Open AccessSJOGREN-LARSSON SYNDROME
Author(s) -
Fawad Muzaffar,
Majid Suhail
Publication year - 2006
Publication title -
the professional medical journal/the professional medical journal
Language(s) - English
Resource type - Journals
eISSN - 2071-7733
pISSN - 1024-8919
DOI - 10.29309/tpmj/2006.13.02.5038
Subject(s) - medicine , congenital ichthyosis , spastic diplegia , dermatology , ichthyosis , pediatrics , cerebral palsy , physical therapy
We present a case report of two brothers suffering from Sjogren-Larsson syndrome, who were bornto consanguineous parents. Sjogren-Larsson syndrome is one of the congenital icthyoses with an autosomal recessiveinheritance . It is characterized by the combination of 1 congenital ichthyosis with spastic diplegia, moderate mentalretardation and retinopathy.2,3,16. Defects in essential fatty acid metabolism have been attributed to as the cause4,8,13,15.