[Neuro-acanthocytosis with associated myopathy. A case report].
Abnormalities of striated muscle histology in patients with neuroacanthocytosis have been previously attributed to chronic denervation. This hypothesis is based in the presence of axonal peripheral neuropathy. In this 37-year-old patient clinical, biochemical and histologic data revealed a non specific primary myopathy. Other important findings were decreased levels of 5-hydroxy-indoleacetic acid (5-HILA) and homovanillic acid (HVA) in the CSF, cerebellar and basal ganglia atrophy seen in MRI and infertility of probable gonadal origin.
Gil-Nagel
A
A
Sección de Neurología, Hospital Universitario de Getafe, Madrid.
Morlán
L
L
Balseiro
J
J
García de Yébenes
J
J
Cabello
A
A
Martínez-Martín
P
P
D000050:Acanthocytes; D000328:Adult; D001479:Basal Ganglia / Q000503:physiopathology; D001491:Basophils / Q000648:ultrastructure; D001927:Brain Diseases / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*; D002531:Cerebellum / Q000503:physiopathology; D003714:Denervation; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000134:cerebrospinal fluid; D008279:Magnetic Resonance Imaging; D008297:Male; D009069:Movement Disorders / Q000209:etiology / Q000503:physiopathology; D009135:Muscular Diseases / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*
D006897:Hydroxyindoleacetic Acid; D006719:Homovanillic Acid