<Emphasis Type="Italic">Saccharomyces boulardii</Emphasis> in childhood

Introduction  Probiotics are live microorganisms which confer a health benefit on the host. Saccharomyces boulardii, a yeast, has been found to be an effective probiotic in double-blind placebo-controlled randomized clinical studies. Materials and methods  We reviewed the established mechanisms of actions and clinical efficacy in children of S. boulardii. Conclusions  The mechanisms of action of S. boulardii depend mainly on the inhibition of some bacterial toxins, anti-inflammatory effects, and on stimulating effects on the intestinal mucosa such as trophic effects on the brush border enzymes and immunostimulatory effects. At present, in pediatric populations, there is evidence that S. boulardii is beneficial for the treatment of acute gastroenteritis and the prevention of antibiotic-associated diarrhea. More data are needed in other indications such as traveller’s diarrhea, Helicobacter pylori eradication, and inflammatory bowel disease. S. boulardii is a yeast strain that has been extensively studied in vitro and in vivo. Recent data have opened the door for new therapeutic indications. An erratum to this article can be found at     

<Emphasis Type="Italic">NPHS2</Emphasis> mutations

Objective  To uncover the frequency and the spectrum of NPHS2 mutations in Egyptian children with non familial steroid-resistant nephrotic syndrome (SRNS). Methods  Sixteen patients were screened by PCR-single-strand conformation polymorphism analysis of NPHS2 gene followed by direct sequencing. Results   NPHS2 mutations were evident in four patients (25%) who were bearing four novel mutations including two frame shift mutations (R238fs and P45fs) and two missense mutations (I136L and F216Y). There were no phenotypic or histological characteristics of patients bearing NPHS2 mutations, apart from the earlier onset of the disease, compared to those who were not bearing mutations. Conclusion   NPHS2 mutations are prevalent in Egyptian children with non-familial SRNS and this may in part explain the less favorable prognosis reported in these patients.     

Vertical transmission of <Emphasis Type="Italic">Salmonella paratyphi A</Emphasis>

Neonatal enteric fever is a rare but life-threatening illness. Patients may present with varying severity, Salmonella enterica serotype Typhi causing more severe illness than Salmonella enterica serotype Paratyphi A. Salmonella enterica serotype Paratyphi A is considered to cause milder infection with fewer complications. We report a rare case of vertical transmission of Salmonella enterica serotype Paratyphi A with severe complications and high mortality. Eventhough there are case reports of vertical transmission of Salmonella enterica serotype Typhi, to our knowledge, this is the first case report of vertical transmission of Salmonella enterica serotype ParatyphiA. The role of blood culture in accurate diagnosis and treatment is also discussed.     

Comparison of community-acquired methicillin-resistant <Emphasis Type="Italic">Staphylococcus</Emphasis><Emphasis Type="Italic">aureus</Emphasis> bacteremia to other staphylococcal species in a neonatal intensive care unit

Hospital acquired infections including staphylococcal species are common in neonatal intensive care units. Community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) was recently observed in our unit. The clinical and laboratory characteristics of all neonates with Staphylococcus aureus bacteremia during an 11-year period were retrospectively reviewed. Three groups of patients were compared: 1. Patients with CA-MRSA defined as MRSA-resistant only to beta-lactams, but sensitive to all other antibiotic groups and carried SCCmec IV. 2. Patients with multi-drug-resistant (MDR)-MRSA and 3. Patients with MSSA (methicillin-sensitive S. aureus). Forty-three neonates with documented S. aureus bacteremia were included. Of these 41 were preterm babies. Eleven infants had CA-MRSA, 20 had MDR-MRSA and 12 had MSSA bacteremia, the Panton-Valentine-Leukocidine gene (pvl-gene) was not present in any of these strains. Risk factors, clinical manifestations and laboratory tests were similar in all three groups studied. Although neonates infected with CA-MRSA were more premature and had more related diseases, the mortality rate was similar in all groups (9.1% in the CA-MRSA group). Skin infections, osteomyelitis or pneumatocele were not observed more frequently in the CA-MRSA group. We did not find significant differences in risk factors or outcomes in neonates in the three groups. One possible explanation for this observation is that the CA-MRSA outbreak strain did not contain the pvl-gene, which has been suggested to be a significant virulence factor.     

<Emphasis Type="Italic">Chlamydophila pneumoniae</Emphasis> Myopericarditis in a Child

An 11-year-old boy with serologically confirmed Chlamydophila pneumoniae infection presented with clinical, laboratory, and echocardiographic changes consistent with myopericarditis. No reports on C. pneumoniae myopericarditis in children are found in the medical literature. The boy, previously healthy, presented with fever, rash, constitutional symptoms, elevated acute phase reactants, elevated cardiac enzymes, and high brain natriuretic peptide levels. Hemodynamic instabilities, including hypotension and mild hypoxia, were noted. Two-dimensional echocardiographic findings showed mildly depressed left ventricular systolic function and small pericardial effusion. Requiring inotropic support, the boy was treated with azithromycin 10 mg/kg once daily for 7 days and a single dose of intravenous immunoglobulin 2 g/kg. He recovered fully with improved left ventricular systolic function before hospital discharge. An early definitive diagnosis is essential to knowing the etiology of pediatric myocarditis. Specific therapy may play role in the management and prognosis of this disorder.     

Acquired angioedema and<Emphasis Type="Italic"> Helicobacter pylori</Emphasis> infection in a child

We describe a 10-year-old boy with acquired Helicobacter pylori infection and simultaneous angioedema which is a rare but life-threatening condition. Our patient was hospitalised with generalised angioedema and severe circulatory shock due to extreme loss of fluids and proteins into interstitial tissues (weight gain 10 kg within 2 days, extreme haemoconcentration – haemoglobin 206 g/l, haematocrit 0.570, leucocytosis 18,300 /µl, high lactate 13.8 mmol/l) and simultaneous failure of the complement system (C3 <0.16 g/l, C4 <0.13 g/l, CH50 45 U/ml, i.e. 50% of normal value, C1 inhibitor 0.21 g/l at the lower limit). All possible known causes of angioedema were excluded (infection, allergy, auto-immune disease, NSAIDs, lymphoproliferative disease) except for the simultaneous H. pylori infection which was proven serologically and histologically. Eradication therapy led to a complete remission of the H. pylori infection. An absence of angioedema and the restoration of the complement system was later observed. To the best of our knowledge, no similar case report of a child has yet been published. Conclusion: Helicobacter pylori infection should be considered in the development of angioedema in childhood.     

<Emphasis Type="Italic">Enterobius vermicularis</Emphasis> and perianal sepsis in children

Specific aetiological factors are responsible for a significant proportion of cases of perianal sepsis in children. A rarely implicated pathogen is Enterobius vermicularis, an obligate parasite with a ubiquitous presence in children. The authors describe two unequivocal instances of threadworm involvement in perianal sepsis, suggesting a pathophysiological basis.     

Antibiotic resistant <Emphasis Type="Italic"> Streptococcus pneumoniae </Emphasis>and hemolytic uremic syndrome

The hemolytic uremic syndrome (HUS) is the most common cause of acute renal failure in young children and most often follows an episode of gastroenteritis caused by an enterohemorrhagic strain of Escherichia coli (O157:H7). HUS induced by Streptococcus pneumoniae (SP) is rare. We report an 18-month-old patient who presented with HUS associated with SP resistant to penicillin and cephalosporins. Conclusion:Despite a protracted course including renal failure requiring 15 days of peritoneal dialysis, her kidney function completely recovered.     

Tissue damage in rat ovaries subjected to torsion and detorsion: effects of <Emphasis Type="SmallCaps">l</Emphasis>-carnitine and <Emphasis Type="Italic">N</Emphasis>-acetyl cysteine

We aimed to evaluate histopathological changes, to detect HIF-1α staining intensities and to determine MDA levels in rat ovaries, which were subjected to torsion and detorsion and treated with l-carnitine or N-acetyl cysteine (NAC). Forty-eight prepubertal female Sprague–Dawley rats were divided into five groups (n = 8): 1, control; 2, ischemia; 3, reperfusion; 4, l-carnitine; and 5, NAC groups. In groups 3, 4 and 5, an ischemic period of 3 h was followed by reperfusion for 24 h. In groups 4 and 5, ischemia was performed and either l-carnitine or NAC was infused intraperitoneally 30 min before reperfusion. Ovarian tissues were examined histopathologically; tissue MDA levels and serum IL-6 levels were determined biochemically. HIF-1α was applied to all ovaries immunohistochemically. Total tissue damage scores, tissue MDA levels and HIF-1α scores, were significantly higher in group 2 (all P < 0.001) than group 4, and group 3 than group 4 (P < 0.001, P = 0.05 and P < 0.001, respectively). They were also significantly higher in group 2 (all P < 0.001) than group 5. When group 3 is compared to group 5, total tissue damage scores and tissue MDA levels were significantly higher in the former (P < 0.01 and P < 0.001, respectively). Serum IL-6 levels were significantly higher in group 2 when compared to groups 1, 4 and 5 (all P < 0.01). The degree of tissue damage of the torsioned ovaries decreased after a reperfusion period of 24 h in the torsioned ovaries. However, ovaries of both l-carnitine and NAC groups showed better recovery than the reperfusion group. This study was accepted for poster presentation in the 21st European Congress of Pathology, held in Istanbul, Turkey, on 8–13 September 2007.     

Early <Emphasis Type="Italic">Mycoplasma pneumoniae</Emphasis> infection presenting as multiple pulmonary masses: an unusual presentation in a child

Mycoplasma pneumoniae is a major cause of community-acquired pneumonia. Because most children are not imaged prior to onset of clinical symptoms, the appearance of early Mycoplasma infection has not been extensively studied. We present the case of an 11-year-old boy with large pulmonary masses incidentally detected during spine MRI evaluation for scoliosis. Eight days later, the patient developed acute respiratory symptoms, and the masses seen previously had evolved into a diffuse bronchiolitis. Diagnostic testing identified Mycoplasma pneumoniae as the likely etiology. We briefly review chest CT findings of infection by Mycoplasma and compare them to this unusual presentation of Mycoplasma pneumonia with subclinical imaging findings.     

<Emphasis Type="Italic">Staphylococcus aureus</Emphasis> meningitis secondary to occult spinal extradural abscess

We report a rare case of spinal extradural abscess presenting as Staphylococcus aureus meningitis in a previously well child. After initial improvement with intravenous antibiotics the patient clinically deteriorated in a non-specific manner. Magnetic resonance imaging (MRI) scan of the spine revealed an occult spinal extradural abscess and urgent neurosurgical laminectomy led to full recovery. No evidence of an underlying spinal abnormality or immunodeficiency was demonstrated on investigation. A high index of suspicion is required in these cases due to the frequent absence in children of classic symptoms of spinal extradural abscess. Conclusion: we advise an urgent MRI of the head and spine in such unexplained cases of Staphylococcus aureus meningitis, to allow early diagnosis and management of occult underlying pathology. Such an approach will minimise the risk of potentially catastrophic neurological sequelae.     

Risk factors for allergic bronchopulmonary aspergillosis and sensitisation to <Emphasis Type="Italic"> Aspergillus fumigatus </Emphasis>in patients with cystic fibrosis

An increasing incidence of allergic bronchopulmonary aspergillosis (ABPA) as a complication in patients with cystic fibrosis (CF) is reported. The objective of this retrospective case-control study was to assess potential risk factors for ABPA and for Aspergillus fumigatus sensitisation (AFS). In a group of 160 CF patients, 11 (7%) fulfilled the diagnostic criteria for ABPA and 20 (13%) had evidence of AFS. They were compared to 62 control CF patients (25 for ABPA and 37 for AFS group) without evidence of ABPA or AFS using extended matching for sex, age and weight. AFS patients had received significantly higher cumulative doses of inhaled corticosteroids than their respective controls (OR 8.0; 95% CI 1.74–63). Bronchial colonisation with Stenotrophomonas maltophilia was strongly and independently associated with ABPA (OR 20; 95% CI 2.8– infinity). A longer duration of Pseudomonas aeruginosa colonisation was independently associated with AFS (OR per year 1.50; 95% CI 1.12– infinity). Conclusion: Cystic fibrosis patients with allergic bronchopulmonary aspergillosis have a more frequent isolation of S. maltophilia in their sputum than their controls. Longer duration of colonisation with P. aeruginosa is a risk factor for Aspergillus fumigatus sensitisation. Higher cumulative doses of inhaled corticosteroids are associated with Aspergillus fumigatus sensitisation and their role as a risk factor needs to be clarified.     

A case of <Emphasis Type="Italic">Listeria</Emphasis> meningoencephalitis complicated by hydrocephalus in an immunocompetent infant

We report a very unusual case of meningoencephalitis due to Listeria monocytogenes in a 7-month-old immunocompetent boy. Cerebrospinal fluid (CSF) culture was initially negative, but was positive on the seventh day. The disease was complicated by seizures and hydrocephalus managed with temporary ventriculostomy. The infant was discharged without obvious neurological sequelae after 30 days and developed without neurological or developmental sequelae at two years of age. Listeria is difficult to isolate and is not susceptible to third-generation cephalosporins commonly used for the empirical treatment of bacterial meningitis.     

<Emphasis Type="Italic">Malassezia furfur</Emphasis> Meningitis Associated with Total Parenteral Nutrition Subdural Effusion

We present a case of Malassezia furfur meningitis arising in a very low birth weight infant with chronic lung disease, necrotizing enterocolitis, and intraventricular hemorrhage. M. furfur meningitis was probably acquired late following successful treatment for earlier systemic central line-associated M. furfur infection. M. furfur meningitis has only once been previously reported. Unlike the previous case where meningitis was secondary to widespread blood-borne dissemination, infection was limited to the leptomeninges and arose in association with extravasation of total parenteral nutrition (TPN) and intralipid fluid into subarachnoid space via peripheral scalp catheter.     

Macrocephalic mental retardation associated with a novel C-terminal <Emphasis Type="Italic"> MECP2</Emphasis> frameshift deletion

We report a novel C-terminal MECP2 frameshift deletion (1135_1142delCCCGTG CC) in a 19-year-old woman with mental retardation and epilepsy. Preservation of language capabilities, purposeful hand use and sufficient locomotion implied an atypical variant of Rett syndrome (OMIM 312750). Occipito-frontal head circumference was large at birth (36 cm; SDS 1.7) and increased until adulthood (58.5 cm; SDS 2.3). Conclusion: Our observation indicates that head size and head growth are of limited reliability in the diagnosis of MECP2-associated phenotypes.     

<Emphasis Type="Italic">Mycoplasma pneumoniae</Emphasis>: nervous system complications in childhood and review of the literature

Mycoplasma pneumoniae is an important pathogen which causes nervous system disorders during or after the course of a respiratory tract infection. The exact pathogenic mechanism which causes neurological disorders still remains unknown. Although meningoencephalitis and acute disseminated encephalomyelitis are common complications, there are few cases of acute transverse myelitis and isolated abducens nerve palsy associated with M. pneumoniae infection in childhood. The association between ocular myasthenia gravis and M. pneumoniae infection has not been described before. Here, we describe five patients with different nervous system complications associated with M. pneumoniae infection and discuss the pathological features of central nervous system involvement.     

Multiple pheochromocytomas and paragangliomas in a young patient carrying a <Emphasis Type="Italic"> SDHD </Emphasis>gene mutation

We report a 13-year-old boy with an atypical manifestation of a multilocular paraganglioma. Surgical treatment was not curative despite extirpation of a left-sided abdominal paraganglioma. After surgery, the boy experienced several hypertensive crises. Further investigations including dopamine-positron emission tomography demonstrated bilateral adrenal tumours, a further right-sided paravertebral tumour as well as bilateral cervical glomus tumours. Genetic testing revealed a germline mutation in the succinate dehydrogenase subunit D (SDHD) gene. Conclusion:The final diagnosis was familial pheochromocytoma/paraganglioma type 1 (OMIM 168000). Antihypertensive treatment was succesfull and improved the patients quality of life.