RESUMO
Wolman disease is an ultrarare lysosomal storage disease caused by a mutation in the LIPA gene. The clinical features of Wolman disease include early onset of vomiting, diarrhea, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification. We report the case of a 3-month-old infant who presented clinical features of hemophagocytic lymphohistiocytosis. Genetic sequence analysis of the LIPA gene revealed homozygous mutation c.153 C>A (p.Tyr51*). The parents were heterozygous for this mutation. Prenatal diagnosis has been carried out in the next pregnancy. To our knowledge, this mutation has never been reported before, and this is an unusual case of secondary hemophagocytic lymphohistiocytosis complicating Wolman disease.
Assuntos
Linfo-Histiocitose Hemofagocítica/etiologia , Mutação , Doença de Wolman/complicações , Diagnóstico Diferencial , Feminino , Homozigoto , Humanos , Lactente , Linfo-Histiocitose Hemofagocítica/diagnóstico , Diagnóstico Pré-Natal , Análise de Sequência de DNA , Esterol Esterase/genética , Tunísia , Doença de Wolman/diagnóstico , Doença de Wolman/genéticaRESUMO
Circumferential skin creases Kunze type (CSC-KT) is a specific congenital entity with an unknown genetic cause. The disease phenotype comprises characteristic circumferential skin creases accompanied by intellectual disability, a cleft palate, short stature, and dysmorphic features. Here, we report that mutations in either MAPRE2 or TUBB underlie the genetic origin of this syndrome. MAPRE2 encodes a member of the microtubule end-binding family of proteins that bind to the guanosine triphosphate cap at growing microtubule plus ends, and TUBB encodes a ß-tubulin isotype that is expressed abundantly in the developing brain. Functional analyses of the TUBB mutants show multiple defects in the chaperone-dependent tubulin heterodimer folding and assembly pathway that leads to a compromised yield of native heterodimers. The TUBB mutations also have an impact on microtubule dynamics. For MAPRE2, we show that the mutations result in enhanced MAPRE2 binding to microtubules, implying an increased dwell time at microtubule plus ends. Further, in vivo analysis of MAPRE2 mutations in a zebrafish model of craniofacial development shows that the variants most likely perturb the patterning of branchial arches, either through excessive activity (under a recessive paradigm) or through haploinsufficiency (dominant de novo paradigm). Taken together, our data add CSC-KT to the growing list of tubulinopathies and highlight how multiple inheritance paradigms can affect dosage-sensitive biological systems so as to result in the same clinical defect.
Assuntos
Encéfalo/metabolismo , Cútis Laxa/congênito , Hamartoma/genética , Proteínas Associadas aos Microtúbulos/genética , Microtúbulos/genética , Mutação , Anormalidades da Pele/genética , Pele/metabolismo , Tubulina (Proteína)/genética , Adolescente , Animais , Encéfalo/crescimento & desenvolvimento , Encéfalo/patologia , Criança , Cútis Laxa/genética , Cútis Laxa/metabolismo , Cútis Laxa/patologia , Feminino , Dosagem de Genes , Regulação da Expressão Gênica no Desenvolvimento , Genes Recessivos , Hamartoma/metabolismo , Hamartoma/patologia , Haploinsuficiência , Humanos , Lactente , Padrões de Herança , Masculino , Proteínas Associadas aos Microtúbulos/metabolismo , Microtúbulos/metabolismo , Microtúbulos/patologia , Dobramento de Proteína , Multimerização Proteica , Pele/crescimento & desenvolvimento , Pele/patologia , Anormalidades da Pele/metabolismo , Anormalidades da Pele/patologia , Tubulina (Proteína)/metabolismo , Adulto Jovem , Peixe-ZebraRESUMO
BACKGROUND: Influenza A (H1N1) is a contagious acute respiratory infection caused a pandemic in 2009. The outcome was variable among populations. AIM: To describe a clinical spectrum and the outcome of Tunisian children with pandemic H1N1/09 influenza virus. METHODS: This is a retrospective, descriptive study of children with pandemic H1N1/09 influenza virus hospitalized in the children's hospital of tunis, between November 2009 and February 2010. The diagnosis was made on positive rapid test or PCR. RESULTS: thirty two children were included. The median age was 12 months. The most frequently symptoms were: fever (87,5%), digestive disorders ( 59,4%) and dyspnea (15,6%). The mean length of stay was 3,8 days. The outcome was complicated by a bacterial infection (56,3%), and one death. CONCLUSION: Mild form of H1N1/influenza virus is the most common presentation; however severe forms can be observed especially in infants.
Assuntos
Vírus da Influenza A Subtipo H1N1/isolamento & purificação , Influenza Humana/epidemiologia , Pandemias , Infecções Bacterianas/etiologia , Criança , Pré-Escolar , Dispneia/epidemiologia , Dispneia/etiologia , Feminino , Febre/epidemiologia , Febre/etiologia , Hospitais Pediátricos , Humanos , Lactente , Influenza Humana/complicações , Influenza Humana/diagnóstico , Tempo de Internação , Masculino , Reação em Cadeia da Polimerase , Estudos Retrospectivos , Tunísia/epidemiologiaRESUMO
Background Community-acquired pleuropneumonia (CPP) is a common complication of pneumonia in children. It is serious given its high morbidity and significant mortality. Aim To study clinical and paraclinical features of CPP in children and to establish a common therapeutic strategy. Methods Our retrospective study included patients who were hospitalized for CPP between 2004 and 2012. All data were collected from patients' medical files. Statistical analysis was made by Epi-Info 6. Results One hundred and sixty four patients were registered. The mean age was 32 months (15 days - 14.5 years). The hospital incidence of CPP doubled between 2004 and 2012. The symptomatology was dominated by fever (93.9%), cough (56.7%) and dyspnea (48.1%). The pleural effusion was frequently moderately abundant and loculated. Pleural sample, performed in 53.6% of cases, was the most beneficial bacteriological examination (p=10-6 ). The bacteriological confirmation was attained in 44.5% of cases with the predominance of Staphylococcus aureus (59%) followed by Streptococcus pneumoniae (26%). The S. aureus occurred basically in most young infants (p=0.04) and was responsible for the most severe cases (p=0.01). The CPP management included heterogeneous intravenous antibiotics associated with a pleural drainage in 40% of cases. The quarter of our patients were transferred to an intensive care unit. Six patients died. Conclusion The bacteriological confirmation is difficult. Pleural aspiration is the key tool. S. aureus is the first microorganism followed by S. pneumoniae. A therapeutic strategy is proposed based on large spectrum intravenous antibiotics. The pleural drainage indication is limited.
Assuntos
Infecções Comunitárias Adquiridas/epidemiologia , Derrame Pleural/epidemiologia , Pleuropneumonia/epidemiologia , Adolescente , Animais , Antibacterianos/uso terapêutico , Criança , Pré-Escolar , Infecções Comunitárias Adquiridas/microbiologia , Infecções Comunitárias Adquiridas/terapia , Tosse/epidemiologia , Tosse/etiologia , Drenagem/métodos , Dispneia/epidemiologia , Dispneia/etiologia , Feminino , Febre/epidemiologia , Febre/etiologia , Humanos , Lactente , Recém-Nascido , Masculino , Derrame Pleural/microbiologia , Derrame Pleural/terapia , Pleuropneumonia/microbiologia , Pleuropneumonia/terapia , Estudos RetrospectivosRESUMO
BACKGROUND: Bronchiolitis is a public health problem in the word and in Tunisia. Nebulized hypertonic saline seems to have some benefits in bronchiolitis. The aim of this study is to evaluate the efficacy of nebulized 5% hypertonic saline alone or mixed with epinephrine in bronchiolitis as measured by improvement in clinical score, oxygen saturation or reduction in duration of hospitalization. METHODS: This prospective, double blind, placebo controlled, randomized clinical trial was performed at Children's Hospital of Tunis from February 2012 to Mars 2012. A total of 94 patients less than 12 months of age with diagnosis of moderately severe bronchiolitis were enrolled and assigned to receive 5% nebulized hypertonic saline, mixed 5% hypertonic saline with standard epinephrine 0,1% or normal saline (placebo) at admission and every 4 hours during hospitalization. RESULTS: There were no significant difference between nebulized 5% hypertonic saline, mixed 5% hypertonic saline with epinephrine or normal saline at baseline, T30 min, T60 min, and T120 min after start study in Wang severity score, oxygen saturation in room air, rate respiratory and heart rate. There was no difference in duration of hospitalization. CONCLUSION: Nebulized 5% hypertonic saline or mixed 5% hypertonic saline with epinephrine are safety but does not appear effective in treating moderately ill infants with the first acute bronchiolitis.
Assuntos
Bronquiolite/tratamento farmacológico , Epinefrina/administração & dosagem , Nebulizadores e Vaporizadores , Solução Salina Hipertônica/administração & dosagem , Administração por Inalação , Bronquiolite/epidemiologia , Relação Dose-Resposta a Droga , Epinefrina/efeitos adversos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Solução Salina Hipertônica/efeitos adversos , Tunísia/epidemiologiaRESUMO
BACKGROUND: Acute bronchiolitis management involves all pediatricians and primary care physicians. The national guidelines for bronchiolitis diagnosis and treatment were published in Tunisia to reduce excessive use of diagnostic tests and unify bronchiolitis management. OBJECTIVES: We aimed to assess the real impact of the national guidelines on acute bronchiolitis management in Tunisia. METHODS: We conducted an evaluative cross-sectional study. We randomly distributed anonymous questionnaires to physicians managing acute bronchiolitis during the period from 1st March 2014 to 30 November 2015. RESULTS: We analyzed 140 questionnaires. Ninety-three interviewed physicians (66.4%) were advised of the latest national guidelines, half of them (33.6%) declared they didn't follow these guidelines. Real and complete guidelines adherence was observed in only 1.4% of interviewed physicians. According to bronchiolitis diagnosis, appropriate Chest X-rays and blood tests were requested respectively by 57.8% and 59.3% of interviewed doctors. Regarding bronchiolitis therapeutic management, bronchodilators and epinephrine nebulization weren't prescribed by respectively 45.7% and 38.6% of them. Antibiotics were prescribed by 92.9% of interviewed doctors and chest physiotherapy was well indicated by 47.8% of them. CONCLUSIONS: There is a disconnect between the bronchiolitis guidelines and clinical practice. National strategies have to be developed to reduce excessive use of diagnostic tests and unrecommanded therapies.
Assuntos
Bronquiolite , Padrões de Prática Médica , Doença Aguda , Bronquiolite/diagnóstico , Bronquiolite/epidemiologia , Bronquiolite/terapia , Estudos Transversais , Humanos , Tunísia/epidemiologiaRESUMO
BACKGROUND: Abdominal tuberculosis (TB) includes infection of the gastrointestinal tract, peritoneum, mesentery, abdominal lymph nodes, liver, spleen, and pancreas. The most common forms of abdominal TB in children are adhesive peritonitis and nodal disease. PATIENTS AND METHODS: We report our experience with abdominal TB treated in our hospital from 1995 to 2008. RESULTS: Thirteen patients (3 boys and 10 girls) of mean age 9.8 years were diagnosed as having abdominal TB. Eight patients presented with abdominal distension and abdominal pain. Fever was seen in 4 patients. One patient had surgical abdominal pain and 2 had abdominal mass. Two patients had coexisting pleural effusion and 1 of them had multifocal TB. Abdominal TB involved peritoneum in 9, abdominal lymph nodes in 7, gastrointestinal tract in 3, spleen in 2 patients, and liver in 1. Ascitic fluid analysis of 9 patients showed exudative fluid with predominately lymphocytes. Laparotomy was performed in 3 patients. The diagnosis of abdominal TB was confirmed histopathologically in 5 patients and microbiologically in 3. The remaining patients had been diagnosed by ascitic fluid diagnostic features, abdominal imaging, tuberculin skin test, history of exposure, and a positive response to antituberculous treatment. Twelve patients completed the antituberculous therapy without any complications. One patient with multifocal TB had neurological sequelae. CONCLUSIONS: In the areas with a high prevalence of tuberculosis and confirmatory investigations are inadequately available, treatment may be initiated, based on strong clinical diagnosis and supportive investigations. In such situations, it is the response to therapy that indirectly proves the diagnosis.
Assuntos
Trato Gastrointestinal/patologia , Fígado/patologia , Linfonodos/patologia , Peritônio/patologia , Baço/patologia , Tuberculose/patologia , Adolescente , Antituberculosos/uso terapêutico , Ascite/etiologia , Criança , Feminino , Trato Gastrointestinal/microbiologia , Humanos , Laparotomia , Fígado/microbiologia , Linfonodos/microbiologia , Linfócitos , Masculino , Mycobacterium tuberculosis , Peritônio/microbiologia , Baço/microbiologia , Tuberculose/tratamento farmacológico , Tuberculose/microbiologiaRESUMO
Nasal and upper respiratory tract obstruction in the neonatal period can result from a variety of conditions, and may be present with variable symptoms. Salivary gland anlage tumor, also referred as congenital pleomorphic adenoma, is a very rare benign congenital tumor of the nasopharynx, which may produce nasal obstruction and other associated, nonspecific symptoms. We report a case of congenital salivary gland anlage tumor causing a severe neonatal respiratory distress with pulmonary hypertension. The tumor was removed and the outcome was favourable without recurrence at five years of the follow up.
Assuntos
Neoplasias Nasofaríngeas/congênito , Neoplasias Nasofaríngeas/patologia , Nasofaringe/patologia , Neoplasias das Glândulas Salivares/congênito , Feminino , Humanos , Recém-Nascido , Masculino , Neoplasias Nasofaríngeas/complicações , Neoplasias Nasofaríngeas/cirurgia , Nasofaringe/cirurgia , Gravidez , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Neoplasias das Glândulas Salivares/complicações , Neoplasias das Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/cirurgia , Resultado do TratamentoRESUMO
BACKGROUND: Congenital candidiasis is rare occurring in most cases in premature and low birth weight new born. It can produce a spectrum of disease ranging from a diffuse skin eruption to a severe systemic disease with or without skin involvement. Amphotericin B is the first-line agent for the treatment of systemic disease. AIM: To describe a congenital candidiasis in a full-term newborn. CASE REPORT: At birth, the newborn had a generalized, erythematous, papulovesicular eruption. He was treated by topic antifungal therapy. However, on the third day, he developed a systemic disease with respiratory distress and fever. Ear, skin swab and gastric aspirate grew to Candida albicans. The newborn was given fluconazole for 10 days with favourable outcome. CONCLUSION: Early topic therapy did not prevent systemic spread of congenital cutaneous candidiasis in our case. Treatment with fluconazole, as the first-line agent, seems effective and safe.
Assuntos
Candidíase Cutânea/congênito , Candidíase Cutânea/complicações , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Antifúngicos/uso terapêutico , Candidíase Cutânea/tratamento farmacológico , Feminino , Fluconazol/uso terapêutico , Humanos , Recém-Nascido , Síndrome do Desconforto Respiratório do Recém-Nascido/tratamento farmacológicoRESUMO
BACKGROUND: Mediastinal mass of tuberculous origin is exceedingly rare in infant. AIM: to report an exceedingly rare case of mediastinal mass of tuberculous origin. CASE REPORT: We report a three-month-old boy who presented a one month history of wheezing and persistent pneumopathy. Radiological investigations showed a large posterior mediastinal mass which infiltrates lungs. Thoracoscopic biopsy showed caseous necrosis with granuloma suggestive of tuberculosis. The outcome was favourable with antituberculous chemotherapy. CONCLUSION: Mediatinal mass of tuberculous origin should considered in differential diagnosis of mediastinal masses in children; be suggested in mediastinal mass in children.
Assuntos
Corticosteroides/uso terapêutico , Antituberculosos/uso terapêutico , Doenças do Mediastino , Tuberculose , Corticosteroides/administração & dosagem , Antibióticos Antituberculose/administração & dosagem , Antibióticos Antituberculose/uso terapêutico , Antituberculosos/administração & dosagem , Quimioterapia Combinada , Etambutol/administração & dosagem , Etambutol/uso terapêutico , Seguimentos , Humanos , Lactente , Isoniazida/administração & dosagem , Isoniazida/uso terapêutico , Imageamento por Ressonância Magnética , Masculino , Doenças do Mediastino/diagnóstico , Doenças do Mediastino/tratamento farmacológico , Pirazinamida/administração & dosagem , Pirazinamida/uso terapêutico , Rifampina/administração & dosagem , Rifampina/uso terapêutico , Fatores de Tempo , Resultado do Tratamento , Tuberculose/diagnóstico , Tuberculose/tratamento farmacológicoRESUMO
BACKGROUND: Febrile seizure is a frequent cause of hospitalization. Its management remains problematic. According to the American Academy of Pediatrics, lumbar puncture, which is not devoid of risk, is strongly recommended in infants under 1 year. AIM: to define the utility of lumbar puncture in the management of febrile seizures in infants under 12 months and to identify risk factors of meningitis and to respond to this question: "lumbar punction should be done in which infant with febrile seizure?" PATIENTS AND METHODS: This retrospective study was conducted in the department of pediatrics B in the Children Hospital of Tunis on eight-year period (2000-2008). In all statistical tests, significance level was set at 0.05. RESULTS: One hundred and six cases were collected during the period of study. Seizures related to bacterial meningitis were seen in 11 cases (10%). We have separated two groups: GI infants presented bacterial meningitis, and G2 infants with febrile seizure. The comparison between the two groups G1 and G2 showed the following predictors factors of meningitis: age < or = 7 months (p = 0.035), partial seizure (p = 0.028), duration of seizure > 5 min (p < 0.001), recurrence of seizure in the same day(p = 0,006), neurological abnormalities p < 0.001), CRP > 20 mg/l (p = 0.03), hyponatremia < or = 125 mmol/l (p = 0.01). The risk of meningitis is very low: 3.1 x 10 -3, if this condition is met: infants older than 7 months, having a unique and short seizure < or = 5 min, and with a CRP < or = 20mg/l. CONCLUSION: If the infant is older than 7 months, presenting a unique, febrile and short (< or = 5 min) seizure, having a normal neurological examination with CRP < or = 20 mg/l, lumbar puncture should be discussed a case by case but an hospitalization for 24 hours is required for monitoring.
Assuntos
Meningites Bacterianas/diagnóstico , Convulsões Febris/complicações , Punção Espinal , Fatores Etários , Proteína C-Reativa/análise , Feminino , Humanos , Lactente , Masculino , Análise Multivariada , Recidiva , Estudos Retrospectivos , Fatores de TempoRESUMO
BACKGROUND: Triple X is a sex chromosomal abnormality that involves the presence of three sex chromosomes resulting in 47, XXX karyotype. Most patients suffering from this syndrome are usually mentally normal or subnormal with no gross malformation. AIM: to report an unusual association between Triple X and Marfan disease in a girl. CASE REPORT: A case of a triple X girl with craniofacial dysmorphy and skeletal anomalies, who did feat Marfan criteria by age, is presented. CONCLUSION: To the best of our knowledge this association has never been reported. Some clinical features are common between Triple X and Marfan disease so a careful follow-up is needed and investigations should be performed in these patients because Marfan syndrome may be incomplete in early age.
Assuntos
Cromossomos Humanos X/genética , Síndrome de Marfan/genética , Anormalidades Múltiplas , Atrofia/diagnóstico por imagem , Encéfalo/patologia , Consanguinidade , Feminino , Humanos , Lactente , Radiografia , Aberrações dos Cromossomos SexuaisRESUMO
AIM: To establish a preliminary national report on clinical and genetic features of cystic fibrosis (CF) in Tunisian children as a first measure for a better health care organization. METHODS: All children with CF diagnosed by positive sweat tests between 1996 and 2015 in children's departments of Tunisian university hospitals were included. Data was recorded at diagnosis and during the follow-up from patients' medical records. RESULTS: In 12 departments, 123 CF children were collected. The median age at diagnosis was 5 months with a median diagnosis delay of 3 months. CF was revealed mostly by recurrent respiratory tract infections (69.9%), denutrition (55.2%), and/or chronic diarrhea (41.4%). The mean sweat chloride concentration was 110.9mmol/L. At least one mutation was found in 95 cases (77.2%). The most frequent mutations were Phe508del (n=58) and E1104X (n=15). Fifty-five patients had a Pseudomonas Aeruginosa chronic colonization at a median age of 30 months. Cirrhosis and diabetes appeared at a mean age of 5.5 and 12.5 years respectively in 4 patients each. Sixty-two patients died at a median age of 8 months. Phe508del mutation and hypotrophy were associated with death (p=0.002 and p<0.001, respectively). CONCLUSION: CF is life-shortening in Tunisia. Setting-up appropriate management is urgent.
Assuntos
Fibrose Cística/epidemiologia , Criança , Fibrose Cística/complicações , Diarreia/etiologia , Feminino , Humanos , Lactente , Masculino , Desnutrição/etiologia , Infecções Respiratórias/complicações , Infecções Respiratórias/etiologia , Estudos Retrospectivos , Tunísia/epidemiologia , Adulto JovemRESUMO
We report a 10-month-old boy who presented with a giant perianal condyloma acuminatum, and a similar lesion on the neck. These lesions were treated by surgical excision with satisfactory results. This size, extent, and early age of appearance make this case highly unusual.
Assuntos
Doenças do Ânus/patologia , Condiloma Acuminado/patologia , Pescoço , Doenças Retais/patologia , Dermatopatias/patologia , Doenças do Ânus/cirurgia , Condiloma Acuminado/cirurgia , Humanos , Lactente , Masculino , Doenças Retais/cirurgia , Dermatopatias/cirurgiaRESUMO
AIM: to determine the prevalence of rotavirus in acute diarrhea among children under 5 years and to describe the epidemiology, clinical trials of rotavirus diarrhea and compare them with those of other gastroenteritis. METHODS: A Prospective study during 1 year (1 January 2007-31 December 2007) was conducted in the department of Pediatrics B of the Children's Hospital of Tunis. 117 children aged under than 5 years and admitted for acute community gastroenteritis were included in the study. A search of rotavirus in the stool, collected within 48 hours of admission, was performed by a rapid detection of viral antigens: proteins specific RV group A (VP6 protein of the capsid) using enzyme immunoassay technique: sandwich ELISA (IDEIA Rotavirus Dako). RESULTS: Rotavirus diarrhea accounted for 25% of acute gastroenteritis. The average age of rotavirus gastroenteritis was 11 months +/- 1.78. We have noted a male predominance with a sex ratio of 1.2. The seasonal distribution of rotavirus gastroenteritis showed three peaks of incidence (January, May and July). The respiratory signs were more frequently found in rotavirus gastroenteritis group. Rotavirus gastroenteritis had a higher severity score compared with other gastroenteritis (8.44 vs 6.75 P = 0.01). The duration of hospitalization was longer in rotavirus group with a difference close to significance p = 0.07. CONCLUSION: The seasonal distribution of rotavirus gastroenteritis has three peaks of incidence. The gastroenteritis Rotavirus affects very young infants and has more severe symptoms than other gastroenteritis and is significantly associated with respiratory signs.
Assuntos
Diarreia Infantil/virologia , Diarreia/virologia , Gastroenterite/virologia , Infecções por Rotavirus , Fatores Etários , Pré-Escolar , Diarreia/diagnóstico , Diarreia/epidemiologia , Diarreia Infantil/diagnóstico , Diarreia Infantil/epidemiologia , Ensaio de Imunoadsorção Enzimática , Feminino , Gastroenterite/diagnóstico , Gastroenterite/epidemiologia , Humanos , Técnicas Imunoenzimáticas , Incidência , Lactente , Masculino , Estudos Prospectivos , Infecções por Rotavirus/diagnóstico , Infecções por Rotavirus/epidemiologia , Estações do Ano , Índice de Gravidade de Doença , Fatores SexuaisRESUMO
BACKGROUND: Community acquired pneumonia is responsible for a high morbidity in children. The etiological diagnosis is not always easy and treatment remains probabilistic. AIM: To analysis clinical patterns and the outcome of community acquired pneumonia and to find arguments in favour of its origin. METHODS: A prospective analysis of the files of 39 children (20 boys, 19 girls) hospitalized between (1 december 2004 - 30 june 2005) for community acquired pneumonia was performed. Included dchildren whad between 6 months and 15 years-old. RESULTS: The mean age was of 3 years and three months. Germ was identified in 41% of cases: Mycoplasma pneumoniae was the most important germ found in 9 cases, pneumococcus was found in 4 cases and hemophilus in four cases. Coinfection pneumococcus and mycoplasma were found in two cases. None virus was identified. We have separated two groups: bacterial pneumonia and pneumoniae without definite etiology. Fat cough was associated to bacterial pneumonia. mycoplama pneumoniae was significantly associated with high fever and dry cough. We haven't found any others associations between clinical, biological or radiological patterns and the two groups of pneumonia. C-reactive protein more than 66 mg/l has sensitivity of 77%, specificity of 73.3%, positive predictive value of 46.7% of and negative predictive value of 91.7%. The outcome was favourable in all cases. CONCLUSION: Theses results showed the necessity to improve our microbiological methods to identify infectious agents of pneumonia. Mycoplasma pneumonia seems to be a frequent germ in preschool children.
Assuntos
Pneumonia Bacteriana/epidemiologia , Pneumonia Bacteriana/microbiologia , Adolescente , Criança , Pré-Escolar , Infecções Comunitárias Adquiridas/epidemiologia , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Tunísia/epidemiologiaRESUMO
BACKGROUND: Cockayne syndrome is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. Classically, the onset of Cockayne syndrome starts in the second year of life. The failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful diagnostic test and the clinical feature that correlates most strongly with defective RNA synthesis is photosensitivity. AIM: To report an unusual case of Cockayne Syndrome. CASE REPORT: A case of a five-year-old girl with Cockayne with an onset in early infancy the girl and without photosensitivity is presented. The diagnosis was confirmed by the failure of RNA synthesis to recover to normal rate after UV-C irradiation. The patient died at the age of 6 of pneumonia. CONCLUSION: Although rare, Cockayne syndrome may be presented without photosensitivity and had an early onset.
Assuntos
Síndrome de Cockayne/diagnóstico , Encéfalo/patologia , Pré-Escolar , Consanguinidade , Face/anormalidades , Evolução Fatal , Feminino , Humanos , Imageamento por Ressonância Magnética , TunísiaRESUMO
BACKGROUND: Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and neurosensoriel deafness, responding in varying degrees to thiamine treatment. AIM: Report an unusual case of this rare disorder CASE REPORT: We report the case of a four-year-old boy who presented unusual features of thiamine-responsive megaloblastic anemia. In addition to the typical triad of the syndrome, he presented leuconeutropenia, hepatosplenomegalia, cardiac abnormalities including absent P waves, mitral and tricuspid insufficiency, retinitis pigmentosa, nystagmus, developmental delay and a brain Magnetic resonance imaging ischemic lesion. Lactate levels in serum and the lactate/pyruvate ratio were increased. The mitochondrial mutation m.3243A > G located in MTTL1 gene encoding for transfer RNA leucine (tRNALeu(UUR)) was not found. Treatment with thiamine resulted in normalisation of the haemoglobin level, white cell count, and glucose and lactate levels. On three years follow up, the patient did not need insulinotherapy. CONCLUSION: These data sign the crucial role that thiamine plays for many cells and tissues and its importance in the activity of the respiratory chain.