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Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system
  1. Ujjawal Roy,
  2. Urmila Das,
  3. Alak Pandit,
  4. Anjan Debnath
  1. Department of Neurology, Bangur Institute of Neurosciences (BIN), IPGMER, Kolkata, West Bengal, India
  1. Correspondence to Dr Ujjawal Roy, drujjawalroy{at}


Sjögren-Larsson syndrome is a recessively inherited disease caused by a deficiency of fatty aldehyde dehydrogenase with presenting features of congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation. The basic pathogenic mechanism is deficiency of fatty aldehyde dehydrogenase, which may lead to an accumulation of long-chain fatty alcohols hampering cell membrane integrity, which further disrupts the barrier function of skin and white matter of the brain. MRI of the brain shows diffuse symmetrical white matter hyperintensities on T2-weighted sequences. Although there is no definitive cure for Sjögren-Larsson syndrome, most patients survive until adulthood and management involves therapies directed towards controlling specific problems. We present a case of Sjögren-Larsson syndrome with classical clinical and MRI features, including a few distinctly atypical characteristics in various attributes.

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