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

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.

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About the authors

Luydmila K. Mikhailova

N.N. Priorov National Medical research center of traumatology and orthopaedics

Email: cito-uchsovet1@mail.ru
Moscow, Russia
Dr. med. sci., N.N. Priorov National Medical Research Center of Traumatology and Orthopaedics

O. A Polyakova

N.N. Priorov National Medical research center of traumatology and orthopaedics

Moscow, Russia

E. Yu Zakharova

Research centre of Medical genetics

Moscow, Russia

E. Yu Voskoboeva

Research centre of Medical genetics

Moscow, Russia

A. A Kuleshov

N.N. Priorov National Medical research center of traumatology and orthopaedics

Moscow, Russia

M. S Vetrile

N.N. Priorov National Medical research center of traumatology and orthopaedics

Moscow, Russia

I. N Lisyanskiy

N.N. Priorov National Medical research center of traumatology and orthopaedics

Moscow, Russia

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Copyright (c) 2017 Mikhailova L.K., Polyakova O.A., Zakharova E.Y., Voskoboeva E.Y., Kuleshov A.A., Vetrile M.S., Lisyanskiy I.N.

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