[Neuro-acanthocytosis with associated myopathy. A case report].

Abstract

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.

• Authors: A Gil-Nagel, L Morlán, J Balseiro, J García de Yébenes, A Cabello, P Martínez-Martín
• Journal: Neurologia (Barcelona, Spain) (Neurologia) Vol. 9 Issue 4 Pg. 165-8 (Apr 1994) ISSN: 0213-4853 [Print] Spain
• Vernacular Title: Neuroacantocitosis con miopatía asociada. Estudio de un caso.
• PMID: 7517146 (Publication Type: Case Reports, English Abstract, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hydroxyindoleacetic Acid
• Homovanillic Acid

Topics

• Acanthocytes
• Adult
• Basal Ganglia (physiopathology)
• Basophils (ultrastructure)
• Brain Diseases (complications, diagnosis, physiopathology)
• Cerebellum (physiopathology)
• Denervation
• Homovanillic Acid (cerebrospinal fluid)
• Humans
• Hydroxyindoleacetic Acid (cerebrospinal fluid)
• Magnetic Resonance Imaging
• Male
• Movement Disorders (etiology, physiopathology)
• Muscular Diseases (complications, diagnosis, physiopathology)