Abstract | INTRODUCTION: We report a case of an infant where the association of Duchenne's muscular dystrophy (DMD) and pseudohypertriglyceridaemia led to the diagnosis of contiguous gene deletion syndrome in Xp21. CASE REPORT: CONCLUSIONS: In infants and small children with myopathic compromise, increased levels of creatine phosphokinase and pseudohypertriglyceridaemia it is essential to take into account contiguous gene deletion syndrome in Xp21 to be able to prevent and treat the metabolic complications arising from adrenal hypoplasia.
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Authors | I Sanz-Ruiz, J R Bretón-Martínez, C Del Castillo-Villaescusa, A Cásanovas-Martínez, F Martínez-Castellano, J M Millán-Salvador, R Hernández-Marco, P Codoñer-Franch |
Journal | Revista de neurologia
(Rev Neurol)
2009 Nov 1-15
Vol. 49
Issue 9
Pg. 472-4
ISSN: 1576-6578 [Electronic] Spain |
Vernacular Title | Síndrome de deleción de genes contiguos en Xp21: una forma inusual de presentación. |
PMID | 19859888
(Publication Type: Case Reports, English Abstract, Journal Article)
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Chemical References |
- DAX-1 Orphan Nuclear Receptor
- DMD protein, human
- Dystrophin
- IL1RAPL1 protein, human
- Interleukin-1 Receptor Accessory Protein
- NR0B1 protein, human
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Topics |
- Child, Preschool
- Chromosomes, Human, Pair 21
(genetics)
- DAX-1 Orphan Nuclear Receptor
(genetics)
- Dystrophin
(genetics)
- Gene Deletion
- Genetic Diseases, X-Linked
(genetics, physiopathology)
- Humans
- Hypertriglyceridemia
(blood, genetics, physiopathology)
- Infant
- Intellectual Disability
(genetics)
- Interleukin-1 Receptor Accessory Protein
(genetics)
- Male
- Muscular Dystrophy, Duchenne
(genetics, physiopathology)
- Syndrome
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