Morquio syndrome


From Wikipedia, the free encyclopedia

ICD10 = | ICD9 = | ICDO = | OMIM = 253000 | OMIM_mult = | MedlinePlus = 001206 | eMedicineSubj = ped | eMedicineTopic = 1477 | MeshID = D009085 |Morquio syndrome (referred to as mucopolysaccharidosis IV or Morquio) is a mucopolysaccharide storage disease (see also lysosomal storage disorder), usually inherited. It is a relatively rare dwarfism with serious consequences. Comes from parents that produce one gene of it, even normal healthy parents. When the body cannot process certain types of mucopolysaccharides, they build up or are eliminated, causing various symptoms.

Types

Two forms are recognized, type A and type B.
  • Type A is a deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase.
  • Type B is a deficiency of the enzyme beta-galactosidase.
  • History

    The condition was first described, simultaneously and independently, in 1929, by Luis Morquio in Montevideo, Uruguay, and by James Frederick Brailsford in Birmingham, England. They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate. Morquio observed the disorder in 4 siblings in a family of Swedish extraction and reported his observations in French.

    Symptoms

    The following symptoms are associated with Morquio syndrome:
  • Abnormal heart development
  • Abnormal skeletal development
  • Hypermobile joints
  • Large fingers
  • Knock-knees
  • Widely spaced teeth
  • Coarse facial features
  • Large head
  • Bell shaped chest (ribs flared)
  • Compression of spinal cord
  • Death (When heart is too big for body)
  • Dwarfism ( when a person is very small)
  • Laboratory diagnosis

    As most mucopolysaccharidoses, Morquio syndrome exhibits alterations in white blood cells that are diagnostic, and might allow for screening procedures and cost-effective differential diagnosis in the future. These anomalies can be best studied with Wright stain, the routine dye employed in hematology laboratory. Neutrophils in Morquio's syndrome exhibit persistence of the azurophilia in its granules, which is explained by the deficient enzyme's inability to clear them from mucopolysaccharides used as a tags in the cells vesicular sorting system. Approximately 70 percent of the neutrophils exhibit this subtle alteration. Differential diagnosis must be made with mucopolisaccharidoses I,II,III,VI and VII. Nonetheless, after this screening procedure has been carried on, quantitative enzyme determination assays must be conducted to verify the diagnosis, should any replacement treatment is available.

    Complications

    Complications that may develop include:
  • Heart failure
  • Difficulty with vision
  • Walking problems related to abnormal curvature of the spine
  • Abnormal neck bones can cause spinal cord damage that can cause severe disease including paralysis if not caught early -- spinal fusion can prevent this
  • Problems with urination



  • Next Page


    This article is based on an article from Wikipedia, the free encyclopedia and is available under the terms of GNU Free Documentation License.
    In the Wikipedia there is a list with all authors of this article available.