A case of Thalassaemia Major with Mucopolysaccharidosis
Keywords:
facial dysmorphism, organomegaly, urinary screening
Abstract
We present a case of a male infant, with Thalassaemia Major who also had facial dysmorphism suggestive of Mucopolysaccharidosis, which was detected with a urinary screening test. This is probably the first time that two rare disorders like Thalassaemia Major and Mucopolysaccharidosis have coexisted in the same patient.
References
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2. Talsania S, Talsania N, Nayak H. A Cross Sectional Study Of Thalassemia REFERENCES:In Ahmedabad City, Gujarat (Hospital based). H e a l t h l i n e ISSN
2229-337X.2011; 2 (1):48-51.
3. Colah R, Gorakshakar A, Phanasgaonkar S, D’Souza E, Nadkarni A, Surve R, Sawant P, Master D, Patel R, Ghosh K, Mohanty D. Epidemiology of beta- halassaemia in Western India: mapping the frequencies and mutations in sub-regions of Maharashtra and Gujarat. Br J Haematol. 2010 Jun;149(5):739-47.
4. Orphanet Report Series - Prevalence of rare diseases: 2011;11( 1). Available from: URL: http://www.orpha. net/orphacom/cahiers/docs/GB/Prevalence_of_rare_
diseases_ by_alphabetical_list.pdf. Accessed March 18, 2012.
5. Randaccio M, Patrucco R, Lanteri C. Cooley’s Anaemia in Association with Mucopolysaccharidosis (Type IV) and Enchondromatosis Respectively. Pediatr Radio.
1980;9:27-30.
6. Behera B, Jena DK, Chhetia R, Vijayashree J. Hurler syndrome with a tuft of hair. Indian J Dermatol Venereol Leprol. 2006;72:147-9.
Published
2019-09-03
How to Cite
Dr Supriya Phanse. (2019). A case of Thalassaemia Major with Mucopolysaccharidosis. The Indian Practitioner, 68(1), 42-43. Retrieved from https://articles.theindianpractitioner.com/index.php/tip/article/view/693
Section
Case Reports
