Sjögren-Larsson Sendromu: İki Olgu Sunumu

Sjögren Larsson sendromu; otozomal resesif geçişli, yağ aldehit dehidrogenaz enzimini kodlayan ALDH3A2 genindeki mutasyon sonucu oluşan nörokutanöz bir hastalıktır. Görülme sıklığının 1/250.000 olduğu tahmin edilmektedir. Sendrom konjenital iktiyozis, spastik dipleji ve mental retardasyon ile karakterizedir. Klinik bulgular prenatal dönemde ve bebeklik döneminde ortaya çıkar. Hastalığın tanısı deri fibroblast kültürlerinde yağ asidi aldehit dehidrogenaz ya da yağ alkol oksidoredüktaz enzim aktivitesinin ölçülmesi ile konur. Tanı genetik olarak da ALDH3A2 geninin mutasyon analizi ile doğrulanabilir. Bu yazıda iktiyozis, gelişme geriliği ve spastik diplejisi olan iki olgu tariflenmiştir. Bu iki olguyu iktiyozis ve spastik diplejinin birlikteliğinde, ayırıcı tanıda bu sendromun da düşünülmesi gerektiğini vurgulamak amacıyla sunduk.

Sjögren-Larsson Syndrome: Report of Two Cases

Sjögren-Larsson syndrome is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene that is encoding fatty aldehyde dehydrogenase. Prevalence is estimated at 1/250,000.The syndrome is characterized by congenital ichthyosis, spastic diplegia and mental retardation. Clinical features develop prenatally and during infancy. The diagnosis of Sjögren-Larrson syndrome is confirmed by measuring fatty acid aldeyhde dehydrogenase or fatty alcohol oxidoreductase activity in cultured fibroblasts from skin biopsies. Diagnosis can be confirmed by mutation analysis of the ALDH3A2 gene. In this article two patients with ichthyosis, developmental delay, spastic diplegia were described. We reported these cases because Sjögren-Larrson syndrome is a very rare disease and should be kept in mind in the differantial diagnosis of coexisting ichtyosis and spastic diplegia.

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