Familial hemophagocytic lymphohistiocytosis in an infant: A case report

Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare disorder of early childhood more prevalent in consanguineous families. We discuss a case of a 6-month-old female infant presenting with persistent fever, failure to thrive and neurological manifestations. Diagnosis of FHL type 2 was made ba...

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Main Authors: Sushma Belurkar, Gaurvi Piplani, Suneel C. Mundkar, Sandeep Kumar BK, Karen Janice Moras, Rochelle Anne Pereiera
Format: Article
Language:English
Published: Krishna Vishwa Vidyapeeth (Deemed to be University), Karad 2025-01-01
Series:Journal of Krishna Institute of Medical Sciences University
Subjects:
Online Access:https://www.jkimsu.com/jkimsu-vol14no1/JKIMSU,%20Vol.%2014,%20No.%201,%20January-March%202025%20Page%20170-175.pdf
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author Sushma Belurkar
Gaurvi Piplani
Suneel C. Mundkar
Sandeep Kumar BK
Karen Janice Moras
Rochelle Anne Pereiera
author_facet Sushma Belurkar
Gaurvi Piplani
Suneel C. Mundkar
Sandeep Kumar BK
Karen Janice Moras
Rochelle Anne Pereiera
author_sort Sushma Belurkar
collection DOAJ
description Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare disorder of early childhood more prevalent in consanguineous families. We discuss a case of a 6-month-old female infant presenting with persistent fever, failure to thrive and neurological manifestations. Diagnosis of FHL type 2 was made based on clinical and laboratory parameters and confirmed with genetic testing. Child was started on intravenous corticosteroids under antibiotic coverage along with anti-epileptics and supportive care however the overall clinical condition did not improve and after 6 days of hospital stay the parents requested discharge and was lost to follow- up.
format Article
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institution Kabale University
issn 2231-4261
language English
publishDate 2025-01-01
publisher Krishna Vishwa Vidyapeeth (Deemed to be University), Karad
record_format Article
series Journal of Krishna Institute of Medical Sciences University
spelling doaj-art-5d700b0ccfa94accbf374dd0debfa5902025-08-25T11:51:47ZengKrishna Vishwa Vidyapeeth (Deemed to be University), KaradJournal of Krishna Institute of Medical Sciences University2231-42612025-01-01141170175Familial hemophagocytic lymphohistiocytosis in an infant: A case reportSushma Belurkar0Gaurvi Piplani1Suneel C. Mundkar2Sandeep Kumar BK3Karen Janice Moras4Rochelle Anne Pereiera5Department of Pathology, Kasturba Medical College, Manipal Academy of Higher Education, Manipal (Karnataka), IndiaDepartment of Pathology, Kasturba Medical College, Manipal Academy of Higher Education, Manipal (Karnataka), IndiaDepartment of Pediatrics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal (Karnataka), IndiaDepartment of Pediatrics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal (Karnataka), IndiaDepartment of Pediatrics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal (Karnataka), IndiaDepartment of Pediatrics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal (Karnataka), IndiaFamilial Hemophagocytic Lymphohistiocytosis (FHL) is a rare disorder of early childhood more prevalent in consanguineous families. We discuss a case of a 6-month-old female infant presenting with persistent fever, failure to thrive and neurological manifestations. Diagnosis of FHL type 2 was made based on clinical and laboratory parameters and confirmed with genetic testing. Child was started on intravenous corticosteroids under antibiotic coverage along with anti-epileptics and supportive care however the overall clinical condition did not improve and after 6 days of hospital stay the parents requested discharge and was lost to follow- up.https://www.jkimsu.com/jkimsu-vol14no1/JKIMSU,%20Vol.%2014,%20No.%201,%20January-March%202025%20Page%20170-175.pdfinfantfailure to thrivefamilial hemophagocytic lymphohistiocytosis
spellingShingle Sushma Belurkar
Gaurvi Piplani
Suneel C. Mundkar
Sandeep Kumar BK
Karen Janice Moras
Rochelle Anne Pereiera
Familial hemophagocytic lymphohistiocytosis in an infant: A case report
Journal of Krishna Institute of Medical Sciences University
infant
failure to thrive
familial hemophagocytic lymphohistiocytosis
title Familial hemophagocytic lymphohistiocytosis in an infant: A case report
title_full Familial hemophagocytic lymphohistiocytosis in an infant: A case report
title_fullStr Familial hemophagocytic lymphohistiocytosis in an infant: A case report
title_full_unstemmed Familial hemophagocytic lymphohistiocytosis in an infant: A case report
title_short Familial hemophagocytic lymphohistiocytosis in an infant: A case report
title_sort familial hemophagocytic lymphohistiocytosis in an infant a case report
topic infant
failure to thrive
familial hemophagocytic lymphohistiocytosis
url https://www.jkimsu.com/jkimsu-vol14no1/JKIMSU,%20Vol.%2014,%20No.%201,%20January-March%202025%20Page%20170-175.pdf
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AT sandeepkumarbk familialhemophagocyticlymphohistiocytosisinaninfantacasereport
AT karenjanicemoras familialhemophagocyticlymphohistiocytosisinaninfantacasereport
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