Recurrent fever, hepatosplenomegaly and eosinophilia in a boy / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 1145-1149, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-340550
ABSTRACT
A 2-year-old boy was admitted into the hospital because of cough and fever. Lymph node tuberculosis was noted when he was 2 months old and he was subsequently hospitalized several times because of cough and fever. After hospitalization the laboratory examination showed an increased eosinophia level in blood. The immune function tests shows decreased levels of IgG, IgA, and IgM. The patient had no response to anti-tuberculosis, anti-bacterial, and anti-fungal treatment, resulting in recurrent fever and progressive enlargement of the liver and spleen. Jam-like stools were noted 35 days after admission. B ultrasonography showed suspected intussusception. Laparotomy, reduction of intussusception and ileocecum angioplasty, biopsies of intestinal wall nodules and lymphoglandulae mesentericae, and hepatic biopsy were then performed under general anesthesia. The patient eventually died because of postoperative severe liver damage, disseminated intravascular coagulation and electrolyte disorder. Both the blood culture and hepatic biopsy tests showed Penicillium marneffei infecton. Immunodeficiency gene test was performed on the patient, his bother and their parents. T→G base substitution mutation (IVS1-3 T→G) in the CD40L gene was found in the patient. X-linked hyper-IgM syndrome was thus diagnosed in the patient. His mother was a carrier of the mutated CD40L gene, but his father was normal in the gene test. Hemizygous mutation in the CD40L gene was found in both the patient and his bother.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Recidiva
/
Esplenomegalia
/
Ligante de CD40
/
Diagnóstico
/
Eosinofilia
/
Síndrome de Imunodeficiência com Hiper-IgM
/
Febre
/
Genética
/
Hepatomegalia
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança, pré-escolar
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2016
Tipo de documento:
Artigo
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