P2.214: Gaucher Disease Type 2: A Case of Diagnostic Intrigue

Introduction: Gaucher disease (GD) is a lysosomal storage disease caused by glucocerebrosidase deficiency. This leads to the accumulation of glycolipids within lysosomes, particularly in macrophages. The manifestations of GD are due to the presence of glycolipid-laden lysosomes within macrophages (Gaucher cells) accumulating in the bone marrow, spleen, liver, and other organs. GD type 2 (acute, neuronopathic form) is understudied compared to types 1 and 3 due to its low incidence (1 in 150,000) and shorter expected survival (2 years).

Case Description: A 23-month-old male with GD Type 2, epilepsy, tracheostomy and g-tube dependence presented to the ED with 2 days of agitation and discomfort. A sepsis work-up showed no obvious signs of infection, other than a trach culture that grew methicillin-susceptible staphylococcus and Serratia marcescens in rare amounts. An EEG determined his movements associated with agitation were not seizures. Pain and palliative care team consults adjusted pain medications, without remittance of pain. Based on a previous case study showing that steroids helped reduce bone crisis pain in GD Type 1, and in discussion with our genetics consultant, we began an empiric 6-day course of prednisone 2 mg/kg daily (IV the first two days, and then PO the last 4.). An MRI of the lower extremities (source of apparent pain per exam) was obtained to evaluate for bone crisis as source of pain but showed no bone or bone marrow involvement and, instead, showed diffuse myositis. His episodes of agitation and discomfort decreased significantly in frequency after steroid initiation, and agitation episodes that did occur became more amendable to PRN medications, specifically ibuprofen and lorazepam. Upon completion of this steroid course, patient was discharged with a PRN steroid course to take if these symptoms recurred.

Discussion: GD Type 2 is very challenging to treat. Bone crisis (seen in 30% of patients with GD 1&3) is not typically seen in GD type 2 likely due to the life expectancy of GD type 2. Myositis on MRI correlated clinically to our exam and responded to a course of steroids but did not have a definitive cause. We considered myositis as a reaction to his enzyme replacement therapy (GD treatment); anti-ERT antibody levels are pending at the time of this abstract. A neuromuscular specialist believed the MRI images may represent myopathy – related to denervated skeletal muscles rather than inflammatory myositis, but the etiology remains unclear.

Conclusion: The scarcity of research on rare diseases makes treating rare diseases difficult. As patients with rare disease live beyond their former life expectancy due to novel treatments, we start to see presentations of their disease that are not previously documented. Our case provides an example for the role steroids may play in patients with GD who may develop myositis.