title: [Sjögren-Larsson syndrome: 2 case reports].
abstract: Sjögren-Larsson syndrome (SLS) is a neurocutaneous autosomal recessive disease caused by fatty aldehyde dehydrogenase (FADH) deficiency. This enzyme is involved in the biosynthesis pathways of some fatty acids, phytanic acid, and leukotrienes. The main features of the disease are its association with congenital ichthyosis, mental retardation, and spastic tetraplegia.
  
  
  METHODS
  We report on the diagnostic and therapeutic management of 2 cases of SLS.
  
  
  RESULTS
  The diagnosis of SLS was suspected in the first patient at 2 years of age before the clinical triad appeared and confirmed at 4 years of age by the culture of fibroblasts and the peak of lipids on 1.3 ppm spectroscopy. After 3 months of treatment with zileuton, an inhibitor of leukotriene synthesis, moderate clinical efficacy for pruritus and ichthyosis was observed. The second patient was diagnosed at 1 year of age with the association of psychomotor retardation and congenital ichthyosis, in accordance with acute Guillain-Barré syndrome. Diagnosis was confirmed with enzymology, and cerebral spectro-MRI featured an abnormal lipidic peak. Zileuton therapy was initiated at the time of diagnosis and was effective for pruritus after 6 months of treatment.
  
  
  CONCLUSIONS
  We report 2 cases of SLS with delayed diagnosis, due to non neonatal symptoms. Treatment with zileuton shows partial efficacy especially in pruritus. The uncommon association of this rare dysmyelinating disease with Guillain-Barré syndrome in the second patient is discussed.
authors.affiliation: Centre de référence des maladies héréditaires du métabolisme, hôpital Robert-Debré, AP-HP, Paris, France. clairebertail@hotmail.fr
authors.forename: C
authors.initials: C
authors.lastname: Galoin-Bertail
authors.forename: H
authors.initials: H
authors.lastname: Ogier de Baulny
authors.forename: R
authors.initials: R
authors.lastname: Wanders
authors.forename: M
authors.initials: M
authors.lastname: Schiff
authors.forename: V
authors.initials: V
authors.lastname: Bellavoine
authors.forename: A
authors.initials: A
authors.lastname: Mlika
authors.forename: G
authors.initials: G
authors.lastname: Benoist
authors.forename: J
authors.initials: J
authors.lastname: Baruteau
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis