NADİR GÖRÜLEN NÖRODEJENERATİF LİZOZOMAL DEPO HASTALIĞI: SCHİNDLER HASTALIĞI A Rare Neurodegenerati̇ve Lysosomal Storage Diṡ ease: Schiṅ dler Diṡ ease

Yıl 2020, Cilt: 10 Sayı: 4, 115 - 118, 15.12.2020

Duygu Kurt Gök Mehmet Fatih Göl Füsun Ferda Erdoğan

Öz

ÖZET
Schindler hastalığı ilk kez 1987 yılında iki Alman kardeşte α-N-asetilgalaktozaminidaz (α-NAGAL) eksikliğinin
neden olduğu nöbetler, entelektüel disabilite, dekortike postür, körlük ile giden bir hastalık olarak bildirilmiştir.
Otozomal resesif kalıtılan, nadir görülen lizozomal depo hastalığı olan Schindler hastalığı tip I(infantil
başlangıçlı bir nöroaksonal distrofi), tip II(hafif entellektüel yetersizliği olan yetişkin başlangıçlı bir bozukluk),
tip III(hafif-orta dereceli nörolojik tutulumun eşlik ettiği bir ara fenotip) olarak üç ana fenotipe sahiptir. Bu
olgu sunumunda 5 yaşına kadar herhangi bir şikayeti olmayan ardından görme ve konuşma bozukluğu, yürüme
güçlüğü, idrar kaçırma, davranış problemi ve nöbetleri başlayan hasta sunuldu. Kliniği ile birlikte değerlendirilen
hastanın nörometabolik hastalıklar yönünden gönderilen tetkiklerinde NAGA geninde mutasyon
saptanan hastaya Schindler hastalığı tip 3 tanısı konuldu. Bu hastalık nadir olmasına rağmen ayırıcı tanıda
düşünülmeli ve gerekli genetik danışmanlık aileye verilmelidir.
Anahtar Kelimeler: Epilepsi; Lizozomal Depo Hastalığı; Schindler Hastalığı
ABSTRACT
Schindler's disease was first described as a disease in 1987 following the reports of two German siblings
with seizures caused by the deficiency of α-N-acetylgalactosaminidase(α-NAGAL), intellectual disability, decorticate
posture, and blindness. Schindler's disease which is a rare lysosomal storage disease with autosomal
recessive inheritance is categorised into three main phenotypes: Schindler disease Type I (a neuroaxonal
dystrophy with onset in infancy), Type II(mild intellectual impairment with onset in adulthood), and Type
III(an intermediate phenotype with mild to severe neurological involvement). We herein report a case of a
patient with no initial symptoms until the age of 5, followed by the presentation of symptoms such as visual
and speech impairments, intellectual disability and seizures. Upon the examination of the patient with the
clinic, the genetic tests revealed mutations in the NAGA gene, and the patient was diagnosed with Schindler
disease type III. Although this disease is rare, it should be considered as a differential diagnosis in the children
of consanguineous families and the family should be provided with the necessary genetic counselling.
Keywords: Epilepsy; Lysosomal Storage Disease; Schindler Disease

Anahtar Kelimeler

NADİR GÖRÜLEN NÖRODEJENERATİF, LİZOZOMAL DEPO HASTALIĞI, SCHİNDLER HASTALIĞI

Kaynakça

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