Sjogren-Larsson syndrome: management

Evidence-based neurology checklist on sjogren-larsson syndrome: management: Magnetic resonance imaging (MRI) brain: features Arrest of myelination Periventricular white matter signal abnormalities Mild ventricular enlargement Magnetic resonance spectroscopy (MRS): this shows abnormal lipid peaks…

Magnetic resonance imaging (MRI) brain: features

  • Arrest of myelination
  • Periventricular white matter signal abnormalities
  • Mild ventricular enlargement
  • Magnetic resonance spectroscopy (MRS): this shows abnormal lipid peaks

Electroencephalogram (EEG)

Treatment of ichthyosis

Potential treatments

References

  1. Willemsen MA, IJlst L, Steijlen PM, et al. Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. Brain 2001; 124:1426-1437.
  2. Moghaddam FR, Safar F, Asheghan M, Soltani ZR, Zade FD. Sjögren-Larsson syndrome in two brothers: a case report. Cases J 2009; 2:8434. 
  3. Nagappa M, Bindu PS, Chiplunkar S, et al. Child Neurology: Sjögren-Larsson syndrome. Neurology 2017; 88:e1-e4.

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