Factors predictive of prognosis of infantile spasms. A retrospective study in a low-income country.

PURPOSE: To describe the management of infants with epileptic spasms (ESs) in a low-income country and identify factors predictive of their prognosis. MATERIAL AND METHODS: We conducted a retrospective study in a university hospital in Tunis, Tunisia, over a period of 10 years. We included infants with recurrent ESs. RESULTS: Thirty-eight patients were included. The median age at onset of ESs was 5 months. Typical hypsarrhythmia was found in 21 patients (55%). Brain MRI was done in 32 patients (84%) and metabolic work-up in 34 patients (89%). ESs were categorized as symptomatic in 58% of the patients. Vigabatrin was prescribed as the first-line drug in almost half of the patients. At the last follow-up, 63% of the patients were seizure-free and 82% had a psychomotor delay. The presence of other types of seizures was associated with uncontrolled epilepsy at the last follow-up (P=0.020). The persistence of spasms after the first-line treatment was associated with abnormal final psychomotor development (P=0.047). CONCLUSIONS: Investigation practices and final outcomes of our patients were comparable to data from high-income countries. Treatment practices have been standardized to be in line with international guidelines.

Involvement of the IL23/Th17 Pathway in the Pathogenesis of Tunisian Pemphigus Foliaceus.

Pemphigus foliaceus (PF) is a rare autoimmune skin disease caused by anti-Dsg1 pathogenic autoantibodies. It is considered as a Th2-mediated disease. Likewise, Th17 cells were recently described in the pathogenesis of the disease but their role is still unclear. We aimed to unravel the eventual implication of the IL23/Th17 pathway in the development of PF. A case-control study was conducted on 115 PF patients and 201 healthy controls using PCR-RFLP and AS-PCR methods. SNPs in IL23R, RORγt, IL17A, IL17F, IL17AR, TNFa, and STAT3 genes were genotyped. mRNA expression of IL23R and RORγt was evaluated using Q-PCR. The frequency of circulating Th17 cells was analyzed by flow cytometry. Genetic associations between IL23R>rs11209026, IL17A>rs3748067, IL17F>rs763780, and TNFa>rs1800629 and the susceptibility to PF were reported. Moreover, we revealed a significant increased frequency of circulating CD4+IL17+ cells as well as higher mRNA levels of RORγt and IL23R in PBMCs of patients. However, no significant increase of RORγt and IL23R mRNA expression was observed in lesional skin biopsies. In spite of the little size of specimens, our results provide converging arguments for the contribution of the IL23/Th17 pathway in the pathogenesis of PF.

[Non-Hodgkin lymphoma of maxillofacial soft tissue: a report of two cases and review of the literature]. / Lymphomes non-hodgkiniens des tissus mous maxillofaciaux : à propos de deux cas et revue de la littérature.

The extranodal non-Hodgkin lymphomas of maxillofacial soft tissues are rare. We report two cases of maxillofacial soft tissue non-Hodgkin lymphoma treated with chemotherapy followed by localized radiotherapy with complete remission after 3 and 6 months. We study the clinical, radiological and histopathological features as well as the treatment and the prognosis of extranodal non-Hodgkin lymphomas maxillofacial muscles.

Biomarkers of oxidative stress in epidermis of Tunisian pemphigus foliaceus patients.

BACKGROUND: Reactive oxygen species play a key role in the development of many dermatological disorders. OBJECTIVE: The purpose of this study is to examine the lipid peroxidation, protein oxidation and antioxidative profile in Tunisian pemphigus foliaceus (PF) patients. METHODS: Malondialdehyde (MDA), conjugated dienes (CD), protein thiol levels, catalase (CAT) and superoxide dismutase (SOD) activities were evaluated in skin biopsies of 13 patients compared to biopsies of 7 healthy controls. RESULTS: Oxidative stress was confirmed in these three types of patient biopsies as compared to controls. Thus, MDA, CD levels and catalase CAT and SOD activities were significantly increased in lesional, perilesional and normal biopsies of PF patients than in those of control subjects. Protein oxidative was confirmed by lower levels of protein thiols in lesional, perilesional and normal biopsies than in control's biopsies. Otherwise, in patients, a significant rise of these biomarkers was observed in lesional and perilesional biopsies compared with normal biopsies. CONCLUSION: This study shows that oxidative stress could be involved in the pathogenesis of PF by the spread of skin lesions and/or by the increase in auto-antibodies' reactivity.

[Hamartoma of the palate: case report and review of literature]. / Hamartome du palais: à propos d'un cas avec revue de la littérature.

INTRODUCTION: A hamartoma is a benign tumor-like malformation, often taking the form of vascular malformation such as hemangiomas and lymphangiomas; hamartoma composed of other tissue types are much rarer in the oral cavity, exceptionally reported in the palate. We report herein a new case of palatal hamartoma. Our aim is to describe the epidemiological, clinico-pathologic and therapeutic features of this lesion. OBSERVATION: A 53-years-old woman had a painless mass located on the right hard palate, measuring 2×1.5 cm of diameter, the mass was elastic with a smooth surface. On imaging, this mass was well-circumscribed, homogenous with moderate enhancement and thinning of the bone. A surgical excision was performed. Histological examination showed an ill-defined mass composed of hyperplasic salivary gland, nerve fibers, blood vessels and adipose tissue. According to these findings, the palatal lesion was interpreted as hamartoma. CONCLUSION: The palatal hamartoma can mimic clinically a malign neoplasm; its diagnosis is histological. Its treatment is essentially surgical. The prognosis is usually favorable without recurrence.

[Maxillary sinusitis of odontogenic origin: surgical treatment]. / Sinusites maxillaires d'origine dentaire : traitement chirurgical.

PURPOSE: The frequency of maxillary sinusitis of dental origin (MSDO) is under estimated. The medical and surgical treatment has improved thanks to endoscopic guidance. We report our experience and strategy in the treatment of MSDO. PATIENTS AND METHODS: Twenty-two patients presenting with MSDO were treated between 1998 and 2008. The results were evaluated on clinical, functional, sinusal, and odontologic signs. RESULTS: MSDO accounted for 16% of surgically managed sinusitis. CT was performed in 95% of cases. The etiologies were apical leakage in seven patients, migration of a tooth or root during extraction, or presence of ectopic tooth in the sinus in nine patients, a cyst in three patients, and oroantral communication in three patients. Surgery was performed after antibiotic and NSAID treatment. The first surgical step was the treatment of the odontogenic source. The second step was sinus drainage by endoscopic treatment in 64%, Caldwell-Luc in 23%, and drainage by oroantral communication enlarged then closed in the same operative time in 13%. The follow up ranged from 3 months to 10 years. Early postoperative superinfection was observed in two patients. Two patients presented with recurrent sinusitis. The postoperative sequels were hyposmia in three patients, dental pulpotomy, and trigeminal neuralgia in five patients treated by Caldwell-Luc surgery. DISCUSSION: Nasal endoscopy has improved the surgical management of MSDO. It makes curettage and exclusion of sinus cavities obsolete. It is reliable and has a low rate of complications. The best treatment remains prevention.

[Primary choriocarcinoma of the maxillary gingival]. / Choriocarcinome gingivo-mandibulaire primitif.

INTRODUCTION: Primary non-gestational extragonadal choriocarcinomas are uncommon and their head and neck localization more exceptional. OBSERVATION: We report on a primary choriocarcinoma case of the mandibular gingivae in a 26-year-old woman who presented with pulmonary and renal metastasis. Complete response (clinical, biological and radiological) was achieved with combined chemotherapy according to APE regimen associating actinomycin, cisplatin and etoposid. The patient was free of disease 4 years after therapy completion. DISCUSSION: Primary gingival mandibular choriocarcinoma is very rare. Clinical presentation is atypical; diagnosis is based on histopathological examination and positivity for HCG. Our case report showed high chemo-sensitivity and comparable outcome to the other localizations.

[Rosai-Dorfman disease: therapeutic issues in 2 cases]. / La maladie de Rosai - Dorfman : enjeux thérapeutiques à propos de 2 observations.

Rosai-Dorfman disease (RDD) is a benign lymphoproliferative disorder characterized by cervical lymph node enlargement with a consistent risk of airway compression and esthetic damage. Extranodal localizations are also described. There is no therapeutic consensus for pediatric forms of RDD. Through 2 pediatric cases with nodal involvement in 1 patient and a sinonasal and soft tissue localization in the other, we focus on the management problems of both nodal and extranodal RDD.

[Nasal dermoïd cyst with intracranial extension: which approach?]. / Kyste dermoïde nasal avec extension intracrânienne: quelle voie d'abord?

Dermoïd cyst is the most common midline congenital nasal tumor. Intracranial extension is rare but possible, must be suspected and confirmed by a cerebral magnetic resonance imagining (MRI). Only total surgical removal via a combined intracranial/extracranial approach appears to provide a complete resolution and effective protection against late recurrence. We report a case of a 2 years old patient who was operated for a nasal congenital cyst extending to the nasal septum. Anatomopathology showed a dermoïd cyst. Five years later, he presented local recurrence of the dermoïd cyst with intracranial extension through a bifid crista galli. We conclude that to avoid recurrence, the removal of the nasal cyst and sinus tract must be followed to its dural attachment. A transfacial approach can be associated with frontal craniotomy, which can provide adequate exposure for complete removal of the intracranial component of the cyst and sinus tract. A literature review was performed.

[Radiotherapy for cutaneous cancers with xeroderma pigmentosum]. / Radiothérapie des cancers cutanés au cours du xeroderma pigmentosum.

PURPOSE: To analyze the therapeutic results of cutaneous cancers on xeroderma pigmentosum through a series of 15 patients treated by radiotherapy. PATIENTS AND METHODS: Between 1993 and 2006, 15 patients with xeroderma pigmentosum and having cutaneous cancers were treated in the Radiotherapy Department of university hospital Habib-Bourguiba of Sfax in Tunisia. Seventy-three percent of the cases occurred in male patients and the mean age of appearance of the first tumour was 18.2 years. Tumour histology was squamous cell carcinoma in 74% of the cases. The total number of cutaneous tumours was 84. Ten patients had a surgical resection. Four patients did not respond to chemotherapy. The modality of irradiation was decided according to the size, thickness and localization of the tumour. The dose of radiotherapy was 60Gy or equivalent with classic irradiation. RESULTS: The total number of lesions treated with radiotherapy was 64. Forty-three lesions were treated with contact therapy, ten with brachytherapy and 11 with cobalt therapy. The following acute complications were observed: cutaneous infection (53.3% of patients), radioepithelite (80% of patients) and necroses (33.3% of patients). Evaluation after treatment showed a clinical complete remission in 73% of the cases. Late effects were noted in seven cases: telangiectasy and cutaneous atrophy. A recurrence in the irradiated zone was observed in one case. A nodal metastasis was observed in two cases. Another patient presented lung metastases. After a median follow up of 37.2 months, four patients died, seven are alive with cutaneous cancer and four are alive with complete remission. CONCLUSION: Radiotherapy is a possible and effective therapeutic alternative. Dose and methods are not defined for xeroderma pigmentosum.

The formation of green rust induced by tropical river biofilm components.

In the Sinnamary Estuary (French Guiana), a dense red biofilm grows on flooded surfaces. In order to characterize the iron oxides in this biofilm and to establish the nature of secondary minerals formed after anaerobic incubation, we conducted solid analysis and performed batch incubations. Elemental analysis indicated a major amount of iron as inorganic compartment along with organic matter. Solid analysis showed the presence of two ferric oxides ferrihydrite and lepidocrocite. Bacteria were abundant and represented more than 10¹¹ cells g⁻¹ of dry weight among which iron reducers were revealed. Optical and electronic microscopy analysis revealed than the bacteria were in close vicinity of the iron oxides. After anaerobic incubations with exogenous electron donors, the biofilm's ferric material was reduced into green rust, a Fe(II)-Fe(III) layered double hydroxide. This green rust remained stable for several years. From this study and previous reports, we suggest that ferruginous biofilms should be considered as a favorable location for GR biomineralization when redox conditions and electron donors availability are gathered.

[Risk factors for recurrence of maxillary odontogenic keratocysts]. / Les facteurs de risque de récidive des kératokystes odontogéniques des maxillaires.

PURPOSE: The odontogenic keratocyst is a benign tumor with a high recurrence rate and aggressive behavior. We analyzed the risk factors for recurrence of odontogenic keratocysts and compared our results to published ones. PATIENTS AND METHODS: Thirty-two patients (36 odontogenic keratocysts) were treated in our department between 1996 and 2006. We retrospectively analyzed recurrence according to anatomoclinic, histopathological, and prognostic parameters. RESULTS: The patients' mean age was 41 years. The sex ratio was 1.28 with male predominance. The mandible was the most common site (30 cases). The most common radiological finding was a unilocular cyst in 75 % of cases. The primary treatment was conservative surgery for all patients. Twelve recurrences were observed in eight patients between 2 and 10 years of follow-up. All recurrences occurred in the mandible with 41 % in the angle and ramus. Multilocular cysts recurred in 55 % of cases, unilocular in 11 %. The recurrence rate of orthokeratocysts was 40 %. The presence of satellite cysts and extension to soft tissues were associated with a high rate of recurrence (60 %). Sixty-six percent of infected cysts recurred and among these, eight were enucleated in several fragments. DISCUSSION: The recurrence rate of odontogenic keratocysts is higher in case of mandibular posterior region localization and multilocular keratocysts. This might be explained by the difficult surgical accessibility. Some histological findings including the presence of satellite cysts and orthokeratocysts are associated with a higher recurrence rate. Cyst infection and treatment modalities influence the recurrence rate.

[Mandibular desmoplastic fibroma: diagnosis and therapeutics difficulties]. / Fibrome desmoïde mandibulaire : difficultés diagnostiques et thérapeutiques.

INTRODUCTION: The desmoplastic fibroma is a rare bone tumor, characterized by aggressive local infiltration, with frequent recurrence. The most common site is the mandible. Radioclinical signs are not specific and the histological diagnosis may be difficult. CASE: A 16 year-old male patient consulted for a painless and hard left mandibular swelling, without inferior alveolar nerve disorders. The tumor extended from tooth 31 to tooth 35, the mucosa was healthy. The panoramic view showed a multilocular osteolytic lesion with dental root resorption. CT scan showed expansion of bony cortex with rupture of the outer cortical. The biopsy indicated a desmoplastic fibroma or a fibrosarcoma. A second histological analysis combined with an immuno-histochemical study proved the diagnosis of desmoplastic fibroma. DISCUSSION: The desmoplastic fibroma has a polymorphous symptomatology. Radiological signs are unspecific. Anatomopathology combined with immuno-histochemistry can prove the diagnosis and guide the treatment.

Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease.

The natural history and clinical presentation of the perinatal-lethal Gaucher's disease, a severe variant of acute type 2 Gaucher's disease, is quite different from classic type 2 Gaucher's disease. Rare reported patients had an overlapping phenotype between these two forms confirming that phenotyping may be difficult. Here we report three patients with an intermediate phenotype. The first two patients showed at birth cholestatic jaundice, hepatosplenomegaly and hematological involvement consistent with hemophagocytosis in one patient, the death occurred from a severe liver involvement in one and lung disease in the second in the absence of neurological symptoms. The third patient displayed ichthyosis and facial dysmorphism but with neurological degeneration course and survival consistent with classic type 2 Gaucher's disease.

[Congenital generalized lipodystrophy: a case report with neurological involvement]. / Lipodystrophie congénitale généralisée de type 1 avec atteinte neurologique.

Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by near complete absence of adipose tissue from birth. At least 2 genes located in 9q34 (AGPAT2) and 11q13 (Seipin) are implicated in type 1 and 2, respectively, and result in insulin resistance. We report here a novel case of CGL type 1 resulting from a novel homozygote mutation in the AGPAT2 gene. The clinical picture included pseudoathletic muscular hypertrophy, hypertrophic cardiomyopathy, enlarged liver, hypermetabolism rate, and hyperinsulinemia in a 1-year-old child from Libya. Peripheral hypertonia and reflex excitability revealed signal abnormalities in white matter on magnetic resonance imagery, which has not been described previously in the literature.

[Atypical presentation of Wegener disease in childhood]. / Présentation atypique de la maladie de Wegener de l'enfant.

The pediatric forms of Wegener granulomatosis (WG) are rare. The clinical picture and the profile have specificities compared to those of adults. We report a case of a girl aged of four years and a half who presented initially with a clinical picture of Henoch Schönlein purpura. Physical examination revealed additionally to purpura, scabby lesions on the buttocks. The histopathological examination of a skin biopsy disclosed histiocyte infiltration. There were no Ig A deposits on direct immunofluorescence study. One year later, the diagnosis of WG was suspected, when the patient developed a respiratory problem related to left pulmonary infarction. Screening for thromboembolic factors was positive for antiphosphilipid antibodies. Diagnosis of WG was confirmed by the histopathological study lung tissue and a significant titre of serum ANCA. Blood tests failed to provide evidence of renal involvement. Cyclophosphamide and prednisolone therapy was administrated. A relapse occurred one year later on the controlateral lung; but no biological marker of disease activity could be detected.

Phenotypic spectrum of fucosidosis in Tunisia.

Fucosidosis (OMIM 230000) is a rare autosomal recessive lysosomal disorder due to deficient α-L-fucosidase activity(EC 3.2.1.51), leading to the accumulation of fucose-containing glycolipids and glycoproteins in various tissues. This study contained the largest ever Tunisian survey of fucosidosis patients, diagnosed during the period 1987-2007. The clinical pictures and outcomes of these patients are compared with literature data. Ten patients (8 boys and 2 girls) from six unrelated families were diagnosed at a mean age of 29 ± 10.3 months. Six of the patients were diagnosed as having the more severe phenotype. The other four cases presented the low progressive phenotype. This distinction was determined by the presence or absence of angiokeratoma and age of death. For all of the patients in our survey, early motor development was more severely delayed than described in the literature. Six patients presented psychomotor decline during the second year of life. Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9 cases), visceromegaly (3 cases), angiokeratoma corporis diffusum (4 cases), recurrent bronchopneumonias (all cases), seizures (4 cases) and variable degrees of dysostosis multiplex (all cases). Portal cavernoma, never described in the literature, was observed in one patient. The outcomes were severe in this survey, probably owing to restricted health care; death occurred in 6 of the 10 patients before age 10 years, following recurrent pulmonary infections and neurological deterioration. No intrafamilial variability was noted in the multiplex families. The clinical presentation and outcomes of some of these patients were consistent with the continuous clinical spectrum of severity in fucosidosis attested by most clinical studies.

[Granular cell tumor]. / Tumeur à cellules granuleuses.

The granular cell tumor (GCT) or Abrikossoff tumor is a neurogenic tumor often benign with a predominant cervicofacial localization. The mean age of onset ranges between 40 and 60 years of age. Female patients are twice more affected. It is a rare tumor (0.019 to 0.03% of all tumors). The prognosis is usually favorable after surgical excision. The histological aspect is usually specific. Nevertheless, the tumor may be mistaken for a malignant one, especially in case of shallow biopsy. The neurogenic markers and staining by periodic acid Schiff (PAS) help to make the diagnosis. The malignant forms with typical recurrence and metastases are extremely rare and require a wide excision.