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Sjogren Larsson sendromu : vaka takdimi

Sjogren Larsson syndrome: a case report

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Abstract (2. Language): 
Sjogren Larsson syndrome is an autosomal recessive disorder, characterized by congenital ichtiyosis, mental retardation and spastic diplegia tetraplegia. These patients have impaired fatty alcohol oxidation, li e presented a female patient, 11 months of age, with congenital ichtyosis. spastic diplegia, cerebral cortical atrophy and subdural effusion. [Journal of Turgut Özal Medical Center l(3):207-209,1994]
Abstract (Original Language): 
Sjogren Larsson sendromu konjenital ihtiyozis, sftastık dipleji'tetrapleji ve mental retardasyon ile karakterize otozomal resesif geçişli bir hastalıktır. Hastalardaki temel patoloji yağ alkol oksıdasyon bozukluğundaki yetmezliktir. Bu çalışmada ihtiyozis, spastik diple/i, serebral kortikal atrojı ve subdural ejiizyon nedeniyle izlediğimiz 11 aylık bir kız hastamızı takdim ettik. {Turgut Özal Tıp Merkezi Dergisi 1(3):20~-209,1994]
207-209

REFERENCES

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