Lamia Boughamoura

Un syndrome de Fahr révélateur d'une pseudohypoparathyroïdie

Fahr syndrome is defined by the presence of striopallidal notched bilateral and symmetric calcifications at the base of the skull. We report an observation of a 12-year-old girl who presented gait impairment, seizures, somnolence and aphasia. Brain computed tomodensitometry identified intracranial calcifications. The tests demonstrated pseudohypoparathyroidism.

Traitement du syndrome d’activation macrophagique sévère associé à une leishmaniose viscérale

The association of hemophagocytic syndrome (HS) and visceral leishmaniasis is a frequent disorder during infancy in endemic areas such as Tunisia. The range of severity of HS secondary to visceral leishmaniasis includes both pure biological forms that resolve with antimicrobial therapy and life-threatening emergencies that require specific treatment. We describe 2 cases of severe HS secondary to visceral leishmaniasis. The diagnosis of HS was based on the HLH-2004 diagnostic criteria. Therapy involved pentavalent antimonial (Glucantime) in both cases. The combination of corticosteroids with immunoglobulins, used in the 1st case, but introduced late, led to an unfavorable course and death. In the 2nd case, the specific treatment of HS was based on immunochemotherapy including etoposide and corticosteroids. Progression was favorable with a follow-up of 24 months. Etoposide containing therapeutic regimens can be proposed in severe forms of HS associated with visceral leishmaniasis.

Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive neurometabolic disorder characterized essentially by the presence of elevated levels of L-2-hydroxyglutaric acid (LGA) in plasma, cerebrospinal fluid and urine. L2HGA is caused by a deficiency in the L2-Hydroxyglutaric dehydrogenase (L2HGDH) enzyme involved in the oxidation of LGA to the alpha 2-ketoglutarate. LGA has been proposed as an endo- and exogenous cytotoxic organic acid that induces free radical formation and generation of reactive oxygen species (ROS). In this report, we analyzed 14 L2HGA patients belonging to six unrelated consanguineous families the south of Tunisia. The patients were diagnosed with L2HGA disease confirmed on the presence of high level of LGA in urine. We analyzed the L2HGDH gene in all probands and identified the same c.241A>G homozygous mutation, which was previously reported in Tunisia. We also used intragenic single nucleotide length polymorphisms (SNPs) and two extragenic microsatellites flanking the L2HGDH gene to confirm the founder effect of c.241A>G mutation in the 14 studied cases. In addition, we carried out the measurement of the oxidative stress parameters in the plasma of L2HGA patients which revealed a significant increase in the malondialdehyde levels (MDA), a biomarker of lipid peroxydation, and the reduced glutathione (GSH). A diminution of the antioxidant enzyme activities including superoxide dismutase (SOD), glutathione peroxidase (GPx), was also observed.

Epidemiology and clinical profile of pathogens responsible for the hospitalization of children in Sousse area, Tunisia

This study aimed to identify a broad spectrum of respiratory pathogens from hospitalized and not-preselected children with acute respiratory tract infections in the Farhat Hached University-hospital of Sousse, Tunisia. Between September 2013 and December 2014, samples from 372 children aged between 1 month and 5 years were collected, and tested using multiplex real-time RT-PCR by a commercial assay for 21 respiratory pathogens. In addition, samples were screened for the presence of Streptococcus pneumoniae 16S rDNA using real-time PCR. The viral distribution and its association with clinical symptoms were statistically analyzed. Viral pathogens were detected in 342 (91.93%) of the samples of which 28.76% were single positive and 63.17% had multiple infections. The most frequent detected viruses were rhinovirus (55.64%), respiratory syncytial virus A/B (33.06%), adenovirus (25.00%), coronavirus NL63, HKU1, OC43, and 229E (21.50%), and metapneumovirus A/B (16.12%). Children in the youngest age group (1–3 months) exhibited the highest frequencies of infection. Related to their frequency of detection, RSV A/B was the most associated pathogen with patient’s demographic situation and clinical manifestations (p<0.05). Parainfluenza virus 1–4 and parechovirus were found to increase the risk of death (p<0.05). Adenovirus was statistically associated to the manifestation of gastroenteritis (p = 0.004). Rhinovirus infection increases the duration of oxygen support (p = 0.042). Coronavirus group was statistically associated with the manifestation of bronchiolitis (p = 0.009) and laryngitis (p = 0.017). Streptococcus pneumoniae DNA was detected in 143 (38.44%) of tested samples. However, only 53 samples had a concentration of C-reactive protein from equal to higher than 20 milligrams per liter, and 6 of them were single positive for Streptocuccus pneumoniae. This study confirms the high incidence of respiratory viruses in children hospitalized for acute respiratory tract infections in the Sousse area, Tunisia.

Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes.

Abstract Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause cardiomyopathy and heart failure. These mutations were described in the mt-tRNA genes and in the mitochondrial protein-coding genes. The aim of this study was to identify the genetic defect in two patients belonging to two families with cardiac dysfunction associated to a wide spectrum of clinical phenotypes. The sequencing analysis of the whole mitochondrial DNA in the two patients and their parents revealed the presence of known polymorphisms associated to cardiomyopathy and two pathogenic mutations in DNA extracted from blood leucocytes: the heteroplasmic m.3243A > G mutation in the MT-TL1 gene in patient A; and the homoplasmic m.5182C > T mutation in the ND2 gene in patient B. Secondary structure analysis of the ND2 protein further supported the deleterious role of the m.5182C > T mutation, as it was found to be involved an extended imbalance in its hydrophobicity and affect its function. In addition, the mitochondrial variants identified in patients A and B classify both of them in the same haplogroup H2a2a1.

Stridor révélateur d’une duplication œsophagienne cervicale : à propos d’un cas

Esophageal duplications are rare malformations. They account for 15 to 20% of esophageal malformations. Duplications are cystic or, rarely, tubular. The location is thoracic in 95% of the cases. The clinical manifestations are mostly related to compression of the neighboring organs. Treatment is surgical. We report a case of esophageal duplication in a 22-month-old child; the major symptom was congenital stridor. The diagnosis of esophageal duplication was suspected at the chest computed tomography imaging study and confirmed after excision and pathologic examination.

Fistule et kyste épidermoïde naso-frontaux : à propos d’une observation

Nasofrontal fistula and epidermoid cyst: a case study Nasofrontal fistulas, also called nasofrontal dermal sinuses, are very rare and found for the most part in children. This congenital malformation may be revealed by local infection or neuromeningitis, making this a serious disorder. We report one case of nasofrontal dermal sinus diagnosed in an 11-month-old girl, which was complicated by left fronto-orbital infection. Through this case, the authors stress the role of imaging methods in confirming the diagnosis and looking for associated cysts (dermoid and epidermoid).

Une infection à mucormycose d’évolution favorable chez un enfant atteint d’ataxie télangiectasie

Introduction : l’infection a mucormycose est une infection fongique opportuniste cosmopolite rare et souvent fatale. Elle se situe au troisieme rang des infections fongiques profondes apres la candidose et l’aspergillose.

A propos d’une observation rare d’une tuberculose congénitale disséminée

Introduction : la tuberculose congenitale est une affection rare mais grave, caracterisee par la survenue de formes severes et souvent fatales.

Bécégite disséminée revélant un déficit immunitaire combiné sévère (SCID): à propos d’une observation

Introduction : la becegite disseminee est une infection grave par le bacille de Calmette et Guerinnon liee a la virulence du germe attenuee mais plutot a un terrain de deficit immunitaire sous-jacent. Methodes : nourrisson âgee de 3 mois, issu de parents non consanguins, sans antecedents pathologiques notables, hospitalise pour fievre prolongee avec des episodes de diarrhees glairosanglantes. A l’examen, il etait febrile, hypotrophe et œdematie avec une hepatosplenomegalie. Resultats : Le bilan inflammatoire etait positif associe a un syndrome d’activation macrophagique incomplet. L’enquete infectieuse initiale etait negative. L’echographie cardiaque etait normale. Une echographie abdominale a montre une hepatomegalie d’echo structure heterogene, siege de multiples nodules hyper echogenes infra centimetrique avec une splenomegalie homogene. Une TDM thoraco-abdomino-pelvienne a montre une hepatosplenomegalie nodulaire. Un myelogramme a ete fait revenu sans anomalies. L’evolution etait marquee par la persistance de la fievre avec installation a J10 d’hospitalisation de douleurs vives a la mobilisation des membres. Des radiographies ont montre des images osteolytiques diffuses au niveau du bassin et des extremites inferieures. La relecture du scanner TAP a montre de multiples lacunes osseuses vertebrales, du bassin, de la voute crânienne et des rochers. La scintigraphie osseuse a montre une hypercaptation de radiotraceur en regard des 1/3 inferieurs des tibias et des 1/3 inferieurs des femurs. La biopsie hepatique et osseuse a mis en evidence une infiltration par une mycobacteriose atypique. L’etude bacteriologique a revele la presence de bacilles acido-alcoolo-resistants dans le liquide de tubage gastrique et dans les specimens de foie et de l’os. Le diagnostic retenu etait une infection disseminee au bacille de koch ou une becegite generalisee. Il a ete mis sous une quadri-therapie anti-tuberculeuse a J19 d’hospitalisation. L’exploration de l’immunite etait en faveur d’un deficit immunitaire combine severe (SCID). L’evolution etait marquee par la persistance d’une fievre oscillante avec une visceromegalie plus marquee. A J 49 d’hospitalisation (J30 de traitement anti tuberculeux), il a presente une alteration de l’etat de conscience avec survenue de crises convulsives. La TDM cerebrale a montre l’aspect d’un tuberculome faisant 6,5mm. Une tuberculose resistante a ete, alors, suspectee d’ou l’ajout de la levofloxacine. Une greffe de moelle osseuse etait programmee mais l’evolution etait fatale. Le patient est decede a j58 d’hospitalisation dans un tableau d’etat de choc septique refractaire. Conclusion : l’histoire familiale evoquant un deficit immunitaire, chose qui n’a pas ete retrouvee chez notre patient, devrait soulever de longues discussions par rapport a la vaccination par des agents vivants attenues.