Mucopolysaccharidosis Type 3B in an Adult with Pancytopenia: A Rare Case Report

• Main Authors: Alparslan Merdin, Fatma Avcı Merdin, Mustafa Karaca, Nihal Güzelay
• Format: Article
• Language: English
• Published: Galenos Yayinevi 2014-09-01
• Series: Haseki Tıp Bülteni
• Subjects: Mukopolisakkaridoz Tip 3B; pansitopeni; erişkin yaş; San Flippo Sendromu Tip 3B
• Online Access: http://www.hasekidergisi.com/article_7287/Mucopolysaccharidosis-Type-3b-In-An-Adult-With-Pancytopenia-A-Rare-Case-Report

Mucopolysaccharidoses are rare hereditary lysosomal storage diseases developing due to dysfunction or deficiencies in enzymes that metabolize long-chain carbohydrates and glycosaminoglycans. Patients are normal at birth, but with accumulation of damaged products in the tissues, clinical features begin to appear in early childhood and, generally lose their lives before reaching adulthood. Sanfilippo syndrome B is a mucopolysaccharidosis caused by the deficiency of the lysosomal enzyme alpha-N- acetylglucosaminidase. Herein, we report a very rare case of Sanfilippo syndrome B accompanied by pancytopenia in an 18-year-old female patient who has survived into adulthood. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 232-4)