Recurrent anorexia and pigmentation of skin for more than two months in an infant / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 926-929, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-297183
ABSTRACT
A 2-month-old boy presented with adrenal insufficiency, impaired liver function, hypertriglyceridemia, significantly elevated creatine kinase and electrolyte disturbance. Microarray comparative genomic hybridization (aCGH) analysis test showed a pathogenic 8.7 Mb deletion in the short arm of chromosome X (Xp21.3 - p21.1) and confirmed the diagnosis of complex glycerol kinase deficiency (cGKD). He was treated with hydrocortisone, coenzyme Q10 and L-carnitine and was subsequently followed up for 4 years. His serum cortisol levels returned to normal one week later after treatment, but the serum creatine kinase, triglyceride and aminotransferase levels were progressively increased along with mental retardation and decreased muscular strength. cGKD is also named as Xp21 contiguous gene syndrome. The clinical manifestations of this disease include hypertriglyceridemia, congenital adrenal hypoplasia (AHC), Duchenne muscular dystrophy, and mental retardation. This case highlights the necessity to screen the serum triglyceride and creatine kinase levels in infants with suspected adrenal insufficiency.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Recidiva
/
Triglicerídeos
/
Sangue
/
Pigmentação da Pele
/
Anorexia
/
Diagnóstico
/
Tratamento Farmacológico
/
Hibridização Genômica Comparativa
/
Hipoadrenocorticismo Familiar
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2017
Tipo de documento:
Artigo
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