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A neonate with contiguous deletion syndrome in XP21.

Abstract

INTRODUCTION
We report a case of a male infant with the association of pseudohypertriglyceridemia, hypoadrenalism (hyponatremia, hyperpotasemia, dehydration), high creatine phosphokinase level (possible Duchenne's muscular dystrophy, DMD) and diagnosed contiguous gene deletion syndrome in Xp21.
CASE REPORT
A 1-month-old male term infant was referred due to no weight gain. The examination revealed dehydration (decreased skin turgor), scrotal hyperpigmentation and hypotonia. Laboratory findings showed hyponatremia of 124 mmol/L, hyperpotasemia of 6.9 mg/dL, high creatine phosphokinase level of 7019 IU/L, and high blood triglyceride level of 1244 mg/dL. There was no deletion detected in the dystrophin gene with the study investigating selected exons, no dystrophin staining and nonspecific atrophic findings in the muscle biopsy. Further laboratory findings defined high glycerol concentrations both in blood and in urine that were compatible with a glycerol kinase deficiency (GKD). Array CGH study confirmed the existence of a deletion in Xp21 of the genes responsible for DMD, GKD and the congenital adrenal hypoplasia (gene DAX1 or NROB1 gene: Xp21.3-21.2). The infant showed good response to mineralocorticoid therapy, hyponatremia resolved and gained weight.
CONCLUSION
Physicians should consider contiguous gene deletion syndrome in Xp21 in the infants with myopathic compromise, increased levels of creatine phosphokinase and pseudohypertriglyceridaemia to be able to prevent and treat the metabolic complications. Furthermore, geneticists should take into account to design routine deletion studies including the promoter region in this disorder.

Authors

Sevim U, Fatma D, Ihsan E, Gulay C, Nevin B

Institution

Ankara Child Disease, Hematology and Oncology Training Hospital - Neonatalogy, Ankara, Turkey. sevimunal@yahoo.com

Source

Journal of pediatric endocrinology & metabolism : JPEM 24:11-12 2011 pg 1095-8

MeSH

Adrenal Insufficiency
Carbohydrate Metabolism, Inborn Errors
Chromosomes, Human, Pair 21
Genetic Diseases, X-Linked
Glycerol Kinase
Humans
Hypertriglyceridemia
Infant, Newborn
Male
Muscular Dystrophy, Duchenne
Syndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22308874