Candan ÖZOĞUL, Eray DİRİK, Uluç YİŞ, Semra Hız KURUL

Geç infantil nöronal seroid lipofusinoz: Bir olgu sunumu

Nöronal seroid lipofusinozlar, otozomal çekinik kalıtım, epileptik nöbetler, ilerleyici psikomotor bozulma, görme kaybı ve erken ölüm ile belirgin çocukluk çağında en sık görülen nörodejeneratif hastalıklardır. Çocukluk çağında nöronal seroid lipofusinozların en az yedi alt tipi tanımlanmış olup, bunların içinde geç infantil nöronal seroid lipofusinoz genetik olarak en heterojen tipidir. Bu yazıda ilerleyici psikomotor gerilik, ataksi ve epilepsi ile getirilen ve geç infantil nöronal seroid lipofusinoz tanısı alan bir olgu sunulmaktadır. Palmitoyil protein tiyoesteraz aktivitesi çok düşük olup, CLN2 geninde homozigot mutasyon saptanmıştır.

Late infantile neuronal ceroid lipofuscinosis: A case reports

Neuronal ceroid lipofuscinoses are the most common neurodegenerative childhood-onset disorders characterized by autosomal recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual failure, and premature death. At least seven subtypes of childhood-onset neuronal ceroid lipofuscinoses have been identified of which the late-infantile-onset forms are genetically the most heterogeneous. We present a five-year-old girl with late infantile neuronal ceroid lipofuscinosis who presented with progressive psychomotor retardation, ataxia and epilepsia. Palmitoyl protein thioesterase activity was very low and a homozygous mutation was identified in CLN2 gene.

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1. Santavuori P, Lauronen L, Kirveskari E, Aberg L, Sainio K, Autti T. Neuronal ceroid lipofuscinoses in childhood. Neurol Sci 2000; 21: 35-41.
2. Siintola E, Topcu M, Aula N, et al. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet 2007; 81: 136-46.
3. Sinha S, Satishchandra P, Santosh V, Gayatri N, Shankar SK. Neuronal ceroid lipofuscinosis: a clinicopathological study. Seizure 2004; 13: 235-40.
4. Carlen B, Englund E. Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid lipofuscinosis. Ultrastruct Pathol 2001; 25: 285-8.
5. Bercovic SF, Andermann F. Progressive myoclonus epilepsies: Clinical and neurophysiological diagnosis. J Clin Neurophysiol 1991; 8: 261-74.
6. Petersen B, Handwerker M, Huppertz HI. Neuroradiological findings in classical late infantile neuronal ceroidlipofuscinosis. Pediatr Neurol 1996; 5: 344-7.
7. Elleder M, Franc J, Kraus J. Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of NCL Group. Eur J Paediatr Neurol 1997; 4: 109-14.