Case Report


DOI :10.5222/j.child.2011.094   IUP :10.5222/j.child.2011.094    Full Text (PDF)

Two Cases of GM2 Gangliosidosis Presented with Loss of Gained Skills

Barış EkiciSeher KoyunMeliha Mine Çalışkan

GM2 gangliosidosis, Sandhoff and Tay-Sachs diseases, are among rare lysosomal storage diseases. There are three clinical forms of the disease: infantile, juvenile, and adult. The infantile form, which has the most severe course is characterized by clinical symptoms emerging between the ages of 6 to 18 months. In this report, two cases presented with loss of acquired skills who were diagnosed as GM2 gangliosidosis at 15 months of age. Loss of gained skills is one of the reasons of referrals to outpatient clinics of pediatric neurology, neurodegenerative diseases should be priorly considered in the differential diagnosis. Cranial imaging techniques, fundus examination and the levels of disease-specific enzymes are helpful diagnostic tools.

DOI :10.5222/j.child.2011.094   IUP :10.5222/j.child.2011.094    Full Text (PDF)

Kazanılmış Becerilerin Kaybı ile Başvuran İki GM2 Gangliosidoz Vakası

Barış EkiciSeher KoyunMeliha Mine Çalışkan

GM2 gangliosidozlar olan Sandhoff ve Tay Sachs hastalığı ender görülen lizozomal depo hastalıklarındandır. Hastalık tablolarında en ağır formu olan sütçocuğu formundan, juvenil ve erişkin forma kadar değişen geniş bir klinik spektrum gözlenir. Hastalığın sütçocuğu formu genellikle 6-18 ay arası ortaya çıkan klinik semptomlarla karakterize olur. Bu makalede, kazanılmış becerilerin kaybı ile başvuran ve farklı GM2 gangliosidoz tanısı konan 15 aylık iki ayrı vakayı sunuyoruz. Kazanılmış becerilerin kaybı çocuk nörolojisi polikliniğine başvuru nedenlerinden biri olup, ayırıcı tanıda öncelikle nörodejeneratif hastalıklar düşünülmelidir. Tanı için kranyal görüntüleme yöntemleri, göz dibi incelemesi ve hastalığa spesifik enzim düzeyi ölçümlerinin birlikte değerlendirilmesi yönlendirici olmaktadır.


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APA

Ekici, B., Koyun, S., & Çalışkan, M.M. (2011). Two Cases of GM2 Gangliosidosis Presented with Loss of Gained Skills. Journal of Child, 11(2), 94-96. https://doi.org/10.5222/j.child.2011.094


AMA

Ekici B, Koyun S, Çalışkan M M. Two Cases of GM2 Gangliosidosis Presented with Loss of Gained Skills. Journal of Child. 2011;11(2):94-96. https://doi.org/10.5222/j.child.2011.094


ABNT

Ekici, B.; Koyun, S.; Çalışkan, M.M. Two Cases of GM2 Gangliosidosis Presented with Loss of Gained Skills. Journal of Child, [Publisher Location], v. 11, n. 2, p. 94-96, 2011.


Chicago: Author-Date Style

Ekici, Barış, and Seher Koyun and Meliha Mine Çalışkan. 2011. “Two Cases of GM2 Gangliosidosis Presented with Loss of Gained Skills.” Journal of Child 11, no. 2: 94-96. https://doi.org/10.5222/j.child.2011.094


Chicago: Humanities Style

Ekici, Barış, and Seher Koyun and Meliha Mine Çalışkan. “Two Cases of GM2 Gangliosidosis Presented with Loss of Gained Skills.” Journal of Child 11, no. 2 (Jun. 2025): 94-96. https://doi.org/10.5222/j.child.2011.094


Harvard: Australian Style

Ekici, B & Koyun, S & Çalışkan, MM 2011, 'Two Cases of GM2 Gangliosidosis Presented with Loss of Gained Skills', Journal of Child, vol. 11, no. 2, pp. 94-96, viewed 3 Jun. 2025, https://doi.org/10.5222/j.child.2011.094


Harvard: Author-Date Style

Ekici, B. and Koyun, S. and Çalışkan, M.M. (2011) ‘Two Cases of GM2 Gangliosidosis Presented with Loss of Gained Skills’, Journal of Child, 11(2), pp. 94-96. https://doi.org/10.5222/j.child.2011.094 (3 Jun. 2025).


MLA

Ekici, Barış, and Seher Koyun and Meliha Mine Çalışkan. “Two Cases of GM2 Gangliosidosis Presented with Loss of Gained Skills.” Journal of Child, vol. 11, no. 2, 2011, pp. 94-96. [Database Container], https://doi.org/10.5222/j.child.2011.094


Vancouver

Ekici B, Koyun S, Çalışkan MM. Two Cases of GM2 Gangliosidosis Presented with Loss of Gained Skills. Journal of Child [Internet]. 3 Jun. 2025 [cited 3 Jun. 2025];11(2):94-96. Available from: https://doi.org/10.5222/j.child.2011.094 doi: 10.5222/j.child.2011.094


ISNAD

Ekici, Barış - Koyun, Seher - Çalışkan, MelihaMine. “Two Cases of GM2 Gangliosidosis Presented with Loss of Gained Skills”. Journal of Child 11/2 (Jun. 2025): 94-96. https://doi.org/10.5222/j.child.2011.094



TIMELINE


Published Online30.12.2011

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