Chronic granulomatous disease: value of the newer imaging modalities

The contribution of computed tomography (CT), ultrasound (US), and nuclear medicine studies in the evaluation and management of seven patients with chronic granulomatous disease was retrospectively reviewed. These modalities proved valuable in detecting sites of infection, particularly in the abdomen. Three patients had liver abscesses, two had suppurative retroperitoneal lymphadenopathy, one had empyema, and one had a scrotal abscess. Furthermore, CT or US-guided percutaneous aspiration and/or drainage of infected material was successfully performed on three separate occasions in a single patient, obviating the need for surgery. The newer imaging modalities are useful in the prompt diagnosis and in some instances non-operative therapy of complications of chronic granulomatous disease.     

Retroperitoneal lipoma in children: Choosing among diagnostic imaging modalities

We present two cases of benign retroperitoneal lipomas in children. Intravenous urography in both revealed large masses of fat density displacing the ipsilateral kidney superomediad. Angiography in one showed an avascular mass. The other patient had a markedly echogenic mass with indistinct margins on ultrasonography, and a computed tomographic scan confirmed the fatty composition of the tumor. Nineteen previously reported cases of retroperitoneal fatty neoplasms in children are reviewed. The urographic findings of a radiolucent mass displacing the ipsilateral kidney or ureter are highly specific for retroperitoneal lipoma and usually obviate the need for additional imaging procedures.     

Congenital central hypoventilation syndrome: not just another rare disorder

Congenital central hypoventilation syndrome (CCHS) is a rare syndrome, present from birth, and is defined as the failure of automatic control of breathing. Patients have absent or negligible ventilatory sensitivity to hypercapnia and hypoxaemia during sleep and wakefulness. Therefore, especially while asleep, children with CCHS experience progressive hypercapnia and hypoxaemia. They lack arousal responses and sensations of dyspnoea to the endogenous challenges of isolated hypercapnia and hypoxaemia and to the combined stimulus of hypercapnia and hypoxaemia. Patients with CCHS do not exhibit signs of respiratory distress when challenged with hypercarbia or hypoxia. The diagnosis is one of exclusion, ruling out any primary pulmonary, cardiac, metabolic or neurologic cause for central hypoventilation. CCHS is associated with other manifestations of autonomic nervous system dysfunction, including Hirschsprung's disease. All patients with CCHS require lifelong ventilatory support during sleep but some will be able to maintain adequate ventilation without assistance while awake once past infancy. However, some CCHS patients require ventilatory support for 24h/day. Modalities of home mechanical-assisted ventilation include positive pressure ventilation via tracheostomy, non-invasive positive pressure ventilation (bi-level ventilation), negative pressure ventilation and diaphragmatic pacers. Supplemental oxygen alone is inadequate treatment. With early diagnosis and adequate ventilatory support, these children can have good outcomes and lead productive lives.     

Bone marrow transplantation: it's not just about blood anymore!

Abstract: Bone marrow transplantation is established as effective cell therapy for hematopoietic disorders. With the recognition that bone marrow also contains mesenchymal stem cells, with the potential to differentiate to a wide variety of mesenchymal tissues, bone marrow transplantation, in theory, may be used to treat many nonhematopoietic disorders as well. Here, we present an overview of the developments of clinically oriented marrow mesenchymal stem cell biology and it's early applications as adjunct cell therapy in conventional stem cell transplantation, and most importantly as stem cell therapy for nonhematopoietic disorders.