Intracranial mass with the Tay-Sachs diseaseFatih Erbey1, Kenan Özcan1, Özlem Hergüner1, Süreyya Soyupak2, Suzan Zorludemir31Cukurova University School of Medicine, Department of Child Health and Diseases, Adana
2Cukurova University School of Medicine, Department of Radiology, Adana
3Cukurova University Faculty of Medicine, Department of Pathology, Adana
Tay-Sachs disease is accumulation of GM2 ganglioside in neuronal cell lisosomes and, results from the absence of hexosaminidase A enzyme. Affected infants appear normal until approximately 6 months of age. After the first year, irritability, hyperacusis, intellectual retardation, blindness, convulsions, spasticity and opisthotonus may occur. We present, a case of a child who was admitted to our hospital with intracranial mass on clinical and radiological signs and, previously diagnosed as Tay-Sachs disease. Keywords: Tay-Sachs disease, intracranial mass
Tay-Sachs tanılı bir olguda intrakraniyal kitleFatih Erbey1, Kenan Özcan1, Özlem Hergüner1, Süreyya Soyupak2, Suzan Zorludemir31Çukurova Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Adana
2Çukurova Üniversitesi Tıp Fakültesi, Radyodiagnostik Anabilim Dalı, Adana
3Çukurova Üniversitesi Tıp Fakültesi, Patoloji Anabilim Dalı, Adana
Anahtar Kelimeler: Tay-Sachs hastalığı, intrakraniyal kitle
Fatih Erbey, Kenan Özcan, Özlem Hergüner, Süreyya Soyupak, Suzan Zorludemir. Intracranial mass with the Tay-Sachs disease. Medeniyet Med J. 2004; 19(3): 172-174
Corresponding Author: Fatih Erbey, Türkiye |
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