de Pelotas (UFPel) - Pelotas (RS), Brazil.
authors.forename: Ricardo Marques E
authors.initials: RM
authors.lastname: Silva
authors.affiliation: Universidade Federal de Pelotas (UFPel) - Pelotas (RS), Brazil.
authors.forename: Stela Laner
authors.initials: SL
authors.lastname: Batista
authors.affiliation: Universidade Federal de Pelotas (UFPel) - Pelotas (RS), Brazil.
authors.forename: Fernanda
authors.initials: F
authors.lastname: Pasetto
mesh_terms: D002648:Child; D017809:Fatal Outcome; D005260:Female; D056768:Giant Axonal Neuropathy / Q000150:complications / Q000473:pathology*; D006197:Hair / Q000473:pathology; D006201:Hair Diseases / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008855:Microscopy, Electron, Scanning; D009154:Mutation