A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.

Three unrelated patients with identical radiological features are presented. Hypotonia was noted at birth and one patient was diagnosed as having congenital fibre type disproportion in the neonatal period. Later muscle biopsies, however, were entirely normal. All patients, now in their teens and twenties, are of normal intelligence, show striking epiphyseal and metaphyseal changes of the long bones, and have joint laxity and multiple dislocations of large joints, which are particularly incapacitating at the knees. These three cases represent a sporadic, previously unreported skeletal dysplasia with spondyloepimetaphyseal distribution and multiple large joint dislocations.

Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia).

We report a 3-year-old girl with the association of spondyloepiphyseal dysplasia, nephrotic syndrome, and signs of defective cellular immunity. The findings are similar to those reported by Spranger et al., which have become known as Schimke immunoosseous dysplasia.

The synthetic phosphagen cyclocreatine phosphate inhibits the growth of a broad spectrum of solid tumors.

BACKGROUND: The brain isoform of creatine kinase (CKBB), an enzyme involved in energy metabolism, has been implicated in cellular transformation process. Cyclocreatine (CCr), a creatine kinase (CK) substrate analogue, was shown to inhibit the growth of a broad spectrum of solid tumors expressing high levels of CK. Cyclocreatine phosphate (CCrP) generated by CK, was proposed to be the active form responsible for growth inhibition. MATERIALS AND METHODS: We synthesized CCrP and tested its cellular uptake and anti tumor activity in stem cell assays and in athymic mouse models. RESULTS: CCrP seems to be taken up by cells and inhibits the growth of solid tumors with high levels of CK. CCr and CCrP have similar specificity and potency. CONCLUSION: The observation that only high-CK cell lines were responsive to CCrP, similar to CCr, indicates that the enzyme requirement was not bypassed. We propose that CK is a target for CCrP, and is involved in mediating its antiproliferative activity.

Inflammatory pseudotumours in children: CT and ultrasound appearances with histopathological correlation.

Inflammatory pseudotumour is an uncommon benign lesion that presents in children and young adults. The rarity of these lesions, particularly at extrapulmonary sites, has resulted in poor documentation of its radiological manifestations. The casenotes, radiology and histology of five patients with inflammatory pseudotumour were reviewed. Two lesions were intra-abdominal, one oesophageal, one intrapulmonary and one lower limb. CT demonstrated inflammatory pseudotumours as well circumscribed masses of soft tissue density producing displacement of surrounding structures rather than local invasion. Sonography depicted these lesions as well defined masses with homogeneous echo patterns. Surgical removal resulted in dramatic symptomatic improvement.

Childhood soft tissue chondroma: a case report.

In this paper we draw attention to the existence of soft tissue chondromas in childhood. This entity is well recognized in adults, where over 90% of the recorded cases have occurred in the hands and feet. Our case is unusual in that the child was only 10 years of age and the lesion was on the back, not in the extremity. The importance of recognizing this condition is that these chondromas may exhibit increased cellularity and mitoses and should not be mistaken for a malignant condition.

New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability.

We present a family with a radiologically distinct new form of autosomal dominant spondyloepiphyseal dysplasia, presenting with cervical instability and attendant neurological compromise and emphasise the radiological characteristics which delineate this condition. Cervical vertebral abnormalities, including malformation of the odontoid process, have been observed in some forms of spondyloepiphyseal dysplasia, but rarely lead to neurological sequelae, in contrast to the pedigree we describe.

Lunate subluxation associated with a Salter-Harris type 2 fracture of the distal radius.

A case is reported of lunate subluxation in combination with a Salter-Harris type 2 fracture of the distal radius in a child. Carpal subluxations or dislocations are rare in children. This combination has never been reported before. It significance lies in the combination of injuries, the more common of which led the lunate injury to be overlooked, emphasizing the importance of careful study of all available radiographs of an injury.

Case report: soft tissue and perivisceral calcification occurring in an infant: a case of brown fat necrosis.

Fat necrosis is a well described cause of widespread subcutaneous calcification occurring in a young infant. In this condition the radiographic demonstration of soft tissue calcification is often dramatic but is clinically irrelevant since the diagnosis is usually evident without recourse to radiology. Visceral fat necrosis and calcification, in the absence of hypercalcaemia, have been reported occasionally in association with subcutaneous fat necrosis. We report a case with calcification largely confined to deep perivisceral sites without clinical signs of subcutaneous fat necrosis.

The magnetic resonance appearances of the normal thymus in children.

The normal thymus in children is highly variable in size and shape. In some cases this has led to the misdiagnosis of mediastinal pathology and an unnecessary thoracotomy. Twenty-five children without suspicion of mediastinal pathology and five children with suspected mediastinal pathology were imaged using magnetic resonance imaging (MRI). MRI is recommended to distinguish between the normal and abnormal thymus in difficult cases where other imaging techniques are inconclusive.

Two unusual cases of nephrocalcinosis in infancy.

Nephrocalcinosis is uncommon in childhood, the main causes are renal tubular acidosis, hyperparathyroidism and medullary sponge kidney. It is also seen where there is hypercalcaemia or hypercalciuria of any aetiology; We report nephrocalcinosis in an 18-month-old infant with metaphyseal chondrodysplasia type Jansen and also in a neonate with McCune Albright syndrome who displayed atypical skeletal appearances and had multiple ovarian cysts.

Case report: the ultrasound and computed tomography appearance of mesenteric Castleman disease.

Castleman disease is a rare, benign disorder characterized by proliferation of lymphoid tissue most commonly presenting as a solitary mediastinal mass. We discuss the radiological findings in a 10-year-old female child with a mesenteric Castleman tumour presenting with intermittent abdominal pain and a persistently elevated erythrocyte sedimentation rate (ESR).

Limb shortening secondary to complications of vascular cannulae in the neonatal period.

Four cases of limb shortening presenting in childhood are described. All four children had been managed in a neonatal intensive care unit and had developed complications following the insertion of intravascular cannulae. In two, lower limb shortening and deformity were secondary to direct epiphyseal damage following extravasation of calcium or dextrose from a peripheral venous line. In the other two, forearm shortening followed ischaemia, secondary to either radial artery thrombosis from a radial artery cannula or spasm of the brachial artery following extravasation from a venous cannula in a neonate who also had a radial artery cannula. These cases highlight an important complication of the use of vascular cannulae in neonates and the problems this may pose to the orthopaedic surgeon.