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. 2024 Nov 5;8(11):e70042.
doi: 10.1002/hem3.70042. eCollection 2024 Nov.

How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears

Sandrine Girard  1 , Magali Pettazzoni  2 , Roseline Froissart  2 , Cécile Pagan  2 , Thomas Boyer  3 , Stephanie Dulucq  4 , Valérie Gonçalves Monteiro  5 , Nicolas Lechevalier  4 , Marie Loosveld  6 , Camille Lours  1 , Caroline Mayeur-Rousse  7 , Mélanie Pannetier  8 , Caroline Peillon  9 , Maria-Alessandra Rosenthal  10 , Sonnthida Sep Hieng  11 , Catherine Trichet  12 , Lucile Baseggio  13 ; on behalf the French‐Speaking Cellular Haematology Group (GFHC)
Affiliations

How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears

Sandrine Girard et al. Hemasphere. .
No abstract available

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
May‐Grünwald‐Giemsa‐stained bone marrow and peripheral blood smears. (A) FH and SBH in bone marrow (magnification ×63 and ×100): (a) FH exhibits abundant cytoplasm including numerous small to medium‐sized inclusions, which are primarily white but may also appear dim blue or pink (cases 2, 5, 9, and 18). In some cases, SBH is observed (cases 9 and 18). (b) Vacuolated hematopoietic cells are present in BM including granular neutrophils, eosinophils, monocytes, and plasma cells (cases 2 and 5). (c) Increased adipose tissue is noted (case 2), with fat inclusions sometimes observed among hematopoietic tissue (cases 5 and 18). (B) VL in peripheral blood (magnification x100): VL are characterized by 3 to 6 clustered vacuoles or are aligned in a manner reminiscent of pearls on a string (cases 1 and 6). ASMD, acid sphingomyelinase deficiency; FH, foamy histiocytes; NPC, Niemann‐Pick disease type C; SBH, sea‐blue histiocytes; VL, vacuolated lymphocytes. Clinical neurological form of NPC: LI, late infantile; Unc, uncategorized.
See this image and copyright information in PMC

References

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