Marianne Majdalani

Mutational spectrum of cystic fibrosis in the Lebanese population

BACKGROUND Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians; it is however, considered to be rare in the Arab populations. Reports of the cystic fibrosis transmembrane regulator (CFTR) mutations from Arabs, especially from the Lebanese population, are limited. METHODS Twenty-two unrelated Lebanese families, with at least one child with CF, were studied. DNA extracts from blood samples of patients and parents were screened for CFTR gene mutations. RESULTS Eleven different mutations were identified. Of the 44 alleles studied, the most common mutations were: F508del (34%), N1303K (27%), W1282X (7%), and S4X (7%). Five mutations - not previously reported in the Lebanese population - were identified; these are: S549N, G542X, 2043delG, 4016insG, and R117H-7T. CONCLUSIONS The most common CFTR mutations in addition to five mutations not previously described in the Lebanese population were identified. Identification of CFTR mutations in the Lebanese population is important for molecular investigations and genetic counseling.

Goldenhar syndrome associated with prenatal maternal Fluoxetine ingestion: Cause or coincidence?

Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a complex, heterogeneous condition characterized by abnormal prenatal development of facial structures. We present the occurrence of Goldenhar syndrome in an infant born to a woman with a history of prenatal Fluoxetine ingestion throughout her pregnancy. Because this is the first reported case associating maternal Fluoxetine intake with fetal craniofacial malformations, a potential mechanism of injury is discussed. The propositus, a male born from nonconsanguinous parents, had facial asymmetry with right microtia and mandibular hypoplasia; he also had bilateral hypoplastic macula, scoliotic deformity of the thoracic spine, and ventricular septal defect. The mother was under treatment with Fluoxetine 20 mg/day prior to conception and maintained the same dosage throughout her pregnancy. The drug is a selective serotonin re-uptake inhibitor, the most widely prescribed for the treatment of depression. The occurrence of developmental aberrations may be caused by a profound serotonin receptor suppressive state in utero leading to aberrant clinical manifestations of the first and second branchial arches. Despite the very many limitations of case reporting of teratogenic events, it remains an important source of information on which more advanced research is based.

Intestinal polypoid arteriovenous malformation: unusual presentation in a child and review of the literature.

Aim:  We report a jejuno‐jejunal intussusception with a polypoid arteriovenous malformation as a lead point in a 12‐year‐old boy, presenting with lower abdominal pain and non‐bloody non‐projectile vomiting.

Cardiovascular disease biomarkers in patients with inborn errors of protein metabolism: a pilot study

BACKGROUND Limited data exist so far on cardiovascular disease biomarkers in patients maintained on a protein-restricted diet for inborn errors of protein metabolism. The present study aimed to analyse plasma cholesterol, lipoproteins, triglycerides and total homocysteine in patients with various inborn errors of protein metabolism in comparison with healthy controls. METHODS A cross-sectional study of cardiovascular disease biomarkers was conducted in a cohort of patients with inborn errors of protein metabolism: nine phenylketonuria, nine urea cycle defect, six branched chain organic acidaemia and two tyrosinaemia type I patients compared to 30 healthy controls. All patients were on a strict natural protein diet for a mean (SD) period of 5.37 (2.30) years (range 2-9 years). Dietary assessment, plasma cholesterol, triglycerides, lipoproteins and total homocysteine levels were obtained. RESULTS There were no significant differences in blood lipid studies and total homocysteine levels between patients and controls. CONCLUSIONS The results obtained in this pilot study suggest that cardiovascular disease biomarkers are not increased in patients with inborn errors of protein metabolism. This may be explained by the possible protective effect of a mono- and polyunsaturated fat rich Mediterranean diet. Additional studies with a larger number of patients are needed to confirm this finding.

The pattern of self-poisoning among Lebanese children and adolescents in two tertiary care centres in Lebanon

Aim: Self‐poisoning in childhood and adolescence is a major problem for health authorities all over the world. The objective of this study was to determine the pattern of self‐poisoning in Lebanese children and adolescents.

Novel percutaneous femoral arterial-transthoracic approach for closure of ascending aortic pseudoaneurysm with a septal occluder device in a child.

Ascending aortic pseudoaneurysms are a rare complication following cardiac surgery. Their traditional surgical management carries high morbidity and mortality, especially in patients with multiple comorbidities. Transcatheter closure of these pseudoaneurysms using a septal occluder device has been previously reported in adults as an alternative approach with fewer complications. We report the first case of a novel percutaneous femoral arterial-transthoracic approach for exclusion of an ascending aortic pseudoaneurysm with an Amplatzer atrial septal occluder device in a 9-year-old child with Takayasus arteritis.

Dubowitz syndrome: common findings and peculiar urine odor

Background Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, severe microcephaly, psychomotor retardation, hyperactivity, eczema, and characteristic dysmorphic facial features. Although many cases have been reported, the cause of this disease is still unknown. Case We present here the case of a Lebanese girl with Dubowitz syndrome in whom an unpleasant urine odor was persistently reported since birth. Conclusion Although Dubowitz syndrome has been largely described in the medical literature, this is the first time that a peculiar urine odor was reported. This case report adds a new and unusual feature to the numerous findings related to this rare polymorphous syndrome.

Dietary Zinc Intake and Plasma Zinc Concentrations in Children with Short Stature and Failure to Thrive.

Background: The burden of zinc deficiency on children includes an increased incidence of diarrhea, failure to thrive (FTT) and short stature. The aim of this study was to assess whether children with FTT and/or short stature have lower dietary zinc intake and plasma zinc concentrations compared to controls. Methods: A case-control study conducted at the American University of Beirut Medical Center included 161 subjects from 1 to 10 years of age. Results: Cases had a statistically significant lower energy intake (960.9 vs. 1,135.2 kcal for controls, p = 0.010), lower level of fat (30.3 vs. 36.5 g/day, p = 0.0043) and iron intake (7.4 vs. 9.1 mg/day, p = 0.034). There was no difference in zinc, copper, carbohydrate and protein intake between the 2 groups. The plasma zinc concentration did not differ between the cases and controls (97.4 vs. 98.2 μg/dl, p = 0.882). More cases had mild-to-moderate zinc deficiency when compared to controls with 10.3 vs. 3.6%, p = 0.095. Conclusion: Our study did not show statistically significant difference in dietary zinc intake and plasma zinc concentrations between children with FTT and/or short stature compared to healthy controls. A prospective study is planned to assess the effect of zinc supplementation on growth parameters in FTT children.

Rupture of sinus of Valsalva aneurysm with aorto-biventricular fistulas and right-ventricular outflow tract obstruction: a unique association.

Sinus of Valsalva aneurysms are a rare entity. Rupture of such aneurysms is a major cause of aortocardiac fistulas usually occurring between the right sinus of Valsalva and right cardiac chambers. We report an exceptional case of a ruptured congenital sinus of Valsalva aneurysm with fistulas involving both the right- and left-ventricular outflow tracts and causing RVOT obstruction. We also demonstrate the utility of computed tomography angiography and transesophageal echocardiography in diagnosing these fistulas.

Congenital infantile fibrosarcoma: Association with bleeding diathesis

Patient: Male, 2 month Final Diagnosis: Congenital infantile fibrosarcoma Symptoms: Bleeding Medication: Vincristine • actinomycin • cyclophosphamide Clinical Procedure: Surgical resection Specialty: Pediatric Oncology Objective: Diagnostic/therapeutic accidents Background: Congenital infantile fibrosarcoma (CIF) is a soft-tissue tumor occurring during the first 2 years of life, most commonly in the extremities. CIF is frequently initially misdiagnosed as a vascular tumor, but its association with bleeding and coagulopathy has not been well characterized. Case Reports: We describe 2 infants with CIF presenting with bleeding and coagulopathy, requiring urgent intervention. Both patients did well; one underwent partial resection followed by chemotherapy, and the other received 2 cycles of chemotherapy followed by gross total resection. We also provide a review of all reported cases of coagulopathy in the setting of CIF in the English literature, uncovering an association that seems to be more prevalent in patients diagnosed in the neonatal period, with associated anemia and thrombocytopenia, and a significant mortality rate. Conclusions: CIF needs to be considered in the differential diagnosis of vascular congenital tumors, especially when there is evidence of bleeding, anemia, or thrombocytopenia.