Nota Clínica

Contiguous gene deletion syndrome in Xp21: an unusual form of presentation

I. Sanz-Ruiz, J.R. Bretón-Martínez, C. del Castillo-Villaescusa, A. Casanovas-Martínez, F. Martínez-Castellano, J.M. Millán-Salvador, R. Hernández-Marco, P. Codoñer-Franch [REV NEUROL 2009;49:472-474] PMID: 19859888 DOI: OPEN ACCESS
Volumen 49 | Number 09 | Nº of views of the article 6.267 | Nº of PDF downloads 518 | Article publication date 01/11/2009
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ABSTRACT Artículo en español English version
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 A 7-month-old male infant who was referred due to psychomotor retardation. The examination revealed pronounced axial hypotonia. Lab findings showed high levels of muscular enzymes with creatine phosphokinase levels of 12,829 IU/L, together with high blood levels of triglycerides. Electromyogram findings were consistent with myopathic compromise. The genetic study for dystrophinopathies revealed the existence of a deletion in the dystrophin gene. Further lab findings identified high glycerol concentrations both in blood and in urine that were compatible with a glycerol kinase deficiency. The genetic study confirmed the existence of a deletion in Xp21 of the genes responsible for DMD, the glycerol kinase deficiency, the congenital adrenal hypoplasia (gene DAX1) and mental retardation (gene IL1RAPL1).

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.
KeywordsCongenital adrenal insufficiencyContiguous gene syndrome in Xp21Duchenne’s muscular dystrophyGlycerol kinase deficiencyHuman chromosome 21Mental retardation CategoriesNervios periféricos, unión neuromuscular y músculoNeuropediatríaNeuropsiquiatría
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