HISTORY: Male child, age 8 years-old, presented with failure to thrive. He was found to have pancytopenia and hepatosplenomegaly. Bone marrow aspiration done elsewhere was reported to be nonspecific hyperplasia. Splenectomy was done. Images of gross and microscopy findings are presented.
Image A: Gross photo of a slice of spleen.
Images B to H (H&E stained):
Image B and C are at 10x
D is at 20x
E and F are at 40x
G and H are at 100x
Send your comments to Dr. N. Jayaram
at ailm@vsnl.com
Anand Institute of Laboratory Medicine
Bangalore, India
Diagnosis: GAUCHER'S DISEASE.
This time we have received an overwhelming global response - a total of 27 responses of which 20 have straight away called it Gauchers. Two persons has entertained the possibility of SHML / Leishmania in addition. Three persons have considered leishmania vs histiocytosis, one - Neiman Pick and one - Malignant histiocytosis vs virus associated hemophagocytic syndrome.
One of our friends - John Cochran has made my work easier by sending me a nice write up on Gauchers which I have pasted here. Thanks Dr.John and Vijay Varma. 3 images of the Bone Marrow aspirate of this case is published below
This is what John wrote:
John D. Cochran, EUSM, Department of Pathology, Atlanta
It looks like Gaucher's Disease. The best hint is in the 100X photographs of the macrophages with the "cigarette paper" (or to be more politically correct, "tissue paper") cytoplasm. There are little black dots in my pictures that look like hemosiderin deposition but I can't be sure (platelets?). The clinical features suggest Gaucher's as well. My guess is that this is Type I Gaucher's (the least serious). Interestingly, the child is 8 years old. Usually it is picked up much earlier. It could be a dizygous trait, however.
Of course, the histology could represent other sphingolipidoses such as Niemann-Pick's, GM1 and GM2 gangliosidoses, Fabry's, Farber's and Batten's Disease. There is a 99.9% chance this case is one of these. All these diseases have a similar macrophage histology (ie, Gaucher cells). Unfortunately, Gaucher cells are common in any disease with a high cell turnover (eg, AML, CML) and are not pathognomonic. The diagnosis is made with genetic testing. 70% of cases of Gaucher's are spontaneous. I am enclosing a table I created