Abstract
Dystrophic axons were found in the biopsied muscle tissue of a 17-month-old hypotonic infant after confirmation of a diagnosis of infantile neuroaxonal dystrophy (INAD) by subsequent peripheral nerve biopsy. He manifested gradual deterioration and had brief tonic seizures. The sural nerve biopsy, performed at age 42 months, confirmed INAD. Intensive ultrastructural investigation of the preceding muscle biopsy specimens demonstrated infrequent but definite findings of axonal degeneration in the musculature. Ultrastructural investigation of muscle biopsy should include a careful search for neural tissue because in INAD axonal changes occur primarily in the presynaptic region.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.