Lysinuric protein intolerance associated Hemophagocytic Lymphohistiocytosis revealed by bone marrow atypical hemophagocytosis.

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Figure 1: Medullary smear stained by May Grunwald Giemsa, x 100, showing the presence of apoptotic neutrophils and atypical phagocytosis.
Published Feb 1, 2025
https://doi.org/10.62438/tunismed.v103i2.5480
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Vol. 103 No. 2 (2025): Tunis Med Feb 2025

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Rihem Mezrigui
Hematology Laboratory,Fattouma Bourguiba University Hospital of Monastir, University of Monastir, Faculty of pharmacy of Monastir, Monastir, Tunisia
Saoussen Chouchene
Hematology Laboratory,Fattouma Bourguiba University Hospital of Monastir, University of Monastir, Faculty of pharmacy of Monastir, Monastir, Tunisia
Nesrine Jammali
Pediatrics Department,Taher Sfar University Hospital of Mahdia, University of Monastir, Faculty of medicine of Monastir, Tunisia.
Jihen Sakouhi
Hematology Laboratory,Fattouma Bourguiba University Hospital of Monastir, University of Monastir, Faculty of pharmacy of Monastir, Monastir, Tunisia
Bahri Mahjoub
Service de pédiatrie, Hôpital universitaire Taher Sfar de Mahdia, Université de Monastir, Faculté de médecine de Monastir, Tunisie.
Mohsen Hassine
Hematology Laboratory,Fattouma Bourguiba University Hospital of Monastir, University of Monastir, Faculty of pharmacy of Monastir, Monastir, Tunisia

Abstract

not required

Keywords:

Pancytopenia, infant, hemophagocytosis, Lysinuric protein intolerance, bone marrow

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References

  1. - Doireau, V., Fenneteau, O., Duval, M., Perelman, S., Vilmer, E., Touati, G. and al. Intolérance aux protéines dibasiques avec lysinurie: aspect caractéristique de l’atteinte médullaire. Archives de Pédiatrie.1996 : , 3(9), 877–880. doi:10.1016/0929-693x(96)87577-4 .
  2. - Fenneteau, O., Maier-Redelsperger, M. Aspects cytologiques des maladies métaboliques hérédiatires (hors maladies de surcharge lysosomale). Revue Française Des Laboratoires.1998 : 1998(303), 49–53. doi:10.1016/s0338-9898(98)80068-1
  3. - Olgac, A., Yenicesu, I., Ozgul, R.K. et al. Lysinuric protein intolerance: an overlooked diagnosis. Egypt J Med Hum Genet. 2020; 21(42): 1-4. https://doi.org/10.1186/s43042-020-00084-2
  4. - Noguchi A, Takahashi T. Overview of symptoms and treatment for lysinuric protein intolerance. J Hum Genet. 2019 ;64(9): 849-58. https://doi.org/10.1038/s10038-019-0620-6