Hitay İnan, A;
Şeker Yılmaz, B;
Bulut, FD;
Kılavuz, S;
Kor, D;
Karakaş, M;
Önenli Mungan, HN;
(2021)
Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign.
The Journal of Pediatric Research
, 8
(2)
pp. 206-208.
10.4274/jpr.galenos.2020.82621.
Preview |
Text
JPR-8-206-En.pdf - Published Version Download (655kB) | Preview |
Abstract
Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly. With decreased iduronate-2-sulfatase activity and hemizygous mutation in the IDS gene, the diagnosis was MPS-II. Pebbling sign is a rare but pathognomonic sign of MPS-II.
Archive Staff Only
 |
View Item |
