Short case...Friedreich ataxia


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Short case...Friedreich ataxia

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Short case...Friedreich ataxia

  1. 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: 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. 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. 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
  4. 4. Addendum A new version of short case is uploaded in my web site every week (every Saturday and remains available till Friday.) To download the current version follow the link "". You can download the long case version of this short case during the same week from: or visit web site: To download the software version of the publication (crow.exe) follow the link: At the end of each year, all the publications are compiled on a single CD-ROM, please contact the author to know more details. Also to view a list of the previously published case records follow the following link: ( or click on it if it appears as a link in your PDF reader To inspect the patient's full radiological study, click on the attachment icon (the paper clip icon in the left pane) of the acrobat reader then double click on the attached file Click here to download the long case version of this short case in PDF format