Open AccessLate Diagnosis of Mucopolysaccharidosis Type IV (Maroteaux-Lamy syndrome)
Author(s) -
Л. К. Михайлова,
O. A. Polyakova,
Ekaterina Zakharova,
Elena Voskoboeva,
А. А. Кулешов,
Marchel S. Vetrile,
I. N Lisyanskiy
Publication year - 2017
Publication title -
vestnik travmatologii i ortopedii imeni n.n. priorova
Language(s) - English
Resource type - Journals
eISSN - 2658-6738
pISSN - 0869-8678
DOI - 10.17816/vto201724351-55
Subject(s) - medicine , tetraparesis , myelopathy , disease , pediatrics , mucopolysaccharidosis , osteochondrosis , surgery , pathology , radiology , psychiatry , spinal cord , magnetic resonance imaging
Peculiarities of the clinical manifestation of mucopolysaccharidosis type IV diagnosed at the age of 30 years only are presented. In spite of favorable disease course after the age of 30 years combined vertebral canal stenosis more marked at C0-C1 level, cervical myelopathy and spastic tetraparesis that required surgical intervention. Special attention was paid to the genetic aspects of diagnosis and potential causes of delayed disease development.