CASE REPORT
Year : 2017 | Volume
: 2 | Issue : 3 | Page : 17--18
Atypical gauchers manifesting as neonatal cholestasis
Imran Patel1, Kapil Shukla2
1 Department of Pediatrics, Smt. NHL Municipal Medical College & Hospital, Ahmedabad, India
2 Department of Pediatrics D Y Patil Medical College, Hospital & Research Centre, Navi Mumbai, India
Correspondence Address:
Imran Patel
Department of Pediatrics, Smt. NHL Municipal Medical College & Hospital, Ahmedabad
India
Deficiency of lysosomal enzyme glucocerebrosidase leads to Gauchers disease which is the most common sphingolipidosis. A non-neuronopathic form of gauchers disease as a result of sapocin-C deficiency is a rare entity. Sapocin-c is required for degradation of glucosylseramide and its deficiency results in an atypical form of Gauchers disease. Neonatal cholestasis is defined as a prolonged elevation of conjugated bilirubin beyond 14 days of life. We hereby present a 10 month old male child who presented with neonatal cholestasis due to sapocin-C deficiency, which is the first rare case being reported in literature.
How to cite this article:
Patel I, Shukla K. Atypical gauchers manifesting as neonatal cholestasis.Int J Gastroenterol Hepatol Transpl Nutr 2017;2:17-18
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How to cite this URL:
Patel I, Shukla K. Atypical gauchers manifesting as neonatal cholestasis. Int J Gastroenterol Hepatol Transpl Nutr [serial online] 2017 [cited 2022 Aug 15 ];2:17-18
Available from: http://www.ijghtn.com/article.asp?issn=2455-9393;year=2017;volume=2;issue=3;spage=17;epage=18;aulast=Patel;type=0 |
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