Chanarin Dorfman syndrome (CDS) is an autosomal recessive neutral lipid storage disorder characterized by ichthyosis, and multisystem affection. Here, we report another patient from Egypt. The clinical data from a patient and his family were collected. DNA was isolated from peripheral blood leukocytes. Coding exons and the flanking introns of ABHD5 gene were PCR amplified, purified, and sequenced. Our patient meets the major clinical symptoms of CDS. Direct sequencing of ABHD5 gene led to the identification of a homozygous single nucleotide change (c.700C>T) in our patient. The parents were both heterozygous carriers, while his sister was wild type normal for the identified variant. In conclusion, these results indicate that p.Arg234Ter is a pathogenic mutation associated with the Chanarin-Dorfman syndrome in our patient in this study.
Background and aim of the work Umbilical venous catheter(UVC) placement is thought to be a cause of portal vein thrombosis(PVT).Our study aimed to identify the incidence of PVT and potential risk factors predisposing neonates with UVC to develop PVT and the prevalence of hereditary prothrombotic mutations among the affected group. Methods A prospective observational study was conducted in the Neonatal intensive care unit (NICU) of Ain Shams university(ASU) Children's Hospital on 100 neonates.They were subjected to abdominal X-ray initially and duplex on their portal veins initially and at 1,6 and 12 months post insertion.We studied the correlation between length of NICU stay, UVC duration, technique, birth weight(BW),gestational age (GA) and the development of PVT. Results There was 46 males and 54 females.The mean BW was 1.87±0.72 Kg, the mean GA was 33.71±2.41weeks.Mean stay in NICU was 18.22±9.78 days, with mean UVC insertion duration 6.88 ±2.55 days,75%of inserted UVC were central in position,77% of the studied neonates were premature,1 patient had NEC(Necrotizing EnteroColitis),18% had sepsis,4% had blood products transfusion through the UVC.The one year follow up of the study group showed no incidence of UVC related PVT. Conclusion Although PVT is related to UVC in the literature and in our experience in the ASU Children's Hospital Hepatology Clinic as a tertiary referral centre, yet in this study, the sole placement of UVC does not appear to increase risk of PVT if properly inserted and cared.
Background: Cystic nephroma It is a benign lesion that can mimic a malignant tumor of the kidney. Case presentation:Here we report a case of multilocular cystic nephroma with unusual localization, largely invading the pyelocaliceal cavities. Conclusions:The importance of its accurate diagnosis is to avoid a radical surgery proposing a partial surgery to preserve a vital organ.
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