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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Gaucher's Disease case study one

Introduction

Case #1

Case #1

Clinical Summary

A 23-year-old black female delivered a stillborn infant by Caesarean section, following which she experienced excessive uterine bleeding including the passage of blood clots. Further study revealed an enlarged spleen and thrombocytopenia (platelet count 58,000). A splenectomy was performed with an uneventful postoperative course other than persistent pain in her right leg (the right hip had been fractured 2 years earlier). Subsequently she developed aseptic necrosis of the left femoral head requiring a prosthetic replacement. Microscopic evaluation of the bone removed at the time of surgery revealed Gaucher cells in the marrow space.

Autopsy Findings

The surgical specimen was a 935-gram spleen. Its surface was pale with an area of bluish discoloration. The cut surface revealed the same pale appearance.

Histopathological Findings

Images courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology

This is a gross photograph of spleen from this case. The spleen is enlarged and the surface is finely granular.
This is a cut section of spleen from this case. Again note the fine granular appearance to the tissue.
This is a low-power photomicrograph of normal spleen (left) and the spleen from this case (right). The loose appearance of the tissue in the Gaucher spleen is due to artifactual loss of tissue during histologic processing.
This is a photomicrograph of the spleen from this case. There is very little if any white pulp evident in this section.
This is a higher-power photomicrograph of the spleen from this case. Again there is no white pulp and the red pulp is filled with large eosinophilic cells.
This is another high-power photomicrograph of the spleen from this case. At this power it is easier to see the large eosinophilic cells.
This is another high-power photomicrograph of the spleen from this case. At this high power individual cells can be better appreciated.
This is a higher-power photomicrograph of the spleen from this case. At this higher power individual cells can be better appreciated and the fibrillar nature of the eosinophilic cytoplasmic material can be seen.
References

References

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]