RESUMO
Lyme neuroborreliosis (LNB) is a rare infectious disease, caused by Borrelia burgdorferi spirochetes and responsible for a variety of neurological manifestations. The most common manifestations of LNB in children are cranial nerve involvement, especially facial nerve palsy often accompanied by lymphocytic meningitis. In this article, we present a case of a 4-year-old boy presented to our emergency department with abdominal pain evolving for a week and symmetrical ascending progression of weakness responsible for severe respiratory failure. Diagnosis of Guillain-Barré syndrome (GBS) was initially suspected. Although our patient had received 2 courses (each of 5 days) of Intravenous immunoglobulin (IVG) treatment, no clinical improvement was observed. The diagnosis of LNB was confirmed by detection of both IgG and IgM specific antibodies in serum. The patient's muscle weakness got better after a 2- week course of Ceftriaxone but respiratory muscle failure didn't improve with two extubation failures. Consequently, we decided to conduct plasmapheresis procedures. We managed to extubate the child and discharge him after a good recovery of his symptoms. Pediatricians must consider LNB disease in the differential diagnosis of GBS, especially when the patient didn't recover after IVG treatment. This case shows that plasmapheresis could be effective for pediatric neuroborreliosis cases with severe neurological disorders.
Assuntos
Borrelia burgdorferi , Síndrome de Guillain-Barré , Neuroborreliose de Lyme , Pré-Escolar , Humanos , Masculino , Ceftriaxona/uso terapêutico , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/terapia , Neuroborreliose de Lyme/complicações , Neuroborreliose de Lyme/diagnóstico , Neuroborreliose de Lyme/terapia , Troca Plasmática , PlasmafereseRESUMO
BACKGROUND: Antinuclear antibodies (ANA) test is used to screen adults as well as children for connective tissue diseases (CTD) and autoimmune hepatitis. However, interpretation of ANA positivity can be delicate. AIM: to determine clinical significance and diagnosis utility of ANA positivity in children. METHODS: Patients from a general pediatric department with ANA positive results were included (follow-up period of 2 years). ANA screening was performed by indirect immunofluorescence (IIF) on HEp-2 cells substrate (BioSystems®). In case of ANA positivity (cut-off: 1:80), the specificity was determined by IIF on Crithidia luciliea substrate (BioSystems®) and immunodot (Euroimmun®). RESULTS: Among 102 ANA tests, 55 (53,9%) were positive. We recorded the data of 38 patients (age average: 9,5 years - sex ratio: 0.72). The most frequent signs were join pain (55,3%). ANA titer varied between 1:80 (39,5% of cases) and 1:1280 (2,6% of cases). Typing was negative in 89,5% of cases. The majority (42,1%) of children with positive ANA test had musculoskeletal diseases. The others (57,9%) had systemic lupus erythematosus(n=2), overlap syndrome(n=1), rheumatoid purpura(n=2), idiopathic thrombocytopenic purpura(n=1), coeliac disease(n=1) or non-autoimmune diseases/no confirmed diagnosis(n=15). CONCLUSIONS: ANA prevalence in children was relatively high. When the pretest probability is low, the positive predictive value for CTD or autoimmune hepatitis is low. However, depending on the clinical context, ANA detection can represent a supplement diagnostic tool for these diseases and/or can lead to a clinico-biological monitoring.
Assuntos
Doenças do Tecido Conjuntivo , Hepatite Autoimune , Lúpus Eritematoso Sistêmico , Adulto , Anticorpos Antinucleares , Criança , Doenças do Tecido Conjuntivo/diagnóstico , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Valor Preditivo dos TestesAssuntos
Educação Médica/tendências , Medicina , África do Norte/epidemiologia , Anatomia/educação , Educação Médica/história , Educação Médica/métodos , Educação Médica/organização & administração , História do Século XXI , Humanos , Internato e Residência/normas , Internato e Residência/tendências , Satisfação no Emprego , Medicina/métodos , Medicina/organização & administração , Medicina/tendências , Patologia Clínica/educação , Tunísia/epidemiologiaRESUMO
BACKGROUND: Tuberculosis (TB) is a public health problem worldwide. Characterizing its trends over time is a useful tool for decision-makers to assess the efficiency of TB control programs. We aimed to give an update on the current chronological trends of TB in Southern Tunisia from 1995 to 2016 and to estimate future trajectories of TB epidemic by 2030. METHODS: We retrospectively collected data of all notified TB new cases by the Center of Tuberculosis Control between 1995 and 2016 in South of Tunisia. Joinpoint Regression Analysis was performed to analyze chronological trends and annual percentage changes (APC) were estimated. RESULTS: In the past 22 years, a total of 2771 cases of TB were notified in Southern Tunisia. The annual incidence rate of TB was 13.91/100,000 population/year. There was a rise in all forms of TB incidence (APC = 1.63) and in extrapulmonary tuberculosis (EPTB) (APC = 2.04). The incidence of TB increased in children and adult females between 1995 and 2016 (APC = 4.48 and 2.37, respectively). The annual number of TB declined in urban districts between 2004 and 2016 (APC = -2.85). Lymph node TB cases increased (APC = 4.58), while annual number of urogenital TB decreased between 1995 and 2016 (APC = -3.38). Projected incidence rates would increase to 18.13 and 11.8/100,000 population in 2030 for global TB and EPTB, respectively. CONCLUSIONS: Our study highlighted a rise in all forms of TB and among high-risk groups, notably children, females and lymph node TB patients in the last two decades and up to the next one.
Assuntos
Tuberculose/epidemiologia , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Masculino , Pessoa de Meia-Idade , Mycobacterium tuberculosis/isolamento & purificação , Análise de Regressão , Estudos Retrospectivos , População Rural , Fatores Sexuais , Tuberculose dos Linfonodos/epidemiologia , Tuberculose Pulmonar/epidemiologia , Tunísia/epidemiologia , População Urbana , Adulto JovemAssuntos
Fístula Brônquica/cirurgia , Abscesso Pulmonar/cirurgia , Infecções Respiratórias/cirurgia , Infecções Estafilocócicas/cirurgia , Procedimentos Cirúrgicos Torácicos , Antibacterianos/uso terapêutico , Fístula Brônquica/diagnóstico por imagem , Fístula Brônquica/microbiologia , Criança , Drenagem , Humanos , Abscesso Pulmonar/diagnóstico por imagem , Abscesso Pulmonar/microbiologia , Masculino , Infecções Respiratórias/diagnóstico por imagem , Infecções Respiratórias/microbiologia , Infecções Estafilocócicas/diagnóstico por imagem , Infecções Estafilocócicas/microbiologia , Toracotomia , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
AIM: The aim of the present study was to characterize the molecular basis of complement factor I deficiency in Tunisian atypical haemolytic and uremic syndrome patients with low factor I levels. METHODS: Six adults and seven children were enrolled in this study. Complement factor I levels were assessed by a homemade sandwich ELISA and ranged between 12.5% and 60%. Genomic DNA was amplified by way of a polymerase chain reaction using intronic primers flanking the 13 coding exons. Sequencing of amplified products was carried out by the dye terminator sequencing method. Molecular study was performed on parental samples for three dead paediatric patients. The control group consisted of 100 healthy Tunisian donors. RESULTS: We identified a total of 13 substitutions and one insertion: seven in introns, four in exons and three in UTR. The new mutations were c.-132G > C, c.71 + 181 T > A in 5'UTR and intron 1, respectively. Three intronic polymorphisms were predicted to have impact on splicing events: c.482 + 6C > T, c.884-42_884-41insTTAAA (rs34422850) and c.1429 + 33 A > G (rs9998151). They were three missense mutations leading to a p.Ile 357Met, p.Ile416Leu and p.GLu548Gln. p.Ile 357Met was found in two patients and one relative. Half of the patients had associated mutation and/or polymorphisms. CONCLUSION: This is the first genetic study in Tunisian and Maghrebin atypical haemolytic and uraemic syndrome patients. The high occurrence of Ile357Met mutation may reflect a founding effect. Functional impact of the two new mutations c.-132G > C and c.71 + 181A > T have to be studied. Association of simultaneous genetic abnormalities may explain the variability of atypical haemolytic and uraemic syndrome, penetrance and disease phenotype.
Assuntos
Síndrome Hemolítico-Urêmica Atípica , Complemento C3/deficiência , Fator I do Complemento , Doenças Genéticas Inatas , Adulto , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Síndrome Hemolítico-Urêmica Atípica/epidemiologia , Síndrome Hemolítico-Urêmica Atípica/genética , Criança , Pré-Escolar , Estudos de Coortes , Complemento C3/genética , Fator I do Complemento/análise , Fator I do Complemento/genética , Feminino , Doenças Genéticas Inatas/sangue , Doenças Genéticas Inatas/epidemiologia , Doenças Genéticas Inatas/genética , Doenças da Deficiência Hereditária de Complemento , Humanos , Lactente , Masculino , Mutação , Polimorfismo Genético , Tunísia/epidemiologiaRESUMO
AIM: Post-streptococcal glomerulonephritis (PSGN) is a frequent cause of acute nephritis in children. This study aimed to describe the epidemiology, clinical characteristics and outcomes of PSGN and look for predictor's factors of severity. METHODS: A 12-year retrospective review of case notes and laboratory data was conducted at a department of pediatrics, pediatric emergency and intensive care, Hedi Chaker Hospital. RESULTS: One hundred seventy eight children were treated for PSGN with a mean age of 7.6 ans±3.43 ans. One hundred and forty-two patients (80%) had a history of a recent upper respiratory tract or skin infection. Streptococcal pharyngitis was the most common cause, identified in 113 patients (67.6%). Macroscopic hematuria and edema were noted in 135 (75.8%) and 114 cases (64%) respectively. Hypertension was present in 55 patients (31%). Oliguria was noted in 30 children (16.8%). Sixty-six subjects (37%) developed acute renal impairment (creatinine≥70 micromoles/L). No correlation was demonstrated between acute renal impairment and age, sex, triggering infection, anemia and white blood cell count. Creatinine greater than 56.35 micromoles/L was associated with a high risk of developing high blood pressure. The mean length of admission was 5.8 days±4.44. Only one subject has ongoing renal dysfunction. CONCLUSION: PSGN remains a common nephropathy in our region. The detection and effective treatment of any infection that may be involved can reduce the incidence of this disease.
Assuntos
Glomerulonefrite/epidemiologia , Infecções Estreptocócicas/complicações , Injúria Renal Aguda/epidemiologia , Injúria Renal Aguda/etiologia , Adolescente , Criança , Pré-Escolar , Feminino , Glomerulonefrite/complicações , Glomerulonefrite/etiologia , Humanos , Tempo de Internação/estatística & dados numéricos , Masculino , Prevalência , Estudos Retrospectivos , Streptococcus pyogenes , Tunísia/epidemiologiaRESUMO
In adults, anti-neutrophil cytoplasmic antibodies (ANCA) are considered as serological markers of several diseases, especially vasculitis and glomerulonephritis. Since ANCA are rarely positive in children, few data about the clinical relevance of these auto-antibodies in pediatric population have been reported. Therefore, our study aims to describe the spectrum of disorders associated with positive ANCA in Tunisian children. This study had been carried out over a period of 12 years and a half. All patients under the age of 15 for whom ANCA screening was performed in our laboratory were included. Clinical data were collected retrospectively. Indirect immunofluorescence (IFI) technique for ANCA detection was performed using PNN smears fixed with ethanol, formalin and, if necessary, methanol. Positive results were tested using immunodot to characterize the antigenic targets (myeloperoxydase (MPO) and proteinase 3 (PR3)). Our results showed that 410/5,990 (6.8%) laboratory requests for ANCA screening were for children. Forty (9.7%) requests were positive (24 children). Clinical data were available for 19 patients only. Sex-ratio (F/M) was 1.25. The mean age was 9 years and a half (3-15 years). The most frequent IIF patterns were x-ANCA (n=12) and p-ANCA (n=7). In our patients, the most frequent conditions associated to ANCA were treatment with benzylthiouracil for hypothyroidism (n=6), inflammatory bowel disease (n=4) and hemolytic anemia (n=4). In conclusion, the positivity of ANCA in children seems to be a rare event. Associated conditions include clinical disorders specific to the pediatric population. Treatment with benzylthiouracil is an etiology to be taken into consideration.
Assuntos
Anticorpos Anticitoplasma de Neutrófilos/sangue , Biomarcadores/sangue , Análise Química do Sangue/estatística & dados numéricos , Adolescente , Anemia Hemolítica/sangue , Anemia Hemolítica/diagnóstico , Anemia Hemolítica/epidemiologia , Anticorpos Anticitoplasma de Neutrófilos/análise , Análise Química do Sangue/métodos , Criança , Pré-Escolar , Feminino , Técnica Indireta de Fluorescência para Anticorpo , Glomerulonefrite/sangue , Glomerulonefrite/diagnóstico , Glomerulonefrite/epidemiologia , Humanos , Hipotireoidismo/sangue , Hipotireoidismo/diagnóstico , Hipotireoidismo/tratamento farmacológico , Hipotireoidismo/epidemiologia , Doenças Inflamatórias Intestinais/sangue , Doenças Inflamatórias Intestinais/diagnóstico , Doenças Inflamatórias Intestinais/epidemiologia , Masculino , Prevalência , Estudos Retrospectivos , Estudos Soroepidemiológicos , Tiouracila/efeitos adversos , Tiouracila/análogos & derivados , Tiouracila/uso terapêutico , Vasculite/sangue , Vasculite/diagnóstico , Vasculite/epidemiologiaRESUMO
Mitochondrial disease refers to a heterogeneous group of disorders resulting in defective cellular energy production due to dysfunction of the mitochondrial respiratory chain, which is responsible for the generation of most cellular energy. Because cardiac muscles are one of the high energy demanding tissues, mitochondrial cardiomyopathies is one of the most frequent mitochondria disorders. Mitochondrial cardiomyopathy has been associated with several point mutations of mtDNA in both genes encoded mitochondrial proteins and mitochondrial tRNA and rRNA. We reported here the first description of mutations in MT-ATP6 gene in two patients with clinical features of dilated mitochondrial cardiomyopathy. The mutational analysis of the whole mitochondrial DNA revealed the presence of m.1555A>G mutation in MT-RNR1 gene associated to the m.8527A>G (p.M>V) and the m.8392C>T (p.136P>S) variations in the mitochondrial MT-ATP6 gene in patient1 and his family members with variable phenotype including hearing impairment. The second patient with isolated mitochondrial cardiomyopathy presented the m.8605C>T (p.27P>S) mutation in the MT-ATP6 gene. The three mutations p.M1V, p.P27S and p.P136S detected in MT-ATP6 affected well conserved residues of the mitochondrial protein ATPase 6. In addition, the substitution of proline residue at position 27 and 136 effect hydrophobicity and structure flexibility conformation of the protein.
Assuntos
Cardiomiopatia Dilatada/genética , Perda Auditiva/genética , Mitocôndrias Cardíacas/genética , ATPases Mitocondriais Próton-Translocadoras/genética , Mutação , RNA Ribossômico/genética , Adolescente , Sequência de Aminoácidos , Animais , Genoma Mitocondrial , Humanos , Lactente , Masculino , Homologia de Sequência de AminoácidosRESUMO
BACKGROUND: The end-stage renal disease (ESRD) in children has special features in terms of etiologies, therapeutic modalities and access to renal transplantation. In Tunisia, there are no data on the epidemiology of ESRD in children. The aim of our study was to describe epidemiology of ESRD among Tunisian children. METHODS: This retrospective study was conducted in pediatric departments in Charles-Nicolle Hospital, Tunis and Hedi Chaker hospital, Sfax, during a period of 15 years (1st January 1998-31st December 2013). We included children who develop ESRD before the age of 15 years. RESULTS: In total, 166 patients were included. The median duration of follow-up was 48 months. We collected respectively 24 children (14.5%) aged less than 2 years, 24 children (14.5%) aged between 2 and 6 years and 118 children (71%) older than 6 years. The sex ratio was equal to 1.4. The mean incidence was 4.25 cases per million children. The main causes were represented by congenital anomalies of the kidneys and urinary tract (35.5%), hereditary renal disease (31.3%) and glomerular kidney disease (9.6%). All patients were treated in kidney transplant dialysis programs; the main mode of dialysis was represented by peritoneal dialysis, which represented the initial dialysis mode in 81% of cases. The transition to hemodialysis was noted in 43.4% cases. Thirty-eight patients (22.8%) were transplanted. The mortality rate was 27.1%. The leading cause of death was cardiovascular diseases (37.7%) and infections (22.2%). CONCLUSION: The creation of a national registry of kidney disease in Tunisia is necessary for a better knowledge of needs for dialysis and renal transplantation in children.
Assuntos
Falência Renal Crônica/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Falência Renal Crônica/terapia , Transplante de Rim , Masculino , Diálise Renal , Insuficiência Renal Crônica , Estudos Retrospectivos , Tunísia/epidemiologiaRESUMO
Immunoglobulin class switch recombination deficiencies (Ig-CSR-D) are characterized by normal or elevated serum IgM level and absence of IgG, IgA, and IgE. Most reported cases are due to X-linked CD40L deficiency. Activation-induced cytidine deaminase deficiency is the most frequent autosomal recessive form, whereas CD40 deficiency is more rare. Herein, we present the first North African study on hyper IgM (HIGM) syndrome including 16 Tunisian patients. Phenotypic and genetic studies allowed us to determine their molecular basis. Three CD40LG mutations have been identified including two novels (c.348_351dup and c.782_*2del) and one already reported mutation (g.6182G>A). No mutation has been found in another patient despite the lack of CD40L expression. Interestingly, three AICDA mutations have been identified in 11 patients. Two mutations were novel (c.91T>C and c.389A>C found in one and five patients respectively), and one previously reported splicing mutation (c.156+1T>G) was found in five patients. Only one CD40-deficient patient, bearing a novel mutation (c.109T>G), has been identified. Thus, unlike previous reports, AID deficiency is the most frequent underlying molecular basis (68%) of Ig-CSR-D in Tunisian patients. This finding and the presence of specific recurrent mutations are probably due to the critical role played by inbreeding in North African populations.
Assuntos
Citidina Desaminase/genética , Síndrome de Imunodeficiência com Hiper-IgM/genética , Mutação , Adolescente , Sequência de Bases , Antígenos CD40/genética , Ligante de CD40/genética , Criança , Consanguinidade , Citidina Desaminase/deficiência , Feminino , Genes Recessivos , Humanos , Síndrome de Imunodeficiência com Hiper-IgM/imunologia , Masculino , Dados de Sequência Molecular , Tunísia , Adulto JovemRESUMO
Background - Neonatal lupus erythematosus is an uncommon acquired autoimmune disease caused by transplacental passage of maternal antibodies SSA/Ro, SSB/La or U1 ribonucleoproteins. The most common clinical manifestations are skin rash, cardiac lesions, thrombocytopenia, anemia and hepatosplenomegaly. Complete congenital heart block is usually irreversible needing a pacemaker implantation in two-thirds of cases. Cases report - We report neonatal lupus erythematosus with complete congenital heart block in twins. Newborns were delivered by caesarean section at week 38 of gestation with a heart rate regular at 70 beats per minute. Both twins and mother were positive for antinuclear, anti-SSA, and anti-SSB antibodies. Twins received single-chamber pacemaker implants at day 12 of life. The evolution was immediately favorable with a heart rate around 110 beats per minute. The follow-up was 2 years. The twins are currently asymptomatic. Conclusion - Complete congenital heart block is the most serious manifestation of the neonatal lupus erythematosus associated with significant morbidity and mortality.
Assuntos
Doenças em Gêmeos/complicações , Bloqueio Cardíaco/congênito , Lúpus Eritematoso Sistêmico/congênito , Marca-Passo Artificial , Anticorpos Antinucleares , Cesárea , Doenças em Gêmeos/terapia , Feminino , Bloqueio Cardíaco/complicações , Bloqueio Cardíaco/terapia , Humanos , Recém-Nascido , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/imunologia , GravidezRESUMO
PURPOSE: Primary immunodeficiencies (PIDs) are a large group of diseases characterized by susceptibility to not only recurrent infections but also autoimmune diseases and malignancies. The aim of this study was to describe and analyze the distribution, clinical features and eventual outcome of PID among Tunisian patients. METHODS: We reviewed the record of 710 patients diagnosed with Primary Immunodeficiency Diseases (PIDs) from the registry of the Tunisian Referral Centre for PIDs over a 25-year period. RESULTS: The male-to-female ratio was 1.4. The median age at the onset of symptoms was 6 months and at the time of diagnosis 2 years. The estimated prevalence was 4.3 per 100,000 populations. The consanguinity rate was found in 58.2 % of families. According to the International Union of Immunological Societies classification, spectrums of PIDs were as follows: combined T-cell and B-cell immunodeficiency disorders account for the most common category (28.6 %), followed by congenital defects of phagocyte (25.4 %), other well-defined immunodeficiency syndromes (22.7 %), predominant antibody deficiency diseases (17.7 %), diseases of immune dysregulation (4.8 %), defect of innate immunity (0.4 %) and complement deficiencies (0.4 %). Recurrent infections, particularly lower airway infections (62.3 %), presented the most common manifestation of PID patients. The overall mortality rate was 34.5 %, mainly observed with combined immunodeficiencies. CONCLUSION: The distribution of PIDs was different from that reported in Western countries, with a particularly high proportion of Combined Immunodeficiencies and phagocyte defects in number and/or function. More is needed to improve PID diagnosis and treatment in our country.
Assuntos
Anticorpos/metabolismo , Linfócitos B/fisiologia , Síndromes de Imunodeficiência/epidemiologia , Sistema de Registros , Linfócitos T/fisiologia , Idade de Início , Anticorpos/genética , Proteínas do Sistema Complemento/genética , Consanguinidade , Feminino , Humanos , Síndromes de Imunodeficiência/classificação , Síndromes de Imunodeficiência/mortalidade , Lactente , Masculino , Prevalência , Análise de Sobrevida , TunísiaRESUMO
Hepatic dysfunctions are not infrequent in patients with hyperthyroidism. These disorders may be related to the effects of the excess thyroid hormone secretion, to the uses of antithyroid drugs, or to the presence of concomitant hepatic diseases. Our aim is to describe the clinical and biochemical features of liver dysfunction related to thyrotoxicosis. We report here a case of a 6-year-old girl who was admitted for jaundice and pruritus as a result of the development of hyperthyroidism due to Graves' disease. On physical examination at admission, she was found to have jaundice and hepatomegaly. Laboratory data show cholestasis and protein-losing enteropathy. Investigations exclude other causes of hepatic disorder. One month after the initiation of antithyroid drug, the patient became euthyroid with improvement in jaundice and pruritus and normalization of hepatic tests and alpha antitrypsine clearance. In conclusion, the diagnosis of hyperthyroidism may be delayed in patients in whom the primary manifestations were pruritus and jaundice. The physician should suspect thyrotoxicosis prior to hepatitis or skin manifestations.
Assuntos
Colestase/etiologia , Hipertireoidismo/complicações , Icterícia/etiologia , Enteropatias Perdedoras de Proteínas/etiologia , Prurido/etiologia , Antitireóideos/uso terapêutico , Criança , Feminino , Humanos , Hipertireoidismo/tratamento farmacológico , Resultado do TratamentoRESUMO
AIM: To investigate the previously unknown birth incidence, treatment, and mortality of children with congenital heart disease in Tunisia. METHODS: We undertook a retrospective review of medical records of all patients who were born in 2010 and 2011, and were diagnosed in Sfax (Tunisia) with congenital heart defect. RESULTS: Among 37,294 births, 255 children were detected to have congenital heart disease, yielding a birth incidence of 6.8 per 1000. The most frequently occurring conditions were ventricular septal defects (31%), ostium secundum atrial septal defects (12.9%), and pulmonary valve abnormalities (12%). Coarctation of the aorta, tetralogy of Fallot, univentricular physiology, pulmonary atresia with ventricular septal defect, and transposition of the great arteries were found in 4.3%, 6.2%, 3.4%, 2.7%, and 2.7%, respectively. During the follow-up of 1 year, 23% of the children died. About three-quarters of those deaths happened before surgery. CONCLUSION: The present study is in line with the general estimates in the world. It has revealed a high case of mortality among the patients awaiting corrective surgery. These children need more facilities.