533 Canavan Disease: A Case Report from Kuwait
| Autor: | R Pinto, A Ipe Jhon, HA Bin Nakhi |
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| Rok vydání: | 2012 |
| Předmět: | |
| Zdroj: | Archives of Disease in Childhood. 97:A155-A155 |
| ISSN: | 1468-2044 0003-9888 |
| Popis: | A Kuwaiti female presented at age of three months with macrocephaly, hypotonia, and global developemental delay. She was found to have Cancvan disease. Although Cancvan disease is a rare autosomal recessive neurometabolic disorder which occurs mainly in Ashkanazi Jews, we are reporting this case to highlight that neurometabolic diseases as well as other rare autosomal-recessive disorders affect a relatively large number of patients in countries with high rate of consanguineous marrige like Kuwait and other Gulf areas. We believe that it is high time for molecular cytogenetic studies to be done on Canvan disease and other rare neurometabolic disorders affecting Kuwaiti patients. |
| Databáze: | OpenAIRE |
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