A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency / 대한소아소화기영양학회지
Pediatric Gastroenterology, Hepatology & Nutrition
;
: 263-267, 2017.
Artículo
en Inglés
| WPRIM
| ID: wpr-128993
ABSTRACT
Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum liver enzymes and dyslipidemia. Liver biopsy revealed diffuse microvesicular fatty changes in hepatocytes, septal fibrosis and foamy macrophages. Ultrastructural examination demonstrated numerous lysosomes that contained lipid material and intracytoplasmic cholesterol clefts. A dried blood spot test revealed markedly decreased activity of LAL. LIPA gene sequencing identified the presence of a novel homozygous mutation (p.Thr177Ile). The patient's elevated liver enzymes and dyslipidemia improved with enzyme replacement therapy. This is the first report of a Korean child with LAL deficiency, and our findings suggest that this condition should be considered in the differential diagnosis of children with hepatosplenomegaly and dyslipidemia.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Biopsia
/
Fibrosis
/
Enfermedad del Almacenamiento de Glucógeno
/
Colesterol
/
Esterol Esterasa
/
Hepatocitos
/
Diagnóstico Diferencial
/
Dislipidemias
/
Terapia de Reemplazo Enzimático
/
Hepatomegalia
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Niño
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Pediatric Gastroenterology, Hepatology & Nutrition
Año:
2017
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS