Late Diagnosis of Mucopolysaccharidosis Type IV (Maroteaux-Lamy syndrome) | Zendy

Luydmila K. Mikhailova | Zendy; O. A. Polyakova | Zendy; Ekaterina Zakharova | Zendy; Elena Voskoboeva | Zendy; А. А. Кулешов | Zendy; Marchel S. Vetrile | Zendy; I. N Lisyanskiy | Zendy

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Late Diagnosis of Mucopolysaccharidosis Type IV (Maroteaux-Lamy syndrome)

Author(s) -

Luydmila K. Mikhailova,

O. A. Polyakova,

Ekaterina Zakharova,

Elena Voskoboeva,

А. А. Кулешов,

Marchel S. Vetrile,

I. N Lisyanskiy

Publication year - 2017

Publication title -

n n priorov journal of traumatology and orthopedics

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.

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