Gaucher's disease

Comment

Comment by M.T Niknejad on April 26, 2011 at 5:55am

Thanks ...

Comment by Araceli Cabanillas on April 25, 2011 at 2:36pm

Type 1. The laboratory diagnosis was made​​. The patient was asymptomatic.
Gaucher’s disease is a congenital storage disorder with accumulation of glucocerebroside in the reticuloendothelial system and bone marrow. The majority of patients present in childhood or as young adults - type I. Types II and III are rare, occur in neonates and young children, and carry a generally poor prognosis. Bone marrow expansion gives rise to Erlenmeyer-flask deformity of the distal femur in 50%. Ischaemic necrosis of the femoral head is a common complication. Bone infarcts in the metadiaphyseal regions of long bones also occur. Bone density is decreased generally, predisposing to vertebral compression fracture. Localised lytic bone lesions may occasionally occur, which represent focal accumulations of Gaucher cells. Patients have an increased incidence of osteomyelitis.
In this case I did not do extension studies.

Comment by M.T Niknejad on April 23, 2011 at 6:38pm

Thanks for case ...
Type one Gaucher's disease ?
Is there any skeletal involvement in this patient ?