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CASE REPORT
Year : 2017  |  Volume : 2  |  Issue : 3  |  Page : 17-18

Atypical gauchers manifesting as neonatal cholestasis


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
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Source of Support: None, Conflict of Interest: None


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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.


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