RESUMO
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.
Assuntos
Humanos , Feminino , Criança , Neuropatia Axonal Gigante/patologia , Doenças do Cabelo/patologia , Microscopia Eletrônica de Varredura , Evolução Fatal , Neuropatia Axonal Gigante/complicações , Cabelo/patologia , Doenças do Cabelo/genética , MutaçãoRESUMO
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.
Assuntos
Neuropatia Axonal Gigante/patologia , Doenças do Cabelo/patologia , Criança , Evolução Fatal , Feminino , Neuropatia Axonal Gigante/complicações , Cabelo/patologia , Doenças do Cabelo/genética , Humanos , Microscopia Eletrônica de Varredura , MutaçãoRESUMO
No disponible
Assuntos
Idoso de 80 Anos ou mais , Feminino , Humanos , Neuropatia Hereditária Motora e Sensorial/complicações , Neuropatia Axonal Gigante/complicações , Neuropatia Axonal Gigante , Cardiopatias/complicações , Cardiopatias , Troponina I/uso terapêutico , Esofagite/complicações , Esofagite , Dor no Peito/complicações , Dor no Peito , Eletromiografia/métodos , Eletromiografia/tendênciasRESUMO
No disponible