Diagnosis of Rare Sphingolipid Storage Disease Mimicking Recurrent Septic Arthritis

Background: Gaucher`s disease (GD) is an autosomal recessive disorder with genetic and phenotypic variability. It is the most prevalent sphingolipid storage disease, characterized by accumulation of glucocerebrosidase in macrophage-monocyte cells known as ’Gaucher cells’, due to enzyme deficiency encoded by GBA-gene on chromosome-1.

Objective: Presentation of a case of GD with rare clinical presentation and rare mutation on the genetic analysis of GBA-gene.

Methods: A 12 year-old Caucasian boy presented with recurrent episodes of left hip pain and gradually increasing limp. He was developmentally normal, born to non-consanguineous parents. From his past medical history he had undergone surgical debridement and drainage of a soft tissue infection of the left femoral area.

There was no clear history of trauma and no significant family history of any disorder.

On physical examination at presentation restricted range-of-movement of the left hip was noted as well as painful weight-bearing and antalgic gait; there was mild splenomegaly, no hepatomegaly, no lymphadenopathy and no signs of neurological abnormalities. The rest of systemic examination was essentially normal. Laboratory investigations including fbc, liver and kidney function test and urine analysis were unremarkable. Blood and joint fluid cultures were negative. X-ray of the joint was normal. The joint-ultrasound revealed joint effusion. The patient was initially treated as septic arthritis. He showed deterioration of his clinical condition on ambulation and from the CT/MRI femoral head necrosis was noted needing surgical intervention. A bone marrow biopsy was performed which revealed Gaucher cells. Elevated plasma chitotriosidase confirmed the diagnosis of GD. Genetic analysis of GBA-gene showed the patient was heterozygote for two different known mutations NS370S/IVS6-2A->G which is consistent with Type 1 GD.

Conclusion: GD should be considered in the differential diagnosis of patients with unexplained bone pathology. The early recognition of GD leads to early treatment with enzyme-replacement which can decrease morbidity.