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Bone Abstracts (2013) 2 P165 | DOI: 10.1530/boneabs.2.P165

ICCBH2013 Poster Presentations (1) (201 abstracts)

Morquio disease in two sisters: clinical case

Liliana Mejia de Beldjenna 1, & Juan Javier Lamoglia 3


1Clinica Valle delLili, Cali, Colombia; 2Fundacion Clinica Infantil Club Noel, Universidad Libre, Cali, Colombia; 3Fundacion Santafe, Bogota, Colombia.


Background: Morquio disease was described by the Uruguayan pediatrician Luis Morquio. It’s a congenital disease caused by a deficiency of the N-acetilgalactosamine 6 sulfatase (MPS IV A) or B galactosidase (MPS IV B) and his frequency is 1/100 000 live births Accumulation of mucopolysacharides in tissues results in short stature, skeletal anomalies (vertebral column deformities), loss of hearing, visual anomalies (corneal opacities), cardiac, hepatic and respiratory problems with a life expectancy of 40 years.

Presenting problems: Two sister with 18 months and 4 years of age, consulting for short stature (>3 S.D. lower for age), bone deformities at 18 months, dolichocefhaly, serrated teeth, thoracic kyphosis, pectum carinatun, globular abdomen, joint thickening and genu valgus and corneal opacities in one. With spinal cord compromise toraxic and atlanto occipital subluxacion with fixing atlanto occcipital. Leukocytes enzymatic activity of galactose 6 sulfate with decreased (Morquio type IV A).

Clinical management: Patient with short stature and skeletal deformities showed be suspected disease Morquio type IV A in this same family, currently in multidisciplinary follow-up. Since other tissue involvement appear later on, a cardiology and ophthalmology evaluation should be done including a bone marrow analysis.

Discussion: Theres is promising results with new enzymatic replacement therapy and management multidisciplinary.

Volume 2

6th International Conference on Children's Bone Health

Rotterdam, The Netherlands
22 Jun 2013 - 25 Jun 2013

ICCBH 

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