Crigler-Najjar Syndrome Type 2 in Pregnancy: A Rare Case Report
Journal Title: Journal of Medical Science And clinical Research - Year 2018, Vol 6, Issue 4
Abstract
Crigler-Najjar syndrome is a rare autosomal recessive condition caused by complete (type I) or incomplete deficiency (type II) of hepatic microsomal enzyme uridine diphosphate-glucuronosyltransferase (UDPGT) activity. It is characterized by congenital unconjugated hyperbilirubinemia1-2. It is caused by mutations in the UGT1A1 gene which codes for the enzyme uridine diphosphate glucoronosyl transferase- 1, required for the conjugation and further excretion of bilirubin from the body. Objectives: Our objective in report this case is to know the outome of pregnancy in patient with criglerNajjar syndrome type 2. Case: A 25 year old primigravida woman was admitted to our hospital with history of amenorrhoea for 9 months and history of jaundice since childhood. This patienthad been hospitalized two times in the medicine ward at 17 weeks and 33 weeks of gestation. Patient was diagnosed as crigler-Najjar syndrome type 2 at 33 weeks of gestation. Her total bilirubin level in pregnancy was in range of 10-20mg/dl. Her jaundice was persistent, though the severity fluctuated from time to time, increasing during periods of stress and pregnancy. Phenobarbitone treatment caused acute fall in bilirubin level. Pregnancy outcome was normal delivery of healthy newborn. Her newborn had mild indirect hyperbilirubinemia on day 3, did not require any treatment and his postnatal followup uptil 4 months showed normal growth and development. Conclusion: Crigler-Najjar syndrome type 2 disease, a rare cause of maternal unconjugated hyperbilirubinemia in pregnancy, poses no threat to the mother, and the elevated bilirubin levels do not seem harmful to the fetus.
Authors and Affiliations
Dr Vijay Khandelwal
Keywords
Related Articles
- EP ID EP512706
- DOI -
- Views 69
- Downloads 0
Choledocholithiasis: Clinical Manifestations and Associated Conditions
Background: More than 98% of all biliary tract disorders are in some way related to gallstones. Choledocholithiasis refers to the presence of gallstones within the common bile duct (CBD). It represent a clinical problem...
A Study to Determine the Clinical Efficacy of Spinal Facet Joint Intervention with Medial Branch Block in Patients of Chronic Low Back Pain with Radiation Associated with Facet Arthropathy
Facetogenic back pain results from involvement of spinal zygapophyseal or facet joints. The common symptoms are diffuse back pain, localized tenderness at facet joints, reduced functionality. Lumbar radiculopathy due to...
Seroprevalence of Leptospirosis at a Tertiary Care Hospital
Background & Objectives: Leptospirosis is a zoonotic disease worldwide that has emerged as an important cause of morbidity and mortality among impoverished populations. It is a global condition that is found across the w...
A Rare Case of Sirenomelia or Mermaid Syndrome in A Dizygotic Diamniotic Twin Pregnancy
Sirenomelia is a rare congenital anomaly, not compatible with life, characterised by roatation and fusion of legs, which appears like fish tail, giving its common name'' mermaid syndrome''. genitourinary and gastrointest...
Role of guided Fine needle aspiration cytology in diagnosis of abdominopelvic masses
Introduction: The introduction of modern diagnostic imaging techniques, mainly ultrasonography (USG) has enabled the detection, location and sampling of lesions at the site that are inaccessible to surgical biopsies and...