Enzyme replacement therapy in the management of longstanding skeletal and soft tissue salmonella infection in a patient with Gaucher's disease

Patients with Gaucher's disease, particularly those who have undergone splenectomy, are susceptible to bacterial infections. ¹ Although rare, infections with salmonella may be life threatening and resistant to standard treatment, as illustrated by the following case.

CASE REPORT

A 41 year old man, an aeronautical engineer of Ashkenazi Jewish origin, was hospitalised in November 1991 with fever (temperature >39.5°C), rigors, prostration, severe jaundice, and respiratory failure. Septic shock was evident with disseminated intravascular coagulation and adult respiratory distress syndrome.

The medical history was remarkable for Gaucher's disease, which was diagnosed by bone marrow biopsy at age 6 years, and for a partial factor XI deficiency. Seven years before presentation, the patient had undergone an elective splenectomy because of massive splenomegaly and pancytopenia. Five years before presentation the patient required right total hip replacement after suffering a pathological subcapital fracture of the right femur. Within three months a left total hip replacement was also required due to avascular necrosis of the left femoral head.

Physical examination revealed an ill appearing, severely tachypnoeic, and dyspnoeic patient with moderate hepatomegaly.

Abnormal laboratory findings included a low haemoglobin concentration of 73 g/l (7.3 g/dl), white blood cell count of 4.6 x 10⁹ /l, and platelet counts 16 x 10⁹ /l. He also had markedly abnormal blood chemistry values (total bilirubin 114 [mu]mol/l, aspartate aminotransferase 8.55 [mu]kat/l, alanine aminotransferase 5.35 [mu]kat/l, alkaline phosphatase 14.05 [mu]kat/l, lactate dehydrogenase 7.78 [mu]kat/l, albumin 19 g/l, and calcium 1.69 mmol/l). Urinalysis was positive for bilirubin; blood cultures were positive for group C salmonella.

The patient's condition stabilised with supportive treatment and appropriate parenteral antibiotics (initially ampicillin, second ofloxacin, then ceftriaxone and finally, a combination of chloramphenicol and trimethoprim-sulfamethoxazole as per culture sensitivity). There was resolution of respiratory dysfunction and jaundice, gradual normalisation of laboratory findings, and blood cultures were negative. The patient, however, remained febrile (>38°C). Twelve days after admission, multiple soft tissue abcesses appeared, followed by multifocal osteomyelitis. Cultures obtained from bone and soft tissue lesions yielded group C salmonella.

Over the following weeks, despite aggressive antibiotic treatment and a number...