The patient, who had been followed up for seven years with the diagnosis of Gaucher type 3 by the pediatric genetics and pediatrics gastroenterology clinics, was brought to our emergency department by her family due to bilateral thigh pain during genital cleaning.
The lower extremity motor examination could not be completed due to the patient's diffused anterior thigh pain. It was observed that the lower extremity sensory examination was normal.
Bilateral hands and wrists have a full range of motion. Hand, wrist, flexor and extensor muscle strength were 5/5, and bilateral arms, forearm, and hand sensory examinations were normal.
X-ray imaging of the patient, who had bilateral proximal thigh pain and tenderness, showed lytic lesions nearly entirely throughout the bilateral femur. In addition, minimally displaced fractures were seen in the right femural diaphysis and in the left femur close to the intertrochanteric area (Fig. 1). X-ray imaging of the bilateral humeral diaphysis showed lytic lesions without pathological fractures. The patient was suffering from chronic low back pain without any significant spinal deformities. Bone pathology and deformity were not seen in the spine radiography (Fig. 2). Bone densitometry performed one year ago was consistent with a 1–4 lumbar Z score of -3.4.
The patient had received imigluserase enzyme therapy two years ago and the pediatric surgery clinic followed up the patient, who had hepatosplenomegaly unresponsive to enzyme replacement therapy.
Patient's laboratory results measured at the time of the fracture; hemoglobin 13.1 g/dl (Normal), aspartat aminotransferaz 33 U/L(N), alanin aminotransferaz 4 U/L(N), alkaline phosphatase 58 U/L(N), prothrombin time 19.1 sec(High), activated partial thromboplastin time 31.1sn(N), phosphorus 1.9 mg / dl(Low), magnesium 2 mg / dl(N), calcium 8.7 mg / dl(L), 25-OH Vit D 7.45 ug / L(L). In addition, the amount of urinary calcium 109 mg / dl (High) was determined.
Conservative treatment was decided because the patient's fracture configurations was within acceptable angulation values for 7 years. Bilateral long leg splint with pelvic support was applied with the knees at 15 degrees of flexion.
Callus formations was observed in the second week of control of the patient, whose neurovascular examination was normal, and it was determined to continue splint treatment.
Since mature callus formations was seen at the 4th-week control, splint treatment was discontinued, and passive exercises were started.
At the third month of follow-up, it was found that both knee extensions of the patient were limited by 10 degrees, but the knee flexion muscle strength was 5/5. There was a 100 degrees of flexion and a -10 degrees of extension in both hips of the patient. A total range of motion of 20 degrees was observed in both hips. Pain was reported during FABER and FADIR tests.
Magnetic resonance imaging was recommended due to the diffuse lytic lesions in both femurs on tomography imaging of both femurs (figüre 3). A femur biopsy was recommended for the patient with suspected malignancy on contrast-enhanced magnetic resonance imaging. Splenectomy and femur biopsy were performed in the same session with the pediatric surgical team on the patient, who had massive splenomegaly and thrombocytopenia under enzyme replacement therapy for two years.
Phagocytic cells were diffusely observed in the bone marrow biopsy and splenectomy material. These cells, which were found to be PAS positive and immunohistochemically CD68 positive, were evaluated as Gaucher cells with morphological findings (Fig. 4). The patient is still receiving enzyme therapy and vitamin replacement.
In the 3rd postoperative month, the examination of both hips of the patient was completely pain-free. After 20 sessions of physiotherapy, a significant reduction in spinal pain was achieved. One year after the pathological fracture, the patient came to the control completely without support. X-ray imaging showed complete union accompanied by minimal varus (figüre 5).