Hurler’s disease presenting with quadriparesis and short stature
DOI:
https://doi.org/10.18203/2349-3291.ijcp20211687Keywords:
Lysosomal, Glycosaminoglycans, Dysostosis multiplexAbstract
Mucopolysachharidosis are a broad spectrum of rare lysosomal storage disorder caused by deficiency of enzymes responsible for degradation of glycosaminoglycans (GAG), thus leading to accumulation of GAG in various body tissues leading to somatic and neurological manifestations. General phenotype includes coarse facies, corneal clouding, hepatosplenomegaly, dysostosis multiplex etc. Detailed clinical and radiological evaluation and identification of type of GAG excreted in urine narrows the diagnostic possibilities. Definitive diagnosis requires assay of specific enzymes in various tissues. Till date 14 different types of MPS including subtypes are identified. We report a case of 4 years old male child presented with short stature, spastic quadriparesis, bony abnormalities and hepatosplenomegaly without intellectual impairment.
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References
Muenzer J, Wraith JE, Clarke LA. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009;123(1):19-29.
Banikazemi, Maryam. Mucopolysaccharidosis Type I. eMedicine. 2009.
Braunwald E, Fauci AS, Kasper DL, Hauser SL, Longo DL, Jameson JL. Harrison's principles of internal medicine. McGraw Hill. 2001.
Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat. 1995;6:288-302.
Neufeld EF. The mucopolysaccharidoses. The metabolic and molecular bases of inherited disease. 2001;3421-52.
Jurgen W. Spranger. In: Mucopolysachharidoses. Nelson textbook of Paediatrics 21st edition Elsevier publication. 737-743.
Jameson E, Jones S, Remmington T. Enzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type I. Cochrane Database of Systematic Reviews. 2019(6).
Ghai ‘s textbook of Essential pediatrics. 9th edition, chapter 24. 655-656.
Scott HS, Anson DS, Orsborn AM. Human α-L-iduronidase: cDNA isolation and expression. Proc Natl Acad Sci. 1991;88:9695-9699.
Sando GN, Neufeld EF. Recognition and receptor-mediated uptake of a lysosomal enzyme, α-L-iduronidase, by cultured human fibroblasts. Cell. 1977;12:619-627.
Kakkis ED, Matynia A, Jonas AJ, Neufeld EF. Overexpression of the human lysosomal enzyme α-L-iduronidase in Chinese hamster ovary cells. Protein Expr Purif. 1994;5:225-232.