I. Chabchoub

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.

Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

Background: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by the early onset of rickets and is caused by mutations in the vitamin D receptor (VDR) gene. Some HVDRR patients also have alopecia. Patients and Methods: We retrospectively studied the clinical features, laboratory findings, genetic defects, as well as responses to treatment in a series of children with HVDRR. Results: Eight patients from 7 families met the inclusion criteria. Alopecia was noted in 7 patients. Two different homozygous mutations in the VDR gene were identified in 6 patients: the p.K45E mutation located in the DNA-binding domain (5 patients with alopecia) and a novel p.T415R mutation located in the ligand-binding domain. A p.E143del CYP24A1 mutation, in the gene encoding the 25-hydroxyvitamin D3-24-hydroxylase, was identified in 2 brothers carrying the VDR gene mutation p.K45E. Six patients were treated with intermittent intravenous calcium treatment via the peripheral route with a clear improvement in 5 cases. Conclusion: To the best of our knowledge, this is the first major series reporting on HVDRR in Tunisia. The same mutation (p.K45E) was found in 5 apparently unrelated affected individuals. We have also extended the mutation spectrum by studying 1 novel VDR mutation.

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.

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.

Occipital dermoid cyst associated with dermal sinus complicated with meningitis: A case report.

BACKGROUNDnOccipital dermal sinus, usually associated with dermoid cyst, is a rare entity; it results from the persistence of an abnormal embryonal communication between the skin and the intradural space. Its main complication is intracranial infection.nnnCASE DESCRIPTIONnThis 2-year-old girl was hospitalized for meningitis. Neuroradiological studies revealed a cystic mass of the posterior fossa communicating with the skin and hydrocephalus. The diagnosis of dermoid cyst associated with dermal sinus was established at surgery. The patient was treated with radical excision of both the occipital cyst and the dermal sinus associated with systemic antibiotic therapy. She had a good outcome.nnnCONCLUSIONnPosterior fossa dermoid cyst should be considered in all children with chronic occipital skin lesion, especially a dermal sinus. We emphasize the importance of early neurosurgical treatment of dermoid cysts to prevent the development of severe complications.

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.

PO-0043 Classic Infantile-onset Pompe Disease: A Study Of 8 Cases

Introduction Classic infantile pompe disease is an autosomal recessive inherited disorder caused by a deficiency of alpha 1–4 glucosidase, resulting in accumulation of glycogen in skeletal muscle and heart. It’s characterised by hypotonia, cardiomegaly and hypertrophic cardiomyopathy, feeding difficulties and respiratory distress, all patients died in the first year of life. Patients and methods A retrospective study of cases of classic infantile pompe disease collected in the Department of Paediatrics, Hospital Hedi Chaker, Sfax over a period of 7 years (2008–2013). Results During the study period we collected 8 cases of the disease. The average age at diagnosis was 3 months and 6 days. All patients were eutrophic. Hypotonia was noted in all cases, Respiratory distress in seven cases, cyanosis in 4 cases and a systolic murmur in 5 cases. Hepatomegaly was constant, macroglossia was noted in one patient. Chest radiography showed cardiomegaly in all cases. Electrocardiogram, showed electrical signs of left ventricular hypertrophy, wide QRS complex, a shortening of the PR interval was seen in 4 cases. Echocardiography confirmed diagnosis of hypertrophic cardiomyopathy. The dosage of acid maltase activity practiced in 5 patients, showed no enzyme activity. The genetic study of 4 patients showed a mutation in the homozygous state of the GAA gene. Treatment was purely symptomatic involving propranolol, oxygen and antibiotics. All patients died. Conclusion The fatal evolution of the classic infantile form of Pompe disease is being changed by the advent of enzyme replacement therapy wich significantly increased the survival of these patients.

PO-0542 Congenital Rubella Still Exists In Tunisia

Background and aims Congenital rubella is a rare and serious disease including auditory, neurological, cardiac, urinary, and ocular abnormalities. Aims remind the gravity of the rubella seroconversion during pregnancy and the necessity of its prevention. Methods We report a retrospective analysis of 21 cases of congenital rubella, confirmed by serology, followed in paediatric and neonatology department between 2004 and 2013. Results The average age of diagnosis was 21 days. Maternal rubella immune status was unknown in 10 cases. Seroconversion was noted in 7 cases, a patient had a residual immunity and a skin rash arisen during the pregnancy was noted in 5 cases. At birth 16 patients had intrauterine growth retardation, leukokoria (6 cases), cardiac breath (9 cases), facial dysmorphy (7 cases) and genital anomalies (4 cases). The ophthalmologic examination showed: bilateral cataract (4 cases), unilateral cataract (2 cases), glaucoma (1 case) and a case of bilateral corneal dystrophy. The biology showed 5 cases of thrombopenia. The cardiac sonography showed cardiac defects in 11 cases, with variable anomalies mainly patent ductus arteriosus (7 cases) and pulmonary stenosis (4 cases). The hearing evoked potential showed a bilateral deafness in 2 cases. The outcome was unfavourable with death in 3 cases, retarded growth associated with a psychomotor delay in 6 cases. Conclusion The persistence of congenital rubella syndrome in our country shows the necessity of including rubella immunisation in the routine national immunisation program, especially in developing countries.