Özet:

Schindler's disease was first in 1987 as an illness that goes with the absence of α-N-acetylgalactosaminidase (α-NAGAL) in two German brothers, intellectual disability, decorative posture, blindness. The disease of Schindler, which is autosomal resessive, has three main phenotypes: type I (infantly-initial neuroxonal distrophy), type II (adult-initial disorder with mild intellectual disability) and type III (intermediate phenotype accompanied by mild-mediate neurological attitude). In the presentation of this phenomenon, the patient was presented without any complaints until the age of 5 after seeing and speaking disorders, difficulty walking, urination loss, behavioral problems and attacks. In the examinations sent in the direction of neurometabolic diseases of the patient evaluated with the clinic, the patient with mutation in the NAGA gene was diagnosed with Schindler disease type 3. Although this disease is rare, the distinctive diagnosis should be considered and the necessary genetic advice should be given to the family. 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 categorized into three main phenotypes: Schindler's disease Type I (a neuroaxonal dystrophy with onset in childhood), Type II (mild intellectual impairment with onset in adulthood), and Type III (a 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 disorders, 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 advice. Keywords: Epilepsy; Lysosomal Storage Disease; Schindler Disease

Anahtar Kelimeler: