A Novel NRAS Variant Near the Splice Junction in Moroccan Childhood Acute Lymphoblastic Leukemia: A Molecular Dynamics Study.

The RAS genes are importantly implicated in oncogenesis and are frequently mutated in childhood acute lymphoblastic leukemia. This study is the first to our knowledge, to determine the mutational status of NRAS and KRAS genes in Moroccan pediatric acute lymphoblastic leukemia (ALL). Polymerase chain reaction and Sanger sequencing were performed for 45 ALL samples to explore the coding exons.

Complicated meconium ileus in a male neonate with cystic fibrosis: Case report.

In about 10%-15% of instances, meconium ileus (MI) is the first sign of cystic fibrosis (CF). If a newborn exhibits signs of intestinal obstruction and does not pass meconium within a short period of time after birth, MI is suspected. The cystic fibrosis transmembrane conductance regulator gene (CFTR), which is found on chromosome 7q31, is mutated in CF patients.

Cytogenetic abnormalities and TP53 and RAS gene profiles of childhood acute lymphoblastic leukemia in Morocco.

Background: Recurrent genetic abnormalities affecting pivotal signaling pathways are the hallmark of childhood acute lymphoblastic leukemia (ALL). The identification of these aberrations remains clinically important. Therefore, we sought to determine the cytogenetic profile and the mutational status of TP53 and RAS genes among Moroccan childhood cases of ALL.

Coeliac disease hidden by cryptogenic hypertransaminasaemia in children: a case report.

Celiac disease is a chronic immune-mediated multisystem disorder that may affect several organs. Isolated hypertransaminasemia, with mild or nonspecific histologic changes in the liver biopsy, also known as "celiac hepatitis", is the most frequent presentation of liver injury in celiac disease. Both, histologic changes and liver enzymes reverse to normal after treatment with a gluten-free diet in most patients.

Vitamin B12 deficiency: case report and review of literature.

Vitamin B12 deficiency in early childhood is an important cause of neurodevelopmental delay and regression. Most of these cases occur in exclusively breast-fed infants of deficient mothers. Symptoms and signs of vitamin B12 deficiency appear between the ages of 2 to 12 months and include vomiting, lethargy, failure to thrive, hypotonia, and arrest or regression of developmental skills.

Congenital hepatic fibrosis: case report and review of literature.

Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease derived from biliary dysgenesis secondary to ductal plate malformation; it often coexists with Caroli's disease, von Meyenburg complexes, autosomal dominant polycystic kidney disease (ADPKD), and autosomal recessive polycystic kidney disease (ARPKD). Although CHF was first named and described in detail by Kerr et al. in 1961.

What about the treatment of asymptomatic forms of congenital malaria: case report and review of the literature.

We report in this manuscript a case of newborn baby with asymptomatic form of congenital malaria; the screening of the peripheral blood smear of the baby after a positive result in the mother allowed the diagnosis. The authors were permitted through this case to discuss the therapeutic possibility in these cases.

Nijmegen breakage syndrome: case report and review of literature.

Nijmegen Breakage Syndrome (NBS) is a rare autosomalrecessive DNA repair disorder characterized by genomic instability andincreased risk of haematopoietic malignancies observed in morethan 40% of the patients by the time they are 20 years old. The underlying gene, NBS1, is located on human chromosome 8q21 and codes for a protein product termed nibrin, Nbs1 or p95. Over 90% of patients are homozygous for a founder mutation: a deletion of five base pairs which leads to a frame shift and protein truncation.

Congenital hyperinsulinsim: case report and review of literature.

Neonatal hypoglycemia (NH) is one of the most common abnormalities encountered in the newborn. Hypoglycemia continues to be an important cause of morbidity in neonates and children. Prompt diagnosis and management of the underlying hypoglycemia disorder is critical for preventing brain damage and improving outcomes.

[Vomiting associated with weight stagnation and convulsions: urea cycle disorder should be suspected].

In some inherited metabolic diseases, in particular in urea cycle disorders, which are usually diagnosed in neonatal period or in childhood, vomiting is often the first symptom. We report a case of late revelation of urea cycle disorder in a 13 years old female patient hospitalized for convulsions and failure to thrive. The patient underwent an interview revealing chronic vomiting associated with behavioral disorders, ideomotor slowdown and headaches.

[Pycnodysostosis: about a case].

Pycnodysostosis is a very rare genetic disease of the bone characterized by osteocondensation associated with dysmorphic syndrome and growth retardation. This study aims to highlight the phenotypic abnormalities, the radiological signs, the therapeutic and evolutionary features of pycnodysostosis in a 11-year old child. The child was referred by his dentist for clinical evaluation.

A three-year-old boy with hypodipsic hypernatremia syndrome.

We describe a three-year-old boy who had a growth and psychomotor retardation associated with inappropriate lack of thirst and vasopressin secretion in the presence of chronic plasma hyperosmolarity. Computed brain tomography revealed bilateral supratentorial sub-ependymal and cortical calcifications. Dissociation in the plasma vasopressin response to osmotic change was demonstrated in this patient.

Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature.

Macrophage activation syndrome (MAS) is a severe and potentially fatal life-threatening condition associated with excessive activation and expansion of T cells with macrophages and a high expression of cytokines, resulting in an uncontrolled inflammatory response, with high levels of macrophage colony-stimulating factor and causing multiorgan damage. This syndrome is classified into primary (genetic/familial) or secondary forms to several etiologies, such as infections, neoplasias mainly hemopathies or autoimmune diseases. It is characterised clinically by unremitting high fever, pancytopaenia, hepatosplenomegaly, hepatic dysfunction, encephalopathy, coagulation abnormalities and sharply increased levels of ferritin.

Bilateral fibular hemimelia associated with hip dislocation and femoral head necrosis.

We describe a case of association of congenital bone abnormalities. It will allow clinicians to look systematically for other skeletal malformations and teach them how to evaluate these cases for the first time. This early screening will enable appropriate treatment to avoid complications and to preserve functional prognosis.

Report on paediatric care in the Moroccan military mission in the Gaza Strip.

This report aims to describe the epidemiologic findings of the workload associated with paediatric consultation of the Moroccan Military field hospital in the Gaza Strip. The patient Administration System and Biostatistics Activity database was reviewed and queried for all patients < 15 years of age who were consulted in the Moroccan Army hospital in the Gaza Strip between November 2012 to February 2013. Paediatric consultations during the study period were 7420 (19.

Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.

Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation.

[Double aortic arch: about two cases].

Double aortic arch is a rare anomaly of the aortic arch. It is due to the absence of involution of the caudal dorsal aorta. The disease usually begins to show itself in very early clinical signs, already detectable in the neonatal period.

[Factor V congenital deficiency: about a case].

Factor V congenital deficiency is a rare coagulation disorder initially described by Owren in 1947 and known as para hemophilia. It is transmitted through autosomal-recessive inheritance and homozygous cases are usually symptomatic. Factor V is an essential cofactor in the conversion of prothrombin to thrombin by activated factor X.

Von Willebrand's disease: case report and review of literature.

Von Willebrand Disease (VWD) is the most common human inherited bleeding disorder due to a defect of Von Willebrand Factor (VWF), which a glycoprotein crucial for platelet adhesion to the subendothelium after vascular injury. VWD include quantitative defects of VWF, either partial (type 1 with VWF levels < 50 IU/dL) or virtually total (type 3 with undetectable VWF levels) and also qualitative defects of VWF (type 2 variants with discrepant antigenic and functional VWF levels). The most bleeding forms of VWD usually do not concern type 1 patients with the mildest VWF defects (VWF levels between 30 and 50IU/dL).

Utility of the QuantiFERON-TB Gold In-Tube assay for the diagnosis of tuberculosis in Moroccan children.

Setting: The utility of interferon-gamma release assays (IGRAs), such as the QuantiFERON-TB Gold In-Tube (QFT-GIT) test, in diagnosing active tuberculosis (TB) in children is unclear and depends on the epidemiological setting.

Objective: To evaluate the performance of QFT-GIT for TB diagnosis in children living in Morocco, an intermediate TB incidence country with high bacille Calmette-Gurin vaccination coverage.

Design: We prospectively recruited 109 Moroccan children hospitalised for clinically suspected TB, all of whom were tested using QFT-GIT.

[Guillain-Barré syndrome with preserved reflexes].

Guillain-Barré is a rare, autoimmune disease of the peripheral nervous system. It can affect all ages beginning in the intrauterine or neonatal period. Clinical forms are diverse and include acute motor axonal neuropathy (AMAN).

A case report of vasa previa incidentally discovered.

Vasa previa is a rare but clinically important obstetrical complication that can be associated with a low-lying placenta or placenta previa. We aim to present one case of vasa previa diagnosed during the placenta examination after the caesarean indicated for triple uterus scar. A 26-year-old female was referred to our hospital at 30 weeks of gestation to provide a scheduled caesarean.