Bembi B, Agosti E, Boehm P, Nassimbeni G, Zanatta M, Vidoni L
Pediatric Clinic, Children's Hospital Burlo Garofolo, Trieste, Italy.
Acta Paediatr. 1994 Jan;83(1):122-4. doi: 10.1111/j.1651-2227.1994.tb12968.x.
Gaucher disease is the most prevalent lysosomal storage disorder. It is characterized by an autosomal recessive inheritance of a deficiency of lysosomal acid glucocerebrosidase. Three clinical phenotypes are recognized: type 1 (non-neuronopathic), type 2 (acute neuronopathic), type 3 (subacute neuronopathic). Bone lesions are associated with type 1 and type 3 Gaucher disease. Skeletal involvement is secondary to the progressive accumulation of histiocytes and macrophages laden with glucosylceramide in bone marrow. Our patient was a female type 3 Gaucher patient who was referred to us at the age of 3 years with a neurological symptomatology and severe bone lesions (bilateral fracture of the femur heads, lytic process of the bone matrix of the femurs and distal flask deformity, kyphoskoliosis and chest deformity). The baby was constrained to a wheel-chair. The use of (3-amino-1-hydroxypropylidene)-1,1-biphosphonate (APD) was described in a case of Gaucher disease with very severe bone lesions. We used periodic iv infusions of APD (10 mg every 3 weeks) in our patient for a period of 20 months; after that, enzyme replacement therapy (alglucerase) was commenced. APD treatment showed normalization of bone density, formation of bone callus at the femural heads, positive calcium balance. The urinary Ca/Cr ratio and TRP were consistently normal during therapy. After 9 months of alglucerase therapy the patient was able to walk again. The data indicate that APD therapy can find an indication in Gaucher patients with severe bone involvement.
