Utility of the QuantiFERON-TB Gold In-Tube assay for the diagnosis of tuberculosis in Moroccan children.

SETTING: The utility of interferon-gamma release assays (IGRAs), such as the QuantiFERON-TB Gold In-Tube (QFT-GIT) test, in diagnosing active tuberculosis (TB) in children is unclear and depends on the epidemiological setting. OBJECTIVE: To evaluate the performance of QFT-GIT for TB diagnosis in children living in Morocco, an intermediate TB incidence country with high bacille Calmette-Gurin vaccination coverage. DESIGN: We prospectively recruited 109 Moroccan children hospitalised for clinically suspected TB, all of whom were tested using QFT-GIT. RESULTS: For 81 of the 109 children, the final diagnosis was TB. The remaining 28 children did not have TB. QFT-GIT had a sensitivity of 66% (95%CI 5277) for the diagnosis of TB, and a specificity of 100% (95%CI 88100). The tuberculin skin test (TST) had lower sensitivity, at 46% (95%CI 3360), and its concordance with QFT-GIT was limited (69%). Combining QFT-GIT and TST results increased sensitivity to 83% (95%CI 6992). CONCLUSION: In epidemiological settings such as those found in Morocco, QFT-GIT is more sensitive than the TST for active TB diagnosis in children. Combining the TST and QFT-GIT would be useful for the diagnosis of active TB in children, in combination with clinical, radiological and laboratory data.

[Guillain-Barré syndrome with preserved reflexes]. / Syndrome de Guillain-Barré à reflexes conservés.

Guillain-Barré is a rare, autoimmune disease of the peripheral nervous system. It can affect all ages beginning in the intrauterine or neonatal period. Clinical forms are diverse and include acute motor axonal neuropathy (AMAN). We report on a pediatric case of AMAN. A 2.5-year-old child presented with acute flaccid paralysis and preserved reflexes. Etiologic investigations argued in favor of Guillain-Barré syndrome in its AMAN form. Treatment based on IV immunoglobulins resulted in a total decline of paralysis and motor recovery. The AMAN form of Guillain-Barré syndrome should be considered as a potential diagnosis in all cases of acute flaccid paralysis with preserved reflexes.

First report on the Moroccan registry of primary immunodeficiencies: 15 years of experience (1998-2012).

PURPOSE: Primary immunodeficiencies (PIDs) are a large group of diseases characterized by susceptibility to infections. We provide the first comprehensive report on PIDs in Morocco, the epidemiological, clinical, etiological and outcome features which have never before been described. METHODS: A national registry was established in 2008, grouping together data for PID patients diagnosed since 1998. RESULTS: In total, 421 patients were diagnosed between 1998 and 2012. Parental consanguinity was common (recorded for 43.2 % of patients) and the median time to diagnosis was 2.0 years. Overall, 27.4 % of patients were considered to have well defined syndromes with immunodeficiency (48 cases of hyper-IgE syndrome and 40 of ataxia-telangiectasia); 22.7 % had predominantly antibody deficiencies (29 cases of agammaglobulinemia and 24 of CVID); 20.6 % had combined immunodeficiencies (37 cases of SCID and 26 of MHC II deficiencies) and 17.5 % had phagocyte disorders (14 cases of SCN and 10 of CGD). The principal clinical signs were lower respiratory tract infections (60.8 %), skin infections (33.5 %) and candidiasis (26.1 %). Mortality reached 28.8 %, and only ten patients underwent bone marrow transplantation. We analyzed the impact on mortality of residence, family history, parental consanguinity, date of diagnosis and time to diagnosis, but only date of diagnosis had a significant effect. CONCLUSIONS: The observed prevalence of PID was 0.81/100,000 inhabitants, suggesting considerable underdiagnosis and a need to increase awareness of these conditions in Morocco. The distribution of PIDs was different from that reported in Western countries, with a particularly high proportion of SCID, MHC II deficiencies, hyper-IgE syndrome and autosomal recessive agammaglobulinemia. However, we have now organized a national network, which should improve diagnosis rates in remote regions.

Molecular defects in Moroccan patients with ataxia-telangiectasia.

Ataxia-telangiectasia (AT) is a rare autosomal recessive disease, affecting neurologic and immune system. Numerous mutations are described in the ATM gene in several populations. However, in Morocco, few data are available concerning this condition. Our main goal is to determine clinical, immunological, and molecular presentation of Moroccan patients with AT. We screened 27 patients, out of 22 unrelated families, for ATM gene mutations. All our patients showed ataxia, ocular telangiectasia, and immunodeficiency, as well as elevated serum alphafetoprotein levels. Mean age at diagnosis was 5.51 years, and consanguinity rate was 81.8 %. Mean age at onset was 2.02 years, and mean time to diagnosis was 3.68 years. We found 14 different mutations in 19 unrelated families, of which 7 were not reported. Our results showed that c.5644C>T mutation was the most common in our series. However, further studies are required to demonstrate a founder effects on ATM gene in Moroccan patients, who showed mutational heterogeneity otherwise. Our data indicate that direct sequencing of coding exons is sufficient for a high detection rate in ATM in Moroccan population.

[Rhinofacial mucormycosis: A case report]. / Mucormycose rhinofaciale : à propos d'un cas.

INTRODUCTION: Mucormycosis is the third among deep fungal opportunistic infections after candidiasis and aspergillosis. It is a rare fungal infection in children, but often fatal, which occurs in immunocompromised patients. It is caused by fungi belonging to the order of mucorales. It causes extensive damage and decaying soft parts. The authors report the case of a sinonasal mucormycosis with fatal outcome in a child suffering from hemophagocytic syndrome. REPORT: PL, aged 23 months, resulting from non-consanguineous parents, hospitalized for management of hemophagocytic syndrome lasting for 2 months suspected on clinical and biological data. This diagnosis was confirmed on histology. The etiological diagnosis was negative. A broad-spectrum antibiotics and corticosteroids was introduced. A month later, the patient developed necrotic lesions in the nose and facing the right maxillary sinus. CT scan of facial mass objectived ethmoïdomaxillary bilateral sinusitis. The mycological examination of a nasal swab showed the presence of non-compartmentalized hyphae, culture on Sabouraud chloramphenicol medium without actidione at 37°C isolated Absidia corymbifera. Treatment with amphotericin B was initiated but not tolerated. The negative trend was rapidly leading to death. CONCLUSION: Rhinocerebral mucormycosis is a rare fungal infection in children, we must know how to keep it in mind. The mycological examination and/or histology of a local levy allows rapid diagnosis. Treatment should be initiated urgently to improve the prognosis.