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Abstract

January to March 2021 | Vol. 14 | Issue 1 | 10-12
Lysinuric Protein Intolerance Presenting with Hepatosplenomegaly and Pancytopenia
Suvarna Magar, Anjali Kale, Tushar Idhate, Anish Tamrakar, Shubham Jaiswal
Department of Pediatrics, MGM Medical College, MGM Institute of Health Sciences (MGM IHS), Aurangabad, Maharashtra, India
Address for Correspondence Email: drsuvarnamagar@gmail.com
 
Abstract
Lysinuric protein intolerance (LPI) commonly presents with hyperammonemic encephalopathy and failure to thrive. We report a case of a three-and-a-half-year old boy who presented with failure to thrive, recurrent respiratory tract infections, anemia, thrombocytopenia, hepatosplenomegaly and fracture on trivial trauma, indicating towards differential diagnosis of lysosomal storage diseases like Gaucher disease, Niemann-Pick disease, saposin deficiency etc. A homozygous pathogenic variant identified in the SLC7A7 gene, through next-generation sequencing-based exome sequencing of the child, suggested the diagnosis of lysinuric protein intolerance (LPI). We conclude that LPI should be considered as a differential diagnosis in a patient with presentation of hepatosplenomegaly with pancytopenia.
 
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