Mucopolysaccharidosis with Ocular Manifestations – A Case Report
Keywords:
Mucopolysaccharidosis (MPS), Glycosaminoglycans (GAGs), Polydactyly, a-L-iduronidase EnzymeAbstract
A 13 years old male patient presented with abdominal pain, joint pain and blurring of vision. Systemic examination revealed delayed mile stones, joint deformities, hepatosplenomegaly, broad face, prominent jaw, polydactyly and short stature. Ocular examination revealed visual acuity of 6/24 in both eyes, telecanthus, clouding of cornea with mild diffuse infiltration in stroma & Partial optic atrophy. Urine revealed increased Glycosaminoglycans. Blood testing showed no measurable a-L- iduronidase enzyme activity. Patient was advised enzyme replacement t ameliorate further progress of the disease. Early detection & appropriate management through a multidisciplinary approach is recommended to improve quality of life.
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References
Wraith JE. The mucopolysacchardidoses: a clinical review and guide to management. Arch Dis Child 1995, 72:263-7.
Cimaz R, Coppa GV, Kone – Paut I, et al. Joint contractures in the absence of inflammation may indicate mucopolysacchardidoses. Padiatr Rheumatol Online J2009; 7:18.
Pastores G, Arm P, Beck M, et al. The MPS I registry: desing, methodology, and early findings of a global disease for monitoring patients with mucopolysacchardidoses type I. Mol Genet Metab 2007; 91:37-47
Azevedo AC, Schwarts IV, Kalakun L, et al. Clinical and biochemical study of 28 patients with mucopolysacchardidoses type VI. Clin Genet 2004;66:208-13
Vieira T, Schwartz I, Munoz V, et al. Mucopolysacchardidoses in Brazil: what happens from birth to biochemical diagnosis? Am Med Genet A 2008; 146 A: 1741- 7.
Valayannopolos V, Nicely H, Harmats P, et al. Mucopolysacchardidoses VI. Orphanet J. Rare Dis 2010; 5:5.
Thomas JA, Beck M, Clarke JT, et al Childhood onset of Scheie syndrome, the attenuated from of mucopolysacchardidosis I. J Inherit Metab Dis 2010;33:421-7
Ashworth JL, Biswas S, Wraith E, ET AL mucopolysacchardidoses and the type eye. Surv Ophthalmol 2011; 95:613-9.
Ferrari S, Ponzin D, Ashworth JL, et al. Diagnosis and management of ophthalmological features in patients with mucopolysacchardidoses. Br J Ophthalmol 2011;95:613-9.
Kenyon KR. Ocular manifestations and pathology of systemic mucopolysacchardidoses. Birth Defects Orig Artic Ser 1976 12:133-53.
Couprie J, Denis P, Guffon N, et al. [Ocular manifestation in patients affected by Morquio syndrome (MPS IV). J Fr Ophthalmol 2010;33:617-22.
Ashworth J, Kruse F. Bachmann B. Ocular manifestation in the mucopolysacchardidoses - a review. Clin Experiment Ophthalmol 2010; 38:-12-22
Alroy J, Haskins M, Birk DE, Altered corneal stromal matrix organization is associated with mucopolysacchardidoses I, III and VI. Exp Eye Res 1999; 68:523-30.
Connell P, McCreery K, Doyle A, et al. central corneal thickness and its relationship to intraocular pressure in mucopolysacchardidoses -1 AAPOS 2008; 12: 7 -10.
Kottler U, Demir D, Schmidtmann I, et al. Central corneal thickness in mucopolysacchardidoses II and VI. Cornea 29:260-2.
Collins ML, Traboulsi EI, Maumenee I. Optic nerve head swelling and optic atrophy in the systemic mucopolysacchardidoses Ophthalmology 1999; 97:1445-9
A SHWORTH JL, Biswas S, Wraith E, et al. The ocular features of the mucopolysacchardidoses. Eye 2006; 20:553-63.
Giugliani R, Harmatz P, Wraith JE, Management guidelines for mucopolysacchardidoses. VI. Pediatric 2007; 20:553-63.
Collins ML,Traboulsi EI, Maumenee IH. Optic nerve head swelling and atrophy in the systemic mucopolysacchardidoses. Ophthalmology 1990; 97:1445-9.
Fahnehjelm KT, Tornquist AL, Malm G, et al.Ocular findings in four children with mucopolysacchardidoses I- Hurler (MPS I-H) treated early with haematopoietic stem cell transplantation. Acta Ophthalmol Scand 2006; 84:781-5.
Fahnehjelm KT, Tornquist Al, w INIARSKI j. Ocular axial length and corneal refraction in children with mucopolysacchardidoses (MPS I-Hurler). Acta Ophthalmol 2010. 1755 -3768. 2010.01.
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