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Congenital diarrhea in a newborn infant: A case report

World Journal of Clinical Pediatrics 2019年第3期8卷 43-48页

作者： Mehrin Sadiq Omer Choudry arun k kashyap Danitza M Velazquez Robert Wood Johnson University Hospital Rutgers University

BACkGROUND Microvillus inclusion disease(MVID)is a rare autosomal recessive cause of severe congenital diarrhea with significant morbidity and *** treatment involves bowel *** diagnosis of this condition can be challenging and a few genetic panels are available for the identification of the most common *** present the case of an infant with MVID due to a mutation not reported in the literature *** SUMMARY We report the case of an infant transferred to our institution with severe diarrhea of unknown etiology,failure to thrive,and significant metabolic *** extensive work-up including stool studies for common gastrointestinal pathogens,abdominal ultrasound,esophagogastroduodenoscopy with duodenal biopsy and flexible sigmoidoscopy failed to reveal a *** dietary and formula regimens were introduced but all resulted in voluminous *** remained on total parenteral nutrition(TPN)for the duration of her hospital *** testing was done and she was subsequently found to have a novel mutation in the MYO5B gene[homozygous mutation for MYO5B c.1462del,p.(Ile488Leufs*93)]giving us the diagnosis of *** remains on TPN while awaiting bowel transplant at the time of the compilation of this case *** We report a novel mutation involved in MVID and highlight the importance of considering this disease when faced with a newborn presenting with life threatening *** the time of this publication,232 allelic variations of this gene(MIM#606540)exist in National Center for Biotechnology Information’s *** patient’s mutation has not been reported in literature as a cause of MVID.

关键词： Case report Congenital diarrhea Microvillus inclusion disease Failure tothrive

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Vein of Galen malformation in a neonate:A case report and review of endovascular management

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World Journal of Clinical Pediatrics 2017年第1期6卷 103-109页

作者： Surasak Puvabanditsin Rajeev Mehta kristy Palomares Natalie Gengel Christina Ferrucci-Da Silva Sudipta Roychowdhury Gaurav Gupta arun kashyap David Sorrentino Department of Pediatrics Rutgers Robert Wood Johnson Medical School Department of Obstetrics and Gynecology Rutgers Robert Wood Johnson Medical School Department of Neuro- surgery Rutgers Robert Wood Johnson Medical School

Vein of Galen malformation(VOGM) is a rare congenital vascular malformation caused by the maldevelopment of its embryonic precursor,the median prosencephalic vein of *** results in neonatal morbidity and mortality,and premature delivery does not improve the *** report a term female neonate in whom a vein of Galen malformation was diagnosed prenatally at 37 wk of gestation during a growth ultrasound and confirmed by fetal magnetic resonance *** of cardiac decompensation were evident in the *** interventional radiology embolizations of the feeding vessels were performed successfully on days 7,10,12,14 and 19.A review of the literature on the endovascular management of neonates with these malformations is presented herein.

关键词： Vein of Galen malformation Endovascular therapy Congenital anomaly Neonate

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