Pre and postnatal diagnosis of congenital portosystemic shunt: Impact of interventional therapy.

Introduction: Congenital portosystemic shunts (CPSS) are rare vascular malformations that can lead to severe complications. With advanced imaging techniques, diagnosis is becoming more feasible occurring in fetal life. Different approaches have been adopted to manage these cases, with an increased utilization of interventional therapy recently.

Oldest co-occurrence of and from Africa-first record of squamates from the early Miocene of Moghra Formation, Western Desert, Egypt.

Lizard and snake remains from the early Miocene (Burdigalian) of the Moghra Formation, Egypt, are described herein. This material comprises the first fossil remains of squamates recovered from the otherwise rich and well known vertebrate assemblage of Moghra. The material pertains to two different genera, the varanid lizard and the pythonid snake and adds to the so far rather poorly known squamate fossil record from Africa.

Hypoxia due to intrapulmonary vascular dilatation in a toddler with a congenital portacaval shunt: case report.

Background: The term hepatopulmonary syndrome typically applies to cyanosis that results from "intrapulmonary vascular dilatation" due to advanced liver disease. Similar findings may result from a congenital portosystemic shunt without liver disease. An adverse consequence of such shunts is intrapulmonary vascular dilatation, which affects the microvascular gas exchange units for oxygen.

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.

Background: Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms.

Methods: An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities.

Perinatal outcome of congenital heart disease in a population with high consanguinity.

Objective: To report the perinatal pattern and outcome of fetuses with congenital heart disease (CHD) in consanguineous marriages.

Methods: Retrospective chart review was performed for fetuses undergoing fetal echocardiography (FE) in our institution. The primary outcome was survival at 28 days after birth.

Very high serum ferritin levels in three newborns with Kawasaki-like illness.

Kawasaki disease (KD) is an inflammatory condition of unknown etiology that affects children, with a peak incidence in the second year of life. KD is uncommon in the first year of life and is rare in the newborn period. The present report describes three newborn infants who were admitted to hospital with fever and nearly identical clinical features of generalized inflammation.

Enzyme-replacement therapy in life-threatening hypophosphatasia.

Background: Hypophosphatasia results from mutations in the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Inorganic pyrophosphate accumulates extracellularly, leading to rickets or osteomalacia. Severely affected babies often die from respiratory insufficiency due to progressive chest deformity or have persistent bone disease.

New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.

Objective: To identify the mutations underlying a number of inborn errors of metabolism (IEM) disorders among United Arab Emirates (UAE) residents.

Methods: Molecular diagnostic and bioinformatics tools were used to identify the causative mutations of IEM disorders from multi-ethnic patients residing in UAE. The study was conducted in Al-Ain, UAE, between April 2009 and September 2010.

Inseparable thoraco-omphalopagus twins.

Conjoined twins occur at the rate of 1 in 50 to 200,000 live births, and 75% of these share the thorax (thoracopagus) or the thorax and upper abdomen (thoraco-omphalopagus), resulting in cardiac and hepatic sharing. Antenatal diagnosis can delineate the cardiac anatomy and provide parental counseling on whether separation is possible after birth. In the majority of cases, thoracopagus twins have a complex cardiac anatomy and share a common pericardial sac.

Antenatal diagnosis of pompe disease by fetal echocardiography: impact on outcome after early initiation of enzyme replacement therapy.

Hypertrophic cardiomyopathy (HCM) affects most infants with Pompe disease (PD), and may serve as a marker for its antenatal diagnosis (ANDx) by fetal echocardiography (FE). Fetuses diagnosed with HCM between 2006 and 2009 were included in this study. HCM, defined as Z-score of mean left ventricular wall thickness (LVWT) and/or mass (LVM) above 2, was detected in 5/1,268 fetuses (0.

Reversal of iron-induced dilated cardiomyopathy during therapy with deferasirox in beta-thalassemia.

A 15-year-old male with beta-thalassemia major developed dilated cardiomyopathy secondary to iron-overload (Z-scores of left ventricle (LV) dimensions >3, ejection fraction (EF) 33%). Treatment with deferoxamine was unsuccessful, presumably due to poor compliance. After 15 months of using deferasirox (DFX), LV end-diastolic dimension normalized (Z-scores <2), and EF improved to 58%.

Churg-Strauss syndrome presenting as an abdominal mass in a non-asthmatic child.

A 2-year-old boy presented with an abdominal mass and was diagnosed as Churg-Strauss syndrome (CSS). There was no history of asthma. He developed fatal gastro-intestinal disease, despite treatment with corticosteroids and cyclophosphamide.

A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.

Introduction: Previously, autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT [1]) was mapped to chromosome 1q42-43 with identification of pathogenic mutations in RYR2. Autosomal recessive CPVT (2) was mapped to chromosome 1p13-21, leading to the identification of mutations in CASQ2. In this study, we aimed to elucidate clinical phenotypes of a new variant of CPVT (3) in an inbred Arab family and also delineate the chromosomal location of the gene causing CPVT (3).

Octreotide and low-fat breast milk in postoperative chylothorax.

Chylothorax is a rare complication following cavo-pulmonary connection and can lead to significant morbidity in infants and young children. We report here the case of a 3-month-old infant who underwent bilateral cavo-pulmonary connections, and developed severe chylothorax refractory to the usual conservative and surgical treatments. His chylothorax resolved after using a combination of parenteral octreotide (Sandostatin, Novartis Pharmaceuticals, East Hanover, NJ) and low-fat breast milk.