A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis.

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.

Rare retro peritoneal tumor in infants.

Lipoblastoma is a rare mesenchymal tumor, occuring in less than three-year-old infants in 90% of the cases and in 40% of the cases in chidren aged less than one year. It can be present at birth. It is a benign tumor, with defined margins, that can be locally aggressive, without metastases. We report the case of retroperitoneal lipoblastomatosis, with a neonatal diagnosis made by ultrasonographic and CT features.

Self extrusion on an ingested foreign body: a case report.

Foreign body ingestion is a frequent issue in paediatrician's practice. Foreign bodies often pass the gastro-intestinal tract spontaneously but can sometimes generate complications (1% of the cases). The migration of ingested foreign bodies is rare, but their spontaneous extrusion through the skin is even rarer and was previously described only in the neck. We report an unusual case of a spontaneous extrusion of an ingested foreign body through the skin of the lower abdomen. Observation: A 2 year-old boy, presented with a 2cm inflammatory swelling of the hypogastric region. Laboratory analysis showed hyperleukocytosis (16 7770 /mm3) and high C reactive protein level at 12mg/L. Ultrasonography and computed tomography allowed us to diagnose a parietal foreign body extruding through the skin and to eliminate associated complication (perforation, vascular fistula…). The foreign body was extracted by a surgical incision. This observation is very rare but it is also uncommon because of the nature of the ingested foreign body which was a wooden piece. Its ingestion was explained by a paediatric mental disorder.

Impacts of bioremediation schemes for the mitigation of a low-dose anthracene contamination on free-living marine benthic nematodes.

A microcosm experiment was used to examine (1) the effects of different bioremediation schemes on degradation of anthracene and the structure of free-living marine nematodes in a lightly contaminated (4.5 µg g(-1)) sediment from Bizerte lagoon and (2) the responses of the nematode community upon an artificial spiking of a low dose anthracene (1 µg g(-1)). For that purpose sediment microcosms were incubated in laboratory for 40 days. Bioremediation techniques decreased the anthracene contamination, and interestingly, biodegradation were more efficient when anthracene was artificial supplied into the sediment suggesting that the addition of bioavailable anthracene stimulated the bacterial community to adjust towards a PAH-degrading community. Spiking with this low dose of anthracene provoked significant changes in the nematode community structure and abundance, with the elimination of specific species such as Mesacanthion diplechma, the decrease of the dominant species Oncholaimus campylocercoides and the increase in abundance of opportunistic species such as Spirinia parasitifera. This would suggest a low tolerance of the nematode community despite the presence of a weak anthracene contamination in the sediment that could have allow dominance of an anthracene tolerant nematode species. Anthracene toxicity was alleviated in biostimulation treatments, leading to a strong increase in nematode abundance, concomitantly with changes in the nematode community structure; Prochromadorella neapolitana became the most abundant species.

Multi slice computed tomography approach in the assessment of supracondylar humeral fractures in children.

The purpose of this study was to assess the impact of Multi Slice Computed Tomography (MSCT) on the understanding of the spatial displacement of supracondylar humeral (SCH) fractures, their classification and their management. A prospective study was conducted on 63 children with SCH fractures Gartland II or Lagrange 2 and 3, over a period of 30 months. The patients were 42 boys and 21 girls, aged between 3 and 14. All patients were imaged using conventional radiography. Thirty-two patients underwent MSCT and 3-dimensional reconstructions. According to the Lagrange classification system, 16 patients had type 2 fractures and 47 had type 3 fractures. In type 2, the posterior cortices of both medial and lateral columns were bent on CT (n = 6). In type 3, CT-scan made it possible to distinguish two subgroups. In the first subgroup (n = 12) there was fracture of both anterior and posterior cortices of the lateral column; however, the posterior cortical surface of the medial column was preserved. In the second subgroup (n = 14), there was no cortical surface contact in the medial column, but the continuity of the posterior cortical surface of the lateral column was preserved. Based on a new concept of column stability, the use of CT-scan has allowed for a better understanding of supracondylar fractures in children.

[Granulocytic sarcoma of the maxillary sinus: a pediatric case report]. / Sarcome granulocytaire du sinus maxillaire. À propos d'un cas pédiatrique.

BACKGROUND: Granulocytic sarcoma is a rare malignant extramedullary neoplasm of myeloid precursor cells, occuring before or after onset of leukaemia. Involvement of the head and neck region is rare, generally concerning the orbit. AIM: To illustrate imaging findings of granulocytic sarcoma in an unusual location; maxillary sinus. CASE: We report a case of maxillary sinus granulocytic sarcoma in a 13-month old boy revealed by facial nerve palsy, ptosis and jugal swelling, without any evidence of haematological disorders. The patient underwent computed tomography and magnetic resonance imaging exam which demonstrated a non specific maxillary sinus mass with destruction of the orbit floor and the alveolar bone. Diagnosis was obtained after bone biopsy allowing histological and immunohistochemical studies. CONCLUSION: Granulocytic sarcoma is a serious condition because of the associated hematologic disorders. In a sinus or orbit location, imaging features are non specific. Unless hematologic history is present, diagnosis is difficult and an immuno histo chemical study is required.

Magnetic resonance evaluation of acetabular residual dysplasia in developmental dysplasia of the hip: a preliminary study of 27 patients.

Thirty-one hips in 27 young girls, treated for developmental dysplasia of the hip in the authors' institute since 2003, showed persistent radiographic evidence of residual acetabular dysplasia. These hips were registered as candidates for pelvic osteotomy. A prospective study was conducted and these hips were evaluated by magnetic resonance imaging (MRI); the average age of the patients was 5 years. MRI measurement of acetabular angle and acetabular head index in 2 different landmarks (bone and cartilage) was performed. The results were correlated with plain radiographic film evolution. MRI studies revealed sufficient cartilaginous acetabular coverage in 27 hips, cartilaginous acetabular dysplasia in 2 hips, and short acetabulum in 2 others. The 27 hips with thick cartilage of the acetabular roof were subsequently followed up by plain radiographs. The average follow-up period was 2.1 years. The authors observed a spontaneous progressive ossification of the cartilaginous acetabular roof in all the 27 cases. In 4 cases, the correction of the acetabular angle was complete. They concluded that MRI promotes more accurate selection of patients for pelvic osteotomy and aids in the choice of the most appropriate type of osteotomy. Clinical imaging examples are presented and need to be further evaluated.

[Management of blunt duodenal and pancreatic injuries in children (about a series of 8 cases)]. / Prise en charge des traumatismes fermés du bloc duodéno- pancréatique chez l'enfant (a propos d'une série de 8 cas).

AIM: The aim of this retrospective study is to report eight cases of blunt duodeno-pancreatic trauma in infants, emphasizing on the role of imaging in acute assessment of the lesions and in further management. METHODS: We reported eight cases of duodeno-pancreatic injuries between 2006 and 2008, 5 boys and 3 girls with an age ranging from 3 to 12 years (median age: 7 years). Trauma circumstances were: car accident (n=2), domestic injury (n=5) and bicycle's fall injury (n=1). All patients underwent abdominal ultrasonography and CT scan in the initial evaluation and during the follow-up. RESULTS: Imaging showed the following pancreatic lesions: 3 corporeal fractures, 2 caudal fractures and one between the corporeal and the caudal portions. Four pancreatic haematomas were found. The associated lesions were duodenal, splenic, hepatic and renal. Two isolated duodenal haematomas were found. Two patients improved spontaneously, the six others developed complications: 4 acute pancreatitis, two infections, 3 pseudocysts and one retroperitoneal collection. Management was chirurgical in one case, medical in two cases, endoscopic in 2 cases and three percutaneaous drainages were performed. CONCLUSION: Blunt duodeno-pancreatic injuries in children have to be evaluated by an early imaging modality, in order to perform acute assessment of the lesions. Primary conservative treatment is advocated while clinic, biologic and imaging follow-up is required to detect complications, which management can be endoscopic, percutaneous or surgical.

Imaging of benign lipomatous tumours of the limbs in children.

BACKGROUND: Lipomatous tumours of the limbs in children are rare, and lipoblastoma is the most common soft tissue tumour. Most of them have typical imaging features, but their clinical presentation and their management may vary, depending on the exact histological subtype. The aim of our study is to illustrate the main clinical, radiological and histological features of the different benign lipomatous tumours in children. METHODS: Review of the literature. RESULTS: It is about a descriptive study of paediatric cases of benign lipomatous tumours of limb in children. CONCLUSION: The imaging findings are helpful and can provide essential components for the diagnosis.

Pyelonephritis xanthogranulomatous in childhood: case report and literature review.

BACKGROUND: Xanthogranulomatous pyelonephritis (XGP) is a specific form of chronic inflammatory kidney disease rarely seen in children. The Symptoms are often vague and non-specific AIM: the aim of this paper is to return the particularities of imaging features in xanthogranulomatous pyelonephritis, insisting on differential diagnosis with renal tumors, especially in case of no renal stone or tract obstruction evidence. CASE: We report a case of xanthogranulomatous pyelonephritis in a 2-year-old boy involving the lower renal pole which demonstrates the diagnostic difficulties encountered in this disease CONCLUSION: Xanthogranulomatous pyelonephritis is a rare condition in children and should be included in the differential diagnosis of a child presenting a renal mass.

Intestinal duplication revealed by posterior reversible encephalopathy syndrome.

We report a unique case of intestinal duplication detected on posterior reversible encephalopathy syndrome (PRES) in a 13-year-old girl. She was admitted to the pediatric Emergency Department because of generalized seizures. Radiological assessment revealed a large, well-defined, thick-walled cystic lesion in the mid abdomen, suggestive of duplication cyst associated to a PRES. Exploration confirmed the diagnosis of ileal duplication cyst, and the mass was resected. The postoperative course was uneventful. Both hypertension and neurological dysfunction resolved after the mass resection. A followup brain magnetic resonance imaging was performed 9 months later and showed complete resolution of the cerebellar changes. Although extrinsic compression of the retroperitoneal structures has not been reported in the literature as a complication of duplication cyst, we strongly believe that this is the most logical and plausible hypothesis that would explain the pathogenesis of PRES in our patient.

[Antenatal diagnosis of multicystic renal dysplsia. Report of 11 cases]. / Diagnostic antenatal des dysplasies renales multikystiques. A propos de 11 cas.

BACKGROUND: Multicystic dysplastic of the kidney (UCDK) in the most common cause of an abdominal man in the new born period and is the most common cystic malformation of the kidney in infancy. The increasingly widespread use of prenatal diagnostic techniques has revealed that UCDK is apparently even more prevalent than had been assumed. THE AIM: of this study was to assess the utility of antenatal ultra ecography for in utero diagnosid of UCDK and its management. METHODS: A retrospective study of 11 UCDK cases diagnosed by antenatal ultra echography performed between the 4th and 6th monts of pregnancy. The outcome measure was radiographic imaginy It acts of a retrospective study of the 11 cases of DRMK diagnosed in anténatal by an echography obstétricale of the second quarter. A diagnostic confirmation was obtained by radiological examinations in post native for the pregnancies carried. RESULT: Patients with UCDK have significant associated urological and/or non urological malformations. In certain cases of non lethal anomalies, antenatal detection may influence both obstetric and postnatal management. Conservative management requires appropriate investigation of urinary tract tract and long-term follow-up.

Effects of anthracene on filtration rates, antioxidant defense system, and redox proteomics in the Mediterranean clam Ruditapes decussatus (Mollusca: Bivalvia).

This study aimed at analyzing the impact of a toxic polyaromatic hydrocarbon (PAH), anthracene (ANT), on Ruditapes decussatus collected from a Tunisian coastal lagoon (Bizerte Lagoon). Filtration rates, several antioxidant enzymes--superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPx), glutathione reductase (GR), and glutathione transferase (GST)--as well as indices of protein oxidation status were determined in various tissues of this bivalve. Specimens were exposed to 100 µg/L of ANT for 2 days. ANT levels were evaluated using HPLC and were detected in the gill and digestive gland at different amounts. ANT exposure altered the behavior of bivalves by changing the siphon movement and decreasing filtration rate significantly. The enzymatic results indicated that ANT exposure affected the oxidative stress status of the gills of R. decussatus. In addition, modification of proteins was detected in the gills using redox proteomics after ANT treatment. Three protein spots were successfully identified by matrix-assisted laser desorption/ionization tandem time-of-flight mass spectrometry (MALDI-TOF-MS). These proteins can be roughly related to muscle contraction function. In contrast, no significant modification of enzymatic and protein responses was detected in the digestive gland after ANT treatment. These data demonstrate that combined behavioral and biochemical analyses are a powerful tool to provide valuable insights into possible mechanisms of toxicity of anthracene in R. decussatus. Additionally, the results highlight the potential of the gill as a valuable candidate for investigating PAH toxicity.

Changes of benthic bacteria and meiofauna assemblages during bio-treatments of anthracene-contaminated sediments from Bizerta lagoon (Tunisia).

Sediments from Bizerta lagoon were used in an experimental microcosm setup involving three scenarios for the bioremediation of anthracene-polluted sediments, namely bioaugmentation, biostimulation, and a combination of both bioaugmentation and biostimulation. In order to investigate the effect of the biotreatments on the benthic biosphere, 16S rRNA gene-based T-RFLP bacterial community structure and the abundance and diversity of the meiofauna were determined throughout the experiment period. Addition of fresh anthracene drastically reduced the benthic bacterial and meiofaunal abundances. The treatment combining biostimulation and bioaugmentation was most efficient in eliminating anthracene, resulting in a less toxic sedimentary environment, which restored meiofaunal abundance and diversity. Furthermore, canonical correspondence analysis showed that the biostimulation treatment promoted a bacterial community favorable to the development of nematodes while the treatment combining biostimulation and bioaugmentation resulted in a bacterial community that advantaged the development of the other meiofauna taxa (copepods, oligochaetes, polychaetes, and other) restoring thus the meiofaunal structure. The results highlight the importance to take into account the bacteria/meiofauna interactions during the implementation of bioremediation treatment.

Effect of permethrin, anthracene and mixture exposure on shell components, enzymatic activities and proteins status in the Mediterranean clam Venerupis decussata.

Anthracene (ANT) and permethrin (PER) are two of the more toxic compounds reaching the marine environment. This study aimed to determine the impact of these molecules on Venerupis decussata, an economically important species cultured on the Tunisian coast. Shell structure and its possible transformation upon exposure to the two contaminants were studied by X-ray diffraction and gravimetric analyses. Results revealed a phase transition in shell composition from aragonite to calcite after PER exposure, to a mixture of PER and ANT (Mix) but not for ANT alone. Catalase (CAT), superoxide dismutase (SOD) and glutathione transferase (GST) activities were determined in digestive gland and gills after exposure to ANT, PER and Mix to assess the impact of the contamination on the oxidative status of V. decussata. Enzyme activities increased in the digestive gland after PER treatment and in the gills after ANT treatment. PER exposure significantly reduced the levels of free thiols and increased levels of carbonylated proteins in the digestive gland, as compared to controls. In contrast, ANT exposure significantly reduced free thiols and increased the number of carbonylated proteins in the gills. Mix induced additive effects as measured by both enzymatic and proteomic approaches. The present study suggests that PER has a strong effect on shell structure; that PER and ANT exposure generate compound-dependent oxidative stress in the tissues of V. decussata and that a mixture of the two compounds has synergistic effects on biochemical response.

Responses of a free-living benthic marine nematode community to bioremediation of a PAH mixture.

The objectives of this study were (1) to assess the responses of benthic nematodes to a polycyclic aromatic hydrocarbon (PAH) contamination and (2) to test bioremediation techniques for their efficiency in PAH degradation and their effects on nematodes. Sediments with their natural nematofauna communities from Bizerte lagoon (Tunisia) were subjected to a PAH mixture (100 ppm) of phenanthrene, fluoranthene, and pyrene during 30 days. Nematode abundance and diversity significantly decreased, and the taxonomic structure was altered. Results from multivariate analyses of the species abundance data revealed that PAH treatments were significantly different from the control. Spirinia parasitifera became the dominant species (70 % relative abundance) and appeared to be an "opportunistic" species to PAH contamination while Oncholaimus campylocercoides and Neochromadora peocilosoma were strongly inhibited. Biostimulation (addition of mineral salt medium) and bioaugmentation (inoculation of a hydrocarbonoclastic bacterium) were used as bioremediation techniques. Bioremediation treatments enhanced degradation of all three PAHs, with up to 96 % degradation for phenanthrene resulting in a significant stimulation of nematode abundance relative to control microcosms. Nevertheless, these treatments, especially the biostimulation provoked a weak impact on the community structure and diversity index relative to the control microcosms suggesting their feasibility in biorestoration of contaminated sediments.