An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria
| Autor: | Bernard Guillois, J F Duhamel, Nimubona L, M.-H. Read, Rolland Mo, D Laloum |
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| Rok vydání: | 2007 |
| Předmět: |
medicine.medical_specialty
Pediatrics Mevalonate kinase deficiency biology business.industry Mevalonate kinase General Medicine Disease medicine.disease Pathophysiology Surgery Bowel obstruction Mevalonic aciduria Pediatrics Perinatology and Child Health Failure to thrive Occlusion medicine biology.protein medicine.symptom business |
| Zdroj: | Acta Paediatrica. 91:714-716 |
| ISSN: | 0803-5253 |
| Popis: | Nimuhona L, Laloum D, Rolland M-O, Read M-H. Guillois B, Duhamel JF. An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria. This report describes a case of mevalonate kinase deficiency diagnosed at I mo of age. Soon after delivery, symptoms were suggestive of congenital infection. An intestinal occlusion occurred towards the age of 8 mo. Conclusion: Mevalonate kinase deficiency has variable clinical and biological signs which can lead to a delay in diagnosis This is the first reported occurrence of bowel obstruction in this disease and the resemblance to a congenital infection in the neonatal period must be emphasized. |
| Databáze: | OpenAIRE |
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