eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases
Mucopolysaccharidosis Type IV: Multimedia
Updated: Apr 21, 2009
Multimedia
 | Media file 1: Lateral view of spine in a child aged 8 years and 7 months. This radiograph shows advanced platyspondyly, irregularity, and anterior beaking of vertebral bodies characteristic of dysostosis multiplex. Note also the gibbus deformity and lordosis, which are characteristic of Morquio syndrome. |
 | Media file 2: Cervical spine, flexion and extension views, in a child aged 5 years and 11 months. These flexion and extension images depict anterior and posterior subluxation, respectively, of the atlas secondary to odontoid hypoplasia. |
 | Media file 3: Bilateral lower extremity views in a patient aged 22 years and 6 months. Metaphyseal irregularities and the characteristic genu valgus deformity are easily observed in this image. |
 | Media file 4: Bilateral hand radiographs in a patient aged 22 years and 6 months. Note the tapering of the proximal portion of metacarpals 2 through 5 and small irregular carpal bones. The epiphyseal involvement characteristic of Morquio syndrome is exemplified by the tapered irregular distal radius and ulna. Overall, the bones are osteopenic with cortical thinning. |
 | Media file 5: Upper extremities in a child aged 6 years and 11 months. Note the irregular epiphyses and widened metaphyses. Cortical thinning and mild widening of the diaphysis of the humerus are visible. |
 | Media file 6: Multiple abnormalities are present in the pelvis, including dysplastic femoral heads and oblique acetabular roof with coxa valgus deformity. Flared iliac wings usually observed in Morquio syndrome are not well represented in this radiograph. |
 | Media file 7: Anteroposterior view of the chest in a child aged 8 years and 4 months with Morquio syndrome. To reference the relatively small size of this chest, this patient's vital capacity was 500 cc, but the expected value based on height and weight was 1400 cc. Widened metaphyses and irregular epiphyses of the humeri and generalized platyspondyly are present. Oar-shaped ribs (widening ribs anteriorly and narrowing at the vertebrae) are easily observed and are another key characteristic of dysostosis multiplex. |
 | Media file 8: Defects in keratan sulfate (KS) degradation resulting in Morquio syndrome. |
 | Media file 9: The individual on the front of the scooter is 19 years old and has Morquio syndrome. Her friend on the back is an average-stature 10 year old without Morquio syndrome. On the driver, note the enlargement at the knees and the wrist deformity. Also, note the successful adaptation of the scooter to ambulate. |
 | Media file 10: Note the short trunk and protuberant rib structure in this child with Morquio syndrome. More importantly, notice that Morquio syndrome is not preventing this child from being active and fishing. |
More on Mucopolysaccharidosis Type IV |
| Overview: Mucopolysaccharidosis Type IV |
| Differential Diagnoses & Workup: Mucopolysaccharidosis Type IV |
| Treatment & Medication: Mucopolysaccharidosis Type IV |
| Follow-up: Mucopolysaccharidosis Type IV |
 Multimedia: Mucopolysaccharidosis Type IV |
| References |
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References
Montano AM, Tomatsu S, Gottesman GS, Smith M, Orii T. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis. Apr 2007;30(2):165-74. [Medline].
Tomatsu S, Montano AM, Ohashi A, et al. Enzyme replacement therapy in a murine model of Morquio A syndrome. Hum Mol Genet. Mar 15 2008;17(6):815-24. [Medline].
Montano AM, Tomatsu S, Brusius A, Smith M, Orii T. Growth charts for patients affected with Morquio A disease. Am J Med Genet A. May 15 2008;146A(10):1286-95. [Medline].
Ain MC, Chaichana KL, Schkrohowsky JG. Retrospective study of cervical arthrodesis in patients with various types of skeletal dysplasia. Spine. Mar 15 2006;31(6):E169-74. [Medline].
Tobias JD. Anesthetic care for the child with Morquio syndrome: general versus regional anesthesia. J Clin Anesth. May 1999;11(3):242-6. [Medline].
Institute for Clinical Systems Improvement (ICSI). Immunizations. Bloomington, MN: Institute for Clinical Systems Improvement (ICSI); 2008.
Cunningham M, Cox EO. Hearing assessment in infants and children: recommendations beyond neonatal screening. Pediatrics. Feb 2003;111(2):436-40. [Medline].
Ashworth JL, Biswas S, Wraith E, Lloyd IC. Mucopolysaccharidoses and the eye. Surv Ophthalmol. Jan-Feb 2006;51(1):1-17. [Medline].
Baehner F, Schmiedeskamp C, Krummenauer F, et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis. 2005;28(6):1011-7. [Medline].
Callahan JW. Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. Biochim Biophys Acta. Oct 8 1999;1455(2-3):85-103. [Medline].
Defraia E, Marinelli A, Antonini A, Giuntini V. Abnormal mandibular growth after craniovertebral surgery in Morquio syndrome type A. Angle Orthod. May 2005;75(3):461-4. [Medline].
Factor SM, Biempica L, Goldfischer S. Coronary intimal sclerosis in Morquio's syndrome. Virchows Arch A Pathol Anat Histol. Aug 4 1978;379(1):1-10. [Medline].
Funderburgh JL. Keratan sulfate: structure, biosynthesis, and function. Glycobiology. Oct 2000;10(10):951-8. [Medline].
Hinek A, Zhang S, Smith AC, Callahan JW. Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase. Am J Hum Genet. Jul 2000;67(1):23-36. [Medline]. [Full Text].
Hoffmann B, Mayatepek E. Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities. Neuropediatrics. Oct 2005;36(5):285-9. [Medline].
Holzgreve W, Grobe H, von Figura K, et al. Morquio syndrome: clinical findings in 11 patients with MPS IVA and 2 patients with MPS IVB. Hum Genet. 1981;57(4):360-5. [Medline].
Hoogerbrugge PM, Brouwer OF, Bordigoni P, et al. Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Lancet. Jun 3 1995;345(8962):1398-402. [Medline].
Hopwood JJ, Morris CP. The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment. Mol Biol Med. Oct 1990;7(5):381-404. [Medline].
Laradi S, Tukel T, Khediri S, et al. Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients. Mol Genet Metab. Mar 2006;87(3):213-8. [Medline].
Leslie T, Siddiqui MA, Aitken DA, et al. Morquio syndrome: electron microscopic findings. Br J Ophthalmol. Jul 2005;89(7):925-6. [Medline].
McKusick VA. The nosology of the mucopolysaccharidoses. Am J Med. Nov 1969;47(5):730-47. [Medline].
Meikle PJ, Ranieri E, Simonsen H, et al. Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics. Oct 2004;114(4):909-16. [Medline]. [Full Text].
Millington DS. Newborn screening for lysosomal storage disorders. Clin Chem. May 2005;51(5):808-9. [Medline]. [Full Text].
Natowicz MR, Short MP, Wang Y, et al. Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med. Oct 3 1996;335(14):1029-33. [Medline].
Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet. Dec 1997;101(3):355-8. [Medline].
Neufeld EF. Lysosomal storage diseases. Annu Rev Biochem. 1991;60:257-80. [Medline].
Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, eds. The Metabolic and Molecular Bases of Inherited Disease. 2001. 8th ed. New York, NY: McGraw-Hill, Inc; 3421-52.
Northover H, Cowie RA, Wraith JE. Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review. J Inherit Metab Dis. 1996;19(3):357-65. [Medline].
Resnick D. Osteochondrodysplasias, dysostoses, chromosomal aberrations, mucopolysaccharidoses, mucolipidoses and other skeletal dysplasias. In: Diagnosis of Bone and Joint Disorders V-5. Philadelphia, PA: WB Saunders Co; 1988:3501-7.
Rigante D, Antuzzi D, Ricci R, Segni G. Cervical myelopathy in mucopolysaccharidosis type IV. Clin Neuropathol. Mar-Apr 1999;18(2):84-6. [Medline].
Shinhar SY, Zablocki H, Madgy DN. Airway management in mucopolysaccharide storage disorders. Arch Otolaryngol Head Neck Surg. Feb 2004;130(2):233-7. [Medline].
Sukegawa K, Nakamura H, Kato Z, et al. Biochemical and structural analysis of missense mutations in N- acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. Hum Mol Genet. May 22 2000;9(9):1283-90. [Medline]. [Full Text].
Suzuki Y, Oshima A, Nanba E. Beta-galactosidase deficiency (beta-gGalactosidosis): GM1 gangliosidosis and Morquio B disease. In: Scriver CR, Beaudet AL, Sly WS, eds. The Metabolic and Molecular Basis of Inherieted Disease. 8th ed. Philadelphia, PA: McGraw-Hill, Inc; 2001:3775-809.
Tomatsu S, Gutierrez M, Nishioka T, et al. Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. Hum Mol Genet. Nov 15 2005;14(22):3321-35. [Medline].
Tomatsu S, Montano AM, Nishioka T, et al. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum Mutat. Dec 2005;26(6):500-12. [Medline].
Tomatsu S, Okamura K, Taketani T, et al. Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res. Apr 2004;55(4):592-7. [Medline]. [Full Text].
Tomatsu S, Orii KO, Vogler C, et al. Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. Hum Mol Genet. Dec 15 2003;12(24):3349-58. [Medline].
Tomatsu S, Vogler C, Montano AM, et al. Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. Mol Genet Metab. Jul 2007;91(3):251-8. [Medline].
Ullrich K. Screening for lysosomal disorders. Eur J Pediatr. 1994;153(7 Suppl 1):S38-43. [Medline].
Urban Z, Boyd CD. Elastic-fiber pathologies: primary defects in assembly and secondary disorders in transport and delivery. Am J Hum Genet. Jul 2000;67(1):4-7. [Medline].
Yuen M, Fensom AH. Diagnosis of classical Morquio's disease: N-acetylgalactosamine 6-sulphate sulphatase activity in cultured fibroblasts, leukocytes, amniotic cells and chorionic villi. J Inherit Metab Dis. 1985;8(2):80-6. [Medline].
Further Reading
Keywords
mucopolysaccharidosis type IV, Morquio syndrome, MS, mucopolysaccharidosis type IVA, OMIM 253000, mucopolysaccharidosis type IVB, OMIM 253010, lysosomal storage disease, MPS IVA, MPS IVB, dysostosis multiplex, lysosomal storage disorders, facial coarsening, hepatomegaly, platyspondyly, rib flaring, pectus carinatum, mental retardation, growth failure, skeletal dysplasia, obstructive sleep apnea, short trunk dwarfism, pectus carinatum, kyphosis, gibbus, scoliosis, genu valgus, flaring of the lower ribs, exercise intolerance, treatment, diagnosis
