Paroxysmal muscle weakness, liver enlargement, and hypoglycemia in a boy / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 1104-1108, 2017.
Artículo
en Chino
| WPRIM
| ID: wpr-300440
ABSTRACT
A boy aged 11 years was admitted due to intermittent weakness and difficulty in walking for 6 years, and hepatomegaly, glycopenia and unconsciousness for 4 years. The laboratory examinations showed severe metabolic acidosis, hypoglycemia, and abnormal liver function. CT scan showed marked liver enlargement with fat density shadow. The boy was given fluid infusion, correction of acidosis, intravenous injection of glucose, L-carnitine, compound vitamin B, and coenzyme Q10, but he was in a persistent coma and it was difficult to correct refractory metabolic acidosis and hypoglycemia. The boy died. Blood and urinary organic acid screening and gene detection confirmed that the boy had late-onset glutaric aciduria type II (GAIIc) caused by electron-transferring-flavoprotein dehydrogenase (ETFDH) gene defect. GAIIc is an inherited metabolic disease with a low incidence, resulting in a high misdiagnosis rate. GAIIc should be considered for children with recurrent weakness or reduced activity endurance, hypoglycemia, and marked liver enlargement with abnormal liver function. Urinary organic acid analysis and blood tandem mass spectrometry can help with the early diagnosis of GAIIc, and ETFDH gene analysis helps to make a confirmed diagnosis.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Debilidad Muscular
/
Diagnóstico
/
Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa
/
Hepatomegalia
/
Hipoglucemia
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Niño
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2017
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS