S. Ben Ameur

Fulminant mulch pneumonitis in a previously healthy child

Chronic granulomatous disease (CGD) is associated with multiple and recurrent infections. In patients with CGD, invasive pulmonary infection with aspergillus species remains the greatest cause of mortality. Acute fulminant presentations of fungal pneumonia are catastrophic. It is a medical emergency, and currently the treatment is based on association of corticosteroids and antifungal therapy. We describe the case of an 11-year-old boy, with late initial presentation of CGD, which was revealed by fulminant aspergillus pneumonia. He was successfully treated with an association of high doses of steroids and voriconazole.

Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings

Transient neonatal diabetes mellitus is a rare disease usually associated with chromosome 6 abnormalities. Mutations of the genes encoding the potassium channel are rarely associated with these transitional forms. Herein, we report the clinical features of two siblings with a heterozygous mutation C679 G>A in the KCNJ11 gene.

Familial haemophagocytosis lymphohisticytosis type 3: A case report

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive disorder of immune regulation. Here, we report on a fatal case of type 3 FHL (FHL3) in a 45-day-old boy. Clinically, the infant presented with fever and hepatosplenomegaly. Biology showed pancytopenia, elevated ferritin, and decreased fibrinogen. Images of hemophagocytosis were found at the bone morrow examination. The diagnosis of FHL type 3 was made by the identification of homozygous mutation in the Munc13-4 gene (UNC13D) located in exon 20: 1822 del 12bp (V608fs). This mutation was previously observed in a Tunisian and in Moroccan families.

Macrophagic activation syndrome related to an infection by Rickettsia conorii in a child.

Since the Arab Spring, a resurgence of zoonotic diseases such as rickettsiosis, endemic in the Mediterranean basin, has been observed. It preferentially infects microvascular endothelial cells of mammalian hosts inducing vasculitis with endothelial injury. Rickettsioses are considered benign infectious diseases. Severe systemic manifestations have been reported and are often explained by a delay in diagnosis. We present a case of hemophagocytic syndrome occurring in a 4-year-old Libyan girl as a complication of Mediterranean spotted fever. Rickettsial infection was confirmed by serology and the patient was treated with clarithromycin, with a favorable outcome.

Pleurésie à bascule : est-ce une tuberculose ?

Pleural tuberculosis is the first or second most common form of extrapulmonary tuberculosis as well as the main cause of pleural effusion in many countries. It is rare in young infants and is more common in children over 10 years of age. We report the case of a 19-month-old girl admitted for prolonged fever with unilateral pleural effusion. The mother reported a history of lymph node tuberculosis 6 years previously. Intravenous antibiotics with cefotaxime and vancomycin were started. Thoracocentesis yielded a serosanguinous exudate fluid with a lymphocyte predominance. The tuberculin skin test and PCR GeneXpert(©) on pleural fluid were negative. The initial outcome was favorable, but the chest X-rays 10 days after discharge showed bilateral pleural effusion. Pleural biopsy was proposed but the culture of pleural fluid was positive for Mycobacterium tuberculosis. The child was put under standard treatment for tuberculosis. The outcome was favorable.

Chylomicron retention disease: A rare cause of chronic diarrhea.

Chylomicron retention disease (CRD) is a rare autosomal recessive hereditary hypocholesterolemic disorder. The disease most frequently presents in infants and is characterized by a lipid malabsorption syndrome with steatorrhea, chronic diarrhea, and growth retardation. The disease is characterized by normal fasting serum triglyceride levels combined with the absence of apolipoprotein (apo) B48 and chylomicrons after a fat load. In this report, we describe the clinical, laboratory, and histological data as well as the molecular DNA analysis of a 12-month-old girl from Tunisia with CRD. The patient was treated with a low-fat diet and fat-soluble vitamin supplementation resulting in significant improvement.

Management of cholestatic pruritus in children with Alagille syndrome: Case report and literature review

Alagille syndrome causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol. Drug therapy in addition to surgical intervention may be effective in many patients in reducing serum bile acids, cholesterol levels, pruritus, and skin xanthomas. In this report, we describe a child with Alagille syndrome who presented with severe pruritus and xanthomas as a consequence of severe hypercholesterolemia and discuss the treatment modalities.

SFP P-074 – Polyradiculonévrite aiguë primitive de l’enfant à propos de 20 cas

Objectifs Etudier les caracteristiques epidemiologiques, cliniques, electromyographiques, evolutives et therapeutiques du syndrome de Guillain-Barre (SGB). Patients et Methodes Etude retrospective, descriptive a propos de tous les cas de SGB colliges au service de pediatrie de CHU Hedi Chaker de Sfax durant une periode de 12 ans (2002–2013). Resultats L’âge moyen des malades etait de 4 ans 6 mois avec un sexe ratio de 1,2. Des manifestations prodromiques infectieuses ont ete observees dans 15 cas. Le deficit musculaire ainsi que l’areflexie osteotendineuse ont ete retrouves dans tous les cas. Une dissociation albuminocytologique etait notee dans 16 cas. Les manifestations electromyographiques etaient : une atteinte axonale dans 3 cas, axonomyelinique dans 5 cas et myelinique dans 12 cas. Le traitement specifique a base d’immunoglobulines polyvalentes intraveineuses a ete prescrit chez 15 malades. Une recuperation avec guerison totale etait observee chez 19 patients. Un malade est decede suite a une atteinte respiratoire. Conclusion L’evolution du syndrome de Guillain Barre le plus souvent favorable. La complication la plus redoutable est l’insuffisance respiratoire aigue.

SFP P-153 - Les hernies diaphragmatiques congénitales à révélation tardive: étude de 14 observations

Objectif Etudier les aspects epidemiologiques, diagnostiques, therapeutiques et evolutifs des hernies diaphragmatiques congenitales (HDC) a revelation tardive. Patients et methodes etude retrospective d’une serie de 14 cas d’HDC arevelation tardive colliges entre 01/01/1984 et 31/12/2013. Ont ete inclus les enfants âges de plus que 4 semaines presentant une HDC. Resultats il s’agissait de 8 garcons et 6 filles. L’âge moyen au moment du diagnostic etait de 15 mois avec des extremes de 47 jours et 3ans et demi. Les circonstances de decouverte etaient une detresse respiratoire dans 9 cas, une douleur abdominale avec toux dans 4 cas et fortuite dans 1 cas. La radiographie thoracique etait suggestive du diagnostic dans 12 cas. Treize patients etaient operes ; l’exploration per-operatoire a trouve 9 hernies de BOCHDALEK et 3 hernies de LARREY. L’evolution etait favorable dans 12 cas. Une recidive de l’HDC etait notee dans 1 cas. Nous avons deplore 2 deces dans un tableau d’hypoxemie refractaire. Conclusion L’HDC a revelation tardive est une pathologie de bon pronostic en raison d’une part de la presence du sac herniaire facilitant la reintegration des visceres abdominaux et d’autre part de la rarete de l’hypoplasie pulmonaire associee.

SFP P-021 - Les Rachitismes vitaminorésistants pseudocarentiels Etude de 9 observations

Objectif Etudier les aspects cliniques, biologiques, radiologiques et therapeutiques des rachitismes vitamino-resistants (RVR)pseudo-carentiels. Patients et methodes Etude descriptive des cas de RVR pseudo-carentiels colliges dans notre service durant la periode(2008–2013). Resultats Nous avons collige 9 cas:RVR type I(2cas) et type II (7cas). L’âge moyen du diagnostic etait de 2ans. L’examen a montre des signes de rachitismes (9cas), retard psychomoteur (8 cas), alopecie(6 cas), et deformation thoracique (6 cas). Le taux de 25-OHD etait normal dans tous les cas. Le taux de 1,25(OH)2D plasmatique etait bas (2cas) confirmant le diagnostic de RVR type I et elevee(7 cas) en rapport avec RVR type II. Tous nos patients ont beneficie d’une correction de l’hypocalcemie par vois parenterale relayee d’un apport calcique par voie orale et d’un apport d’unalpha (2–12μg/j). Quatre patients avec RVR type II et alopecie recoivent des perfusions calciques de facon reguliere. Apres un recul de 19mois, une amelioration de la marche et des deformations osseuses a ete notee dans 5 cas. Deux patients sont decedes par pneumopathie severe sur poumon rachitique. Conclusion Les RVR resultent d’anomalies genetiques du metabolisme phosphocalcique et sont plus frequente dans nos populations.