Comment j’explore… une tuberculose abdominale chez l’enfant ?

La tuberculose (TB) fait partie du top 10 des maladies mortelles dans le monde. La TB abdominale est difficile à diagnostiquer car ses symptômes sont insidieux. Les formes les plus fréquentes chez l’enfant sont la TB péritonéale et la TB ganglionnaire. Le diagnostic repose sur l’anamnèse, l’imagerie, la culture microbiologique et l’histologie. La polymerase chain reaction (PCR) confirme le diagnostic plus rapidement que la culture. Le traitement consiste en une quadrithérapie de 2 mois, suivie d’une bithérapie de 4 mois. Cet article décrit les différentes méthodes d’exploration permettant d’étayer le diagnostic de TB abdominale.[How I explore … abdominal tuberculosis in children ?] Tuberculosis (TB) is one of the top 10 causes of death worldwide. Abdominal TB is an uncommon presentation of TB and is challenging to diagnose due to its insidious onset. The most common forms in children are peritonitis and lymphadenitis. Diagnosis is based on radiological and histopathological findings. Specific PCR amplification confirms the diagnosis quicker than conventional cultures. The treatment includes a 6-month therapy and a close follow-up. This article describes the different methods allowing to confirm the diagnosis of abdominal TB

A 7-Year-Old Child With Headaches and Prolonged Fever Associated With Oral and Nail Lesions

A 7-year-old child of Turkish origin presented with headache and vomiting in the context of prolonged fever of unknown source. At examination, oral candidiasis and chronic onychomycosis were noted. A Candida meningoencephalitis was diagnosed and intravenous Amphotericin B liposomal was given during 6 months relayed by oral Fluconazole after regression of CNS lesions was observed on MRI. A complete immune evaluation was performed, and genetic analysis detected homozygous CARD9 mutation. CARD9 deficiency have been associated with invasive candidiasis in otherwise healthy patients. Culture of the cerebrospinal fluid grew for multisensitive Candida albicans. Brain magnetic resonance (MRI) showed the presence of focal lesions in the left caudate nucleus and in the right cerebellar hemisphere. Medullar MRI showed diffuse meningeal nodular lesions. Treatment with intravenous amphotericin B liposomal was given during 6 months relayed by oral fluconazole after regression of CNS lesions was observed on MRI. A complete immune evaluation was performed and genetic analysis detected a homozygous CARD9 mutation. CARD9 deficiency have been associated with invasive candidiasis in otherwise healthy patients

Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both.

Invasive infections of the central nervous system or digestive tract caused by commensal fungi of the genus Candida are rare and life-threatening. The known risk factors include acquired and inherited immunodeficiencies, with patients often displaying a history of multiple infections. Cases of meningo-encephalitis and/or colitis caused by Candida remain unexplained. We studied five previously healthy children and adults with unexplained invasive disease of the central nervous system, or the digestive tract, or both, caused by Candida spp. The patients were aged 39, 7, 17 37, and 26 years at the time of infection and were unrelated but each born to consanguineous parents of Turkish (two patients), Iranian, Moroccan or Pakistani origin. Meningo-encephalitis was isolated in three patients, associated with colitis in a fourth patient, and the fifth patient suffered from isolated colitis. Inherited CARD9 deficiency was recently reported in otherwise healthy patients with other forms of severe disease caused by Candida, Trichophyton, Phialophora, and Exophiala, including meningo-encephalitis, but not colitis, caused by Candida and Exophiala. We therefore sequenced CARD9 in the five patients. All were found to be homozygous for rare and deleterious mutant CARD9 alleles: R70W and Q289* for the three patients with isolated C. albicans meningo-encephalitis, R35Q for the patient with meningo-encephalitis and colitis caused by C. glabrata, and Q295* for the patient with C. albicans colitis. Regardless of their levels of mutant CARD9 protein, the patients’ monocyte-derived dendritic cells responded poorly to CARD9-dependent fungal agonists (curdlan, heat-killed C. albicans, Saccharomyces cerevisiae and Exophiala dermatitidis). Invasive infections of the CNS or digestive tract caused by Candida in previously healthy children and even adults may be caused by inherited CARD9 deficiency