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