J Korean Pediatr Soc.  2001 Jan;44(1):83-88.

A Case of Xp21 Contiguous Gene Deletion Syndrome with Hyperglycerolemia, Congenital Adrenal Hypoplasia and Duchenne Muscular Dystrophy

• Shin DW
• Huh J
• Lee HJ
• Park WI
• Lee KJ
• Shin YS
• Sjarif DR
• Poll-The B

Abstract

On Xp21 region several genes such as adrenal hypoplasia congenita(AHC) gene, glycerol kinase (GK) gene and Duchenne muscular dystrophy(DMD) gene are located contiguously. If there is a long deletion in that region, various combination of genetic defect can be occurred from one kind of genetic defect to all three kinds of genetic defect simultaneously. In case of more than two genetic defects simultaneously, we call it contiguous gene deletion syndrome. The major clinical manifestations of the Xp21 contiguous gene deletion syndrome are sum of each diseases, electrolyte imbalance and hyperpigmentation for adrenal hypoplasia congenita, psychomotor retardation, letharginess and convulsion for glycerol kinase deficiency and muscle weakness and hypotonia for Duchenne muscular dystrophy. Goals of the treatment are control of each disorders, glucocorticoid and mineralocorticoid for adrenal hypoplasia congenita, low fat diet and prevention of fasting and hypercatabolic status for glycerol kinase deficiency and physiotherapy for Duchenne muscular dystrophy. In case of hyponatremia and hyperkalemia combined with hyperpigmentation, adrenal hypoplasia congenita could be suspected. In glycerol kinase deficiency, markedly elevated glycerol excretion can be detected on urine organic acid analysis by gaschromatography with mass spectrometry. On Duchenne muscular dystrophy, creatinine kinase is markedly elevated on chemistry. We report here first Korean case of Xp21 contiguous gene deletion syndrome of adrenal hypoplasia congenita, glycerol kinase deficiency and Duchenne muscular dystrophy.

Keyword

Hyperglycerolemia; Hyperglyceroluria; GKD(Glycerol kinase deficiency); CAH(Congenital adrenal hypoplasia); DMD(Duchenne muscular dystrophy)

MeSH Terms

Chemistry
Creatinine
Diet
Fasting
Gene Deletion*
Glycerol
Glycerol Kinase
Hyperkalemia
Hyperpigmentation
Hyponatremia
Mass Spectrometry
Muscle Hypotonia
Muscle Weakness
Muscular Dystrophy, Duchenne*
Phosphotransferases
Seizures
Creatinine
Glycerol
Glycerol Kinase
Phosphotransferases