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Case Reports

Mucopolysaccharridosis type 1 and the challenges in managing this rare genetic disorder in the resource poor setting

Authors:

A. N. Onyiriuka ,

Lagos University Teaching Hospital, PMB 12003, Lagos, NG
About A. N.
Paediatric Endocrinology Training Centre for West Africa, Department of Paediatrics
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Oduwole A. O.,

University of Lagos, PMB 12003, Lagos, NG
About Oduwole
Department of Paediatrics, Faculty of Clinical Sciences, College of Medicine
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Oyenusi E. E.,

University of Lagos, PMB 12003, Lagos, NG
About Oyenusi
Department of Paediatrics, Faculty of Clinical Sciences, College of Medicine
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I. O. Oluwayemi,

Lagos University Teaching Hospital, PMB 12003, Lagos, NG
About I. O.
Paediatric Endocrinology Training Centre for West Africa, Department of Paediatrics
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Fakeye-Udeogu O. B.,

Lagos University Teaching Hospital, PMB 12003, Lagos, NG
About Fakeye-Udeogu
Paediatric Endocrinology Training Centre for West Africa, Department of Paediatrics
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M. Kouyate,

Lagos University Teaching Hospital, PMB 12003, Lagos, NG
About M.
Paediatric Endocrinology Training Centre for West Africa, Department of Paediatrics
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C. J. Achonwa,

Lagos University Teaching Hospital, PMB 12003, Lagos, NG
About C. J.
Paediatric Endocrinology Training Centre for West Africa, Department of Paediatrics
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M. Abdullahi

Lagos University Teaching Hospital, PMB 12003, Lagos, NG
About M.
Paediatric Endocrinology Training Centre for West Africa, Department of Paediatrics
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Abstract

This case report is about a six-year-old Nigerian boy with a rare genetic disorder of attenuated mucopolysaccharidosis type 1 and the challenges that the clinicians face in managing these patients in resource poor settings. This patient presented with short stature with skeletal deformities, poor speech and intellectual impairment. He also had features such as coarse facial features with macroglossia, lichenified, dry thick skin and hepatosplenomegaly. Delay in the diagnosis is a common problem with this rare genetic disorder. Confirmation of the diagnosis and providing the recommended disease-specific therapeutic options such as of enzyme replacement therapy and haematopoeitic stem cell transplantation are the challenges that we face in managing these patients in the resource poor settings.
How to Cite: Onyiriuka, A.N. et al., (2016). Mucopolysaccharridosis type 1 and the challenges in managing this rare genetic disorder in the resource poor setting. Sri Lanka Journal of Diabetes Endocrinology and Metabolism. 6(1), pp.30–32. DOI: http://doi.org/10.4038/sjdem.v6i1.7303
Published on 23 Feb 2016.
Peer Reviewed

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