Prenatal genotyping of Gaucher disease in Egypt

Objective: To use chorionic villi sampling [CVS] and amniocentesis to determine the genotyping of Gaucher Disease [GD] of fetuses of pregnant mothers who had a previous child affected by GD

Methods: The study was conducted between January 2009 and December 2012. It included 42 pregnant women that gave informed written consent. Thirty mothers presented early so they underwent CVS at 10–12 weeks of pregnancy while 12 mothers presented later and underwent amniocentesis at 14–16 weeks. Strip assay for the identification of Glucocerebrosidase [GBA] gene mutations in the samples of chrorionic villi and amniotic fluid was based on polymerase chain reaction [PCR] and reverse hybridization

Results: The age of the studied pregnant women ranged from 19 to 26 years. Consanguinitywas present in 38 cases. Eighteen women were pregnant in affected fetuses. The results of genotyping revealed 15 cases were homozygous L444P/L444P and one case homozygous [N370s/N370s] while two cases were heterogeneous [L444P/D409H]. Twenty-four pregnant women had carrier fetuses which were all heterozygous L444P

Conclusion: This study highlights the findings of an extended gene mutation examination for prenatal diagnosis of Guacher Disease. The study found out that the most common mutation was L444P/L444P

Rare inherited coagulation disorders: a study of 70 cases in the Egyptian population

Few Rare Bleeding Disorders [RBD] registries exist, none in Africa. Rare coagulation defects transmitted as autosomal recessive traits are more prevalent in Muslim countries where consanguineous marriages are frequent. To compare the clinical spectrum of some RBD in Egypt with other published data. This is a single centre study with a large number of patients where data were collected over 4 years and a local registry was started. This included, detailed bleeding history; diagnostic events, clinical manifestations and treatment regimens. We report the full clinical data of 70 patients, 61.4% males and 38.6% females with the vast majority the offspring of consanguineous marriage. Afibrinogenemia is the most prevalent constituting 28.6% of the rare coagulation disorders in our hospital registry. Among our group of rare coagulation deficiencies, the most common sites of bleeding were skin and mucous membranes. Most patients received on demand therapy usually on initial presentation and 5 are on prophylactic therapy. The prevalence of these rare coagulation deficiencies is different in the Egyptian population than elsewhere and so further studies including larger number of patients could serve as an important resource for clinicians in different parts of the world in view of rarity of these conditions

Cerebrovascular lesions in sickle cell pediatric patients: Transcranial color duplex doppler sonography amd diffusion weighted MRI study with clinical correlation

Sickle cell disease [SCD] s a common inherited hemoglobin disorder. Cerebral infraction secondary to occlusive vasculopathy is a major complication in children with SCD, with a prevalence of 5.5% to 17%. Recent MRI studies have also reported a high incidence of silent infarcts [11-16%]. Trans cranial color duplex Doppler [TCD] study can reliably predict which children with SCD are at great risk for developing a stroke. Aim of the work: Is to correlate the TCD and MRI findings with clinical and hematological criteria of children with SCD to identify patients at high risk for developing stroke. This study was conducted 30 children with SCD [16 SS and 14 S-beta T]. Their ages ranged from 2.5 to 19 years [mean age. 9.1 years +/- 4.3]. All were subjected to full history taking thorough clinical examination and laboratory investigations, complete blood picture, hemoglobin electrophoresis, reticulocytic count and liver function tests. The were all subjected to TCD mainly middle cerebral artery [MCA] on both sides and MRI using standard T-2 weighted images and diffusion-weighted imaging technique. Six children had a history of seizures and all were neurologically free except one with left sided hemiprses. The mean velocities [Vmean] of the right and left MCA were significantly higher in SS than S-BT. Four children [13.3%] had abnormal TCD findings with significantly high peak systolic velocities [PSV] of MCA. Three ofthem had abnormal MRI [one had old infract, another one had silent small recent infracts and one showed ischemic foci], the fourth showed no MRI abnormality. Regular TCD screening is useful in detecting the abnormal cerebral vessels and its recommended that cerebrovascular disease with TCD. Screening every 6 months for sikle cell disease pediatric patients may help to select high risk children for [DWI]. This will help determine candidates for regular transfusion therapy in an attempt to prevent the occurrence of stroke