LATE DIAGNOSIS OF MUCOPOLYSACCHARIDOSIS TYPE IV (MAROTEAUX–LAMY SYNDROME)-Reference-Cited by-同舟云学术

LATE DIAGNOSIS OF MUCOPOLYSACCHARIDOSIS TYPE IV (MAROTEAUX–LAMY SYNDROME)

Published:2017-09-30 Issue:3 Volume: Page:51-55
ISSN:0869-8678
Container-title:Vestnik travmatologii i ortopedii imeni N.N. Priorova
language:
Short-container-title:Vestn. travmatol. ortop. im. N.N. Priorova

Author:

Mikhailova L. K.¹,Polyakova O. A.¹,Zakharova E. Yu.²,Voskoboeva E. Yu.²,Kuleshov A. A.¹,Vetrile M. S.¹,Lisyanskiy I. N.¹

Affiliation:

1. N.N. Priorov National Medical Research Center of Traumatology and Orthopaedics

2. Research Centre of Medical Genetics, Moscow

Abstract

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.

Publisher

ECO-Vector LLC

Subject

General Medicine

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