Geographic destruction of bone is characteristic • Skull: a bevelled edge to the defect, indicating destruction of the two tables to a differing degree (‘hole within a hole’ sign) • Paediatric spine: thoracic > lumbar > cervical involvement • Flat or long bones: typically diaphyseal involvement with an ill-defined medullary lesion • Unusual features: epiphyseal lesions • The most common lipid storage disorder due to an autosomal recessive genetic enzyme (glucocerebrosidase) deficiency • Infantile form: hepatosplenomegaly, lymphadenopathy, neurological complications, anaemia and haemorrhage • Adult form: hepatosplenomegaly, abdominal pain, ascites, dull bone pain or acute painful crises due to bone infarction (± fever, leucocytosis and a raised ESR) • Cancer of the blood-forming cells of the bone marrow (usually affecting leucocytes)
Myeloproliferative disorders
RETICULOENDOTHELIAL DISORDERS
LANGERHANS CELL HISTIOCYTOSIS
DEFINITION
RADIOLOGICAL FEATURES
Eosinophilic granuloma
XR
lesions of the hands and feet are rare
it classically causes a vertebra plana, with the vertebral body becoming flattened and often wafer-thin
endosteal erosion and a linear periosteal reaction is common
transphyseal lesions
extracranial ‘button’ sequestra
posterior vertebral arch lesions
GAUCHER’S DISEASE
DEFINITION
this leads to accumulation of the lipid glucocerebroside within the lysosomes of monocytes and macrophages of many organs (Gaucher cells)
death usually occurs at < 2 years of age (mainly due to CNS involvement)
it mainly affects non-Jews
many patients are Ashkenazi Jews
WHITE CELL DISORDERS
LEUKAEMIA
DEFINITION
Acute lymphocytic leukaemia (ALL): this affects adults and children although it is more common in children (65% of paediatric acute leukemias)
Acute myeloblastic leukaemia (AML): the most common adult acute leukemia
Chronic lymphocytic leukaemia (CLL): an adult disorder (predominantly affecting the elderly)
twice as common as CML
characterized by enlargement of the spleen and lymph nodes and rarely skeletal involvement (except as a terminal event)
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Myeloproliferative disorders
