Ehlers-Danlos Syndrome – an underdiagnosed condition
Failure to thrive is a common clinical presentation discovered during continuity of child care at primary care clinic1. The causes of failure to thrive are multifactorial which a challenge becomes in diagnostic process. Hence, the pitfall arises when there are overlapping causes whereby nutritional...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
2019
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| Subjects: | |
| Online Access: | http://irep.iium.edu.my/73938/1/Dr.%20Mohd%20Aug%20EDS.pdf http://irep.iium.edu.my/73938/ https://scienceforecastoa.com/Articles/JFM-V2-E2-1020.pdf |
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| Summary: | Failure to thrive is a common clinical presentation discovered during continuity of child care at primary care clinic1. The causes of failure to thrive are multifactorial which a challenge becomes in diagnostic process. Hence, the pitfall arises when there are overlapping causes whereby nutritional and psychosocial issues mask the suspicion of medical cause [1]. A well-looking child with failure to thrive is probably considered as normal variants of growth or having nutritional deficiency [2]. We highlighted a case report of a 4 years 9 month-old girl with red flag of failure to thrive who was recently diagnosed to have Ehlers-Danlos Syndrome Hypermobility type based on manifestation of classical signs with a positive Beighton score of eight [3]. She had unresolved failure to thrive after birth despite intervention, with all anthropometric criteria below expected for age and gender. Otherwise, she was asymptomatic and developmentally-age-appropriate. These provide a clue to evaluate for a pathological condition which leads to discovery of this undiagnosed syndrome. Even though there is no cure for Ehlers-Danlos Syndrome, a correct diagnosis helps for appropriate treatment plan to monitor potential complications and provide genetic counselling for the family [3]. |
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