[Sjögren-Larsson syndrome: a novel mutation in a Moroccan child].

Abstract

Sjögren-Larsson syndrome is a very rare inherited neurocutaneous disorder caused by a deficiency of microsomal enzyme fatty aldehyde dehydrogenase (FALDH). The authors report a case of typical Sjögren-Larsson syndrome in a 7-year-old Moroccan child who presented with classical symptoms (congenital ichthyosis, mental retardation, and spastic paraparesis) and epilepsy. The genetic study revealed a new mutation in the FALDH gene mapped to chromosome 17, consisting in a G109A substitution in exon 2.

• Authors: M A Rafai, F Z Boulaajaj, A Seito, Y Suga, I Slassi, H Fadel
• Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie (Arch Pediatr) Vol. 15 Issue 11 Pg. 1648-51 (Nov 2008) ISSN: 0929-693X [Print] France
• Vernacular Title: Syndrome de Sjögren-Larsson en rapport avec une nouvelle mutation chez un enfant marocain.
• PMID: 18951768 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Aldehyde Oxidoreductases
• long-chain-aldehyde dehydrogenase

Topics

• Aldehyde Oxidoreductases (genetics)
• Child
• Female
• Humans
• Morocco
• Mutation
• Pedigree