Síndrome de deleción de genes contiguos en Xp21: una forma inusual de presentación / Delection syndrome In Xp21: An unusual form of presentation

Introducción. Describimos el caso de un lactante en el que la asociación de distrofia muscular de Duchenne (DMD) yuna pseudohipertrigliceridemia condujeron al diagnóstico de un síndrome de deleción de genes contiguos en Xp21. Caso clínico.Niño de 7 meses de edad remitido por retraso psicomotor. En la exploración destacaba una hipotonía axial marcada. Laanalítica mostró una elevación de las enzimas musculares con niveles de creatinfosfocinasa de 12.829 UI/L, junto con cifraselevadas de triglicéridos en sangre. Los hallazgos del electromiograma fueron compatibles con afectación miopática. El estudiogenético de distrofinopatías mostró la existencia de una deleción en el gen de la distrofina. La analítica ampliada identificóconcentraciones elevadas de glicerol tanto en sangre como en orina, compatibles con un déficit de glicerolcinasa. El estudiogenético confirmó la existencia de una deleción en Xp21 de los genes responsables de la DMD, del déficit de glicerolcinasa,de la hipoplasia suprarrenal congénita (gen DAX1) y del retraso mental (gen IL1RAPL1). Conclusiones. En lactantes y niñospequeños con afectación miopática, la elevación de las cifras de creatinfosfocinasa y pseudohipertrigliceridemia debeconsiderarse el síndrome de deleción de genes contiguos en Xp21 para prevenir y tratar las complicaciones metabólicas derivadasde la hipoplasia suprarrenal (AU)

Introduction. We report a case of an infant where the association of Duchenne’s muscular dystrophy (DMD) andpseudohypertriglyceridaemia led to the diagnosis of contiguous gene deletion syndrome in Xp21. Case report. A 7-month-oldmale infant who was referred due to psychomotor retardation. The examination revealed pronounced axial hypotonia. Labfindings showed high levels of muscular enzymes with creatine phosphokinase levels of 12,829 IU/L, together with high bloodlevels of triglycerides. Electromyogram findings were consistent with myopathic compromise. The genetic study for dystrophinopathiesrevealed the existence of a deletion in the dystrophin gene. Further lab findings identified high glycerol concentrationsboth in blood and in urine that were compatible with a glycerol kinase deficiency. The genetic study confirmed the existence ofa deletion in Xp21 of the genes responsible for DMD, the glycerol kinase deficiency, the congenital adrenal hypoplasia (geneDAX1) 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 contiguousgene deletion syndrome in Xp21 to be able to prevent and treat the metabolic complications arising from adrenal hypoplasia (AU)

[Contiguous gene deletion syndrome in Xp21: an unusual form of presentation]. / Síndrome de deleción de genes contiguos en Xp21: una forma inusual de presentación.

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.