Treatment of CNS malignant rhabdoid tumors.

BACKGROUND: Central Nervous System (CNS) rhabdoid tumours are a highly malignant group of neoplasms usually occurring in children under 2 years of age with characteristic histopathologic findings but unclear histiogenesis and almost uniformly fatal outcome. There is still no proven curative therapy available. PROCEDURE: The clinical course and the successful outcome of therapy in two children with primary CNS rhabdoid tumour are described in this context. Both children had subtotal excision of the primary tumour and received chemotherapy based on the SIOP Malignant Mesenchymal Tumour (MMT-95) protocol with addition of triple intrathecal chemotherapy. Following this, one of the patients received high dose therapy (busulphan and thiotepa), whereas the other had craniospinal radiotherapy with a boost to the primary site. RESULTS: The treatment was reasonably well tolerated and both patients are alive with no evidence of disease 52 months and 65 months after the primary diagnosis. Their favourable outcomes are compared with those of 49 others reported in the literature. CONCLUSIONS: Intensified therapy (with autologous bone marrow transplantation and intrathecal chemotherapy) may improve the prognosis of patients with malignant rhabdoid tumour.

The importance of testing for adrenoleucodystrophy in males with idiopathic Addison's disease.

X linked adrenoleucodystrophy (X-ALD) is considered to be a rare cause of Addison's disease, although several small series suggest a high incidence in young Addisonian males. A survey in the south west of England identified 12 male patients diagnosed with Addison's disease in the period 1987-99. In 10 of these (83%) X-ALD was the underlying cause; the other two were of autoimmune aetiology. Five boys had developed Addison's disease subsequent to the diagnosis of X-ALD. Of the remaining five, in three boys the diagnosis of X-ALD was considerably delayed (by six months to two years from that of Addison's disease) and in two it was only made as a result of this survey. We also identified a patient who presented with Addison's disease at the age of 5 years but was only diagnosed as having X-ALD at the age of 34 years; in the interim his diagnosis of adrenomyeloneuropathy had been missed. Our experience highlights the absolute necessity of measuring very long chain fatty acids in all males with idiopathic Addison's disease.

Non-Epstein-Barr virus-associated T-cell lymphoma following cardiac transplantation for Barth syndrome.

UNLABELLED: Barth syndrome is a metabolic disease characterized by infantile cardiomyopathy, neutropenia and organic aciduria. We report disease evolution in one of the first affected boys to undergo successful cardiac transplantation. CONCLUSION: Although cardiac status stabilized, he developed disabling skeletal myopathy, protracted lymphopenia and--5 y after transplant--fatal Epstein Barr (EBV)-negative T-cell non-Hodgkin's lymphoma.

Superior sagittal sinus thrombosis in a child with nephrotic syndrome.

A 3-year-old male with steroid-responsive nephrotic syndrome developed a rare complication, sagittal sinus thrombosis during an episode of gastroenteritis, while on steroid therapy. Anticoagulation, as assessed by partial thromboplastin time, was difficult to maintain, despite administering high doses of heparin, infusions of fresh-frozen plasma to provide antithrombin III, and, subsequently, maximum doses of warfarin (0.3 mg/kg per day). Despite these problems the child made a complete neurological recovery.