The authors describe four siblings from consanguineous parents who presented with oculomotor deficit in early childhood characterized by impaired volitional horizontal saccades, compensatory lateral head thrust, and preservation of vertical movement. When about 10 years of age, heavily calcified aortic and mitral valves required surgery. Fibroblast beta-glucocerebrosidase activity was markedly reduced. Genotype analysis indicated that the two patients who were tested were homozygous for the D409H (1342G-->C) mutation. Relating this rare phenotype of Gaucher disease to D409H mutation will facilitate management of the disease and counseling of families.

Musculoskeletal infection, especially in young children, often presents with non-specific clinical signs and symptoms necessitating early imaging to identify the source of infection. While MRI is the investigation of choice to demonstrate bone infection, it is expensive and often requires a general anaesthetic in the young child. Ultrasound can be a useful tool in the initial assessment due to its easy availability and portable equipment. It does not involve ionising radiation and is used to guide aspiration and drainage procedures. This review explains sonographic features of septic arthritis, osteomyelitis, pyomyositis and soft tissue infection in children and highlights advantages and limitations of sonography when assessing the child with suspected musculoskeletal infection.

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Chapter 21 discusses the role of imaging in paediatric oncology, and covers central nervous system (CNS) and renal tumours, neuroblastoma, lymphoma, primary bone tumours (osteosarcoma and Ewing’s sarcoma), and soft tissue sarcomas, including rhabdomyosarcoma and other types. In the management of children’s cancers, diagnostic imaging and interventional radiology have several roles, which include assessment of suspicious lesions to provide a differential diagnosis and guide a biopsy procedure, determination of the local extent of disease and the presence of nodal or distant metastases for the purposes of staging and risk stratification, response assessment, target volume and organ at risk delineation for radiotherapy, management of complications and late effects, and post-treatment surveillance. Active involvement of paediatric radiologists as full members of the paediatric oncology multidisciplinary team is essential to get the best value for patients from imaging studies.

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