Sjögren-Larsson Sendromu: Olgu Sunumu

Öz

Sjögren-Larsson sendromu (SLS) yağ aldehitinin yağ asidine oksidasyonunu kata- lize eden yağ aldehit dehidrogenaz enzimini (FALDH) kodlayan ALDH3A2 gen mutasyonu sonucu gelişir. Spastisite, konjenital iktiyozis ve zihinsel engellilik triadıyla seyreden otozomal resesif geçişli nadir bir nörokütanöz hastalıktır. Kliniğimize bir yaşında iktiyozis ve nöbet nedeniyle başvuran kız hastada gelişme geriliği ve spastik dipleji bulguları da saptandı. Temel metabolik taramaları, beyin manyetik rezonans görüntüleme (MRG) ve elektroensefalografi (EEG) normal olarak değerlendirildi. Genetik incelemesi sonucu tüm ekzom dizileme tekniği (WES) ile ALDH3A2 geninde homozigot patojenik varyant saptanan hastaya Sjögren-Larsson sendromu tanısı konuldu. Bu olgu, nadir görülen Sjögren-Larsson sendromunun, iktiyozis, gelişim geriliği ve spastisitenin ayırıcı tanısında düşünülmesi gerektiğini vurgulamak amacıyla takdim edilmiştir.

Anahtar Kelimeler

• Sjögren-Larsson sendromu
• İktiyozis
• Spastisite
• Zihinsel gerilik
• ALDH3A2 gen
• FALDH

Sjögren-Larsson Syndrome: Case Report

Öz

Sjögren-Larsson syndrome (SLS) is caused by a mutation in the ALDH3A2 gene encoding the fatty aldehyde dehydrogenase (FALDH) enzyme, that catalyzes the oxidation of fatty aldehydes into fatty acids. It is a rare autosomal recessive neurocutaneous disorder characterized by the triad of spasticity, congenital ichthyosis and intellectual disability. A one-year-old girl was admitted to our clinic with ichthyosis and seizures. Developmental delay and spastic diplegia were also found in the evaluation. Basic metabolic tests, brain magnetic resonance imaging (MRI) and electroencephalography (EEG) were normal. The patient was diagnosed with Sjögren-Larsson syndrome with homozygous pathogenic variant in ALDH3A2 gene by Whole Exome Sequencing (WES). This case is presented to emphasize that the rare Sjögren-Larsson syndrome should be considered in the differential diagnosis of ichthyosis, developmental delay and spasticity.

Anahtar Kelimeler

• Sjögren-Larsson syndrome
• Ichthyosis
• Spasticity
• Intellectual disability
• ALDH3A2 gene
• FALDH

Kaynakça

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