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

Authors

  • 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

DOI:

https://doi.org/10.62438/tunismed.v103i2.5480

Keywords:

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

Abstract

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References

- 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 .

- 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

- 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

- 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

Figure 1: Medullary smear stained by May Grunwald Giemsa, x 100, showing the presence of apoptotic neutrophils and atypical phagocytosis.

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Published

2025-02-01

Issue

Vol. 103 No. 2 (2025): Tunis Med Feb 2025

Section

Imaging in clinical practice

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