Histologically atypical case of Gaucher disease type 1

Abstract

This report presents a case of childhood Gaucher disease type 1, a rare inherited metabolic disorder. Although the clinical symptoms were classical, the histological findings in this case were atypical and initially led to diagnostic uncertainty. The pathognomonic histological finding on bone marrow is Gaucher cells, which are lipid-engorged phagocytes secondary to the accumulation of glucosylceramide. These cells typically demonstrate diffuse and avid iron staining using a Prussian blue iron stain. In this case, although the histiocytes seen on bone marrow were abnormal, the absence of iron staining on bone marrow led to a large range of other diagnoses being considered. In retrospect, this anomaly was likely in the setting of prolonged iron deficiency and anaemia as a result of the insidious nature of this presentation. The prognosis of type 1 Gaucher disease is favourable, with current treatments significantly improving duration and quality of life. We explore the utility of a collaborative multidisciplinary approach in addressing diagnostic uncertainty and the importance in making a diagnosis for Gaucher disease type 1 in order to provide appropriate and targeted treatment.

Keywords: Congenital disorders; Failure to thrive; Paediatrics.

Figure 1

(A) Bone marrow trephine x40 H&E staining demonstrating an increase in CD68 positive, CD1a negative, ALK negative mature engorged pale histiocytes without significant haemophagocytosis or features of neoplastic proliferations, with very few normal haematopoietic cells (B) x40 Perls staining demonstrating an absence of cells staining positive for iron.

Figure 2

(A) Skeletal survey demonstrating an extensive permeative lytic pattern throughout the diaphysis of the long bones, with changes evident in shorter bones of the hands and feet. Subcortical erosions were noted on the proximal humeral metaphyses, and a possible lytic skull lesion was also noted. (B) PET scan demonstrating intensively avid gross splenomegaly and excess hepatic FDG uptake, accompanied by impressive and widespread appendicular and axial skeletal FDG uptake and diffuse marrow signal on MRI. FDG, fluorodeoxyglucose; PET, positron emission tomography.