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Korean J Pediatr 2001 January;44(1) :83-88.
A Case of Xp21 Contiguous Gene Deletion Syndrome with Hyperglycerolemia, Congenital Adrenal Hypoplasia and Duchenne Muscular Dystrophy
Dae-Won Shin (Shin DW)1, Jun Huh (Huh J)1, Hong-Jin Lee (Lee HJ)1, Won-Ill Park (Park WI)1, Kyung-Ja Lee (Lee KJ)1, Yoon-Sook Shin (Shin YS)2, D.R. Sjarif (Sjarif DR)3, B.T. Poll-The (Poll-The BT)3
1Department of Pediatrics, College of Medicine, Hallym University, Chunchon, Korea
2University Children`s Hospital, Munich, Germany
3Department of Pediatrics, Metabolic Diseases, University Medical Center Utrecht, Netherlands
Copyright © 2001 by The Korean Pediatric Society
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.
Keywords: Hyperglycerolemia | Hyperglyceroluria | GKD(Glycerol kinase deficiency) | CAH(Congenital adrenal hypoplasia) | DMD(Duchenne muscular dystrophy)
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A Case of True Precocious Puberty Complicating Congenital Adrenal Hyperplasia  2003 April;46(4)
A Case of 18q-Deletion Syndrome with Hydronephrosis and Anhydrosis  1999 May;45(5)
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