This document summarizes a case report of a 22-year-old male patient diagnosed with Friedreich's ataxia. The patient presented with bilateral cerebellar ataxia, pyramidal signs, loss of tendon reflexes, peripheral neuropathy, enlarged nerves, kyphoscoliosis, and pes cavus. Nerve biopsy revealed demyelinating neuropathy. MRI showed cervical spinal cord atrophy. The clinical diagnosis was Friedreich's ataxia based on the progressive nature of symptoms starting at age 12. The document provides figures of MRI images and references for further information on the case.

1. Short case publication... Version 3.21 | Edited by professor Yasser Metwally | May 2010
Short case
Edited by
Professor Yasser Metwally
Professor of neurology
Ain Shams university school of medicine
Cairo, Egypt
Visit my web site at:
http://yassermetwally.com
A 22 years old male patient presented clinically with bilateral cerebellar ataxia, bilateral pyramidal manifestations, lost tendon
jerk reflexes, peripheral neuropathy with peroneal muscular atrophy, enlarged peripheral nerves, kyphoscoliosis, and pes
cavus. Peripheral nerve biopsy revealed diffuse demyelinating neuropathy with onion bulb formation. The condition started
at the age of 12 and is gradually progressive. The clinical diagnosis of Friedreich ataxia was made.
DIAGNOSIS: FRIEDREICH'S ATAXIA

2. Figure 1. MRI of the brain showing normal findings
Figure 2. MRI T2 (A,B) and MRI T1 (C) showing marked atrophy of the uppermost part of the cervical spinal
cord

3. Figure 3. MRI T1 (A) and MRI T2 (B)
showing marked atrophy of the
uppermost part of the cervical spinal cord
Figure 4. MRI T2 images showings cervical cord atrophy, thinning with reduced anteroposterior diameter. Notice
the hyperintense line in posterior portion of cord. The thinned spinal cord is seen lying on the posterior wall of
spinal canal with increased signal intensity in its posterior and lateral compartments. The anterior subarachnoid
space is enlarged. The intramedullary signal changes reflect loss of myelinated fibers and gliosis.
References
1. Metwally, MYM: Textbook of neurimaging, A CD-ROM publication, (Metwally, MYM editor) WEB-CD agency for
electronic publishing, version 11.2a April 2010

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