Tuberculous meningitis in Bacille Calmette-Guerin-vaccinated children: clinical spectrum and outcome.

The Bacille Calmette-Guérin vaccination (BCG) contributed widely to reduce tuberculosis incidence in developing countries. The aim of this report was to assess the clinical "spectrum" and outcome of tuberculous meningitis in 16 Bacille Calmette-Guérin-vaccinated Tunisian children. They were 9 boys and 7 girls aged 2 to 168 months (median 72 months ± 65.88). Patients presented mainly with nonspecific symptoms. Neurologic severity was classified as grade I (n = 6) and grade II or III (n = 10). At short-term course, the majority of patients developed serious complications: hydrocephalus (n = 12), seizures (n = 8), tuberculoma (n = 6), and acute respiratory failure (n = 2). Three patients died. Among survivors, 4 patients showed a complete recovery while 9 developed permanent sequelae which were mild (n = 6) to severe (n = 3). Despite the Bacille Calmette-Guérin vaccination, tuberculous meningitis remains a life-threatening condition; vaccinated children have shown common presentation of tuberculous meningitis in terms of severity and poor outcome.

The new health legacy: when pertussis becomes a heritage transmitted from mothers to infants.

Despite high vaccination coverage rates, there has been a gradual increase in reported pertussis cases. Although whooping cough affects all ages, young infants continue to suffer the greatest pertussis disease burden. Adolescents and adults are the primary source of infection for young babies. In this paper, we report two cases involving the likely transmission of pertussis from mothers to infants in Tunisia.

Congenital cutaneous candidiasis associated with respiratory distress in a full-term newborn.

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.

Mediastina Tuberculosis mass in a three-month-old boy.

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.

Congenital salivary gland anlage tumor of the nasopharynx.

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.

Abdominal tuberculosis in children.

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.

[Role of lumbar puncture for febrile seizure among infants under one year old]. / L'utilité de la ponction lombaire en cas de convulsion fébrile chez le nourrisson agé de moins d'un an.

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.

Marfan syndrome in a Triple-X girl: a new association?

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.

An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient.

Metachromatic leukodystrophy is an autosomal recessive neurodegenerative lysosomal disease characterized by a deficiency of the lysosomal enzyme arylsulfatase A and the subsequent accumulation of sulfatide in neuronal and visceral tissues. Clinical diagnosis is usually confirmed by in vitro analysis of arylsulfatase A activity but may be complicated in cases of arylsulfatase A pseudodeficiency and sphingolipid activators protein deficiency. We report the case of a 3-year-old boy who presented a severe form of late infantile metachromatic leukodystrophy. This patient was found to be homozygous for the arylsulfatase A pseudodeficiency. This condition is rare and can lead to a severe disease. Prenatal diagnosis was performed in this family, and the fetus was healthy.

Central system nervous tuberculosis in infants.

The lack of specific symptoms and signs in patients with tuberculous meningitis makes early diagnosis difficult. In this report, we reviewed the clinical features and laboratory findings of 6 infants with central system nervous tuberculosis during a 10-year period. One of the patients had multifocal tuberculosis. The mean time to the diagnosis was 32 +/- 13.4 days. A contact source was identified in only 2 patients. All 6 patients had abnormal cerebrospinal fluid findings, less than 500 cells/microL with lymphocytic predominance. Computerized tomography (CT) and/or magnetic resonance imaging (MRI) revealed hydrocephalus with basal enhancement in 2 patients. One patient developed pontocerebellar and pituitary tuberculomas, which were responsible for compression and diabetes insipidus, 1 year after antituberculous treatment. These localizations are very rare. On the follow-up, 3 patients had hypoacousia and only 1 had severe sequelae, despite a diagnostic delay.

Giant condyloma acuminatum in an infant.

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.

Unusual case of thiamine responsive megaloblastic anemia.

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.

A randomized, controlled trial of nebulized terbutaline for the first acute bronchiolitis in infants less than 12-months-old.

BACKGROUND: Despite the common clinical practice, the available evidence on the efficacy of bronchodilators therapy for bronchiolitis is conflicting. The aim of this study is to evaluate the efficacy of nebulized terbutaline 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 December 2004 to April 2006. A total of 35 patients less than 12 months of age with diagnosis of moderately severe bronchiolitis were enrolled and assigned to receive nebulized terbutaline or normal saline placebo at admission (T0), at 30 minutes after admission (T30) and every four hours during a study period. Outcome measurements included: Respiratory Distress Assessment Instrument (RDAI) score, respiratory rate, oxygen saturation, heart rate and the duration of hospitalization. RESULTS: There were no significant difference between terbutaline and placebo at baseline, T30 min, T60 min, and T120 min after start study in RDAI score, oxygen saturation in room air, rate respiratory and heart rate. There was no difference in duration of hospitalization. CONCLUSION: Nebulized terbutaline therapy does not appear effective in treating moderately ill infants with the first acute bronchiolitis.

Multiple congenital anomalies/mental retardation syndrome with multiple circumferential skin creases: a new syndrome?

We describe a combination of multiple congenital anomalies, a severe psychomotor retardation and seizures in a 9-year-old Tunisian boy with circumferential ringed skin creases. He had symmetrical circumferential skin creases on arms, legs, and penis. Craniofacial anomalies included: an elongated face, tight forehead, hypertelorism, bilateral epicanthic folds, upslanting palpebral fissures, microphthalmia, convergent strabismus, wide nasal bridge, aberrant teeth, dental caries, and low-set posteriorly rotated ears with overfolded thick helices. He had also ureterocele, hypospadias, and others anomalies. The magnetic resonance imaging of the brain showed hypoplastic vermis, hypoplastic corpus callosum, and dilatation of ventricles. Chromosomal analysis revealed a normal male karyotype with 46,XY. Skin biopsy was normal. To the best of our knowledge, this combination of anomalies has not been reported and this case may be a unique syndrome.

Megalencephalic leukoencephalopathy with subcortical cysts in a Tunisian boy.

Megalencephalic leukoencephalopathy with subcortical cysts is an autosomal recessive cerebral white-matter disorder in children. Megalencephalic leukoencephalopathy with subcortical cysts is caused by mutation in the megalencephalic leukoencephalopathy with subcortical cysts gene 1. The authors report a case of a 2-year-old Tunisian boy who had presented seizure following minor head trauma. He had megalencephaly, cerebellar ataxia, and mild pyramidal signs at physical examination. Magnetic resonance imaging showed extensive white-matter signal changes involving the corpus callosum and temporal subcortical cysts consistent with megalencephalic leukoencephalopathy with subcortical cysts. The molecular genetic study of the megalencephalic leukoencephalopathy with subcortical cysts gene 1 identified a homozygous mutation C46fsX57 in the patient. The mutation was found to be heterozygous in the parents. To the best of the authors' knowledge, this mutation has never been reported.

[Infectious diarrhoea in children under five years]. / Les gastroentérites aigues chez les enfants de moins de 5 ans.

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.

[Community acquired pneumonia in children]. / Pneumopathies communautaires chez l'enfant.

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.

Infantile onset of Cockayne syndrome without photosensitivity in a Tunisian girl.

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.