Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome.

Two families are presented in which siblings of children affected with Hallervorden-Spatz syndrome exhibited characteristic cranial magnetic resonance imaging changes before developing clinical features of the disease. Linkage to a major locus on chromosome 20p supported the diagnosis of Hallervorden-Spatz syndrome. In some patients with Hallervorden-Spatz syndrome, iron is radiographically evident before the onset of clinical symptoms.

Chronic recurrent multifocal osteomyelitis: a radiological and clinical investigation of five cases.

OBJECTIVE: To make a detailed evaluation of the clinical and radiological course of five children with chronic recurrent multifocal osteomyelitis (CRMO). Emphasis was laid on the correlation between clinical data and radiological findings. DESIGN AND PATIENTS: Clinical data, histology (n = 11), bone scintigraphy (n = 17), and the plain radiographs (n = 198) of these patients were reviewed. The mean time of observation was 6.6 years (range 1-14.5 years). Thirty-two lesions seen at the time of primary diagnosis (n = 22) or during the course of the disease (n = 10) were evaluated. Twenty-seven foci were located in bone; in five cases the sacroiliac joints were involved. RESULTS: Bone scintigrams showed nearly all foci (31/32) and were especially helpful in clinically asymptomatic lesions (14/32) or foci which were radiographically difficult to detect or not seen at all (8/32). Only 14 of 32 foci were locally symptomatic clinically. In all cases with a short interval (< or = 3 weeks) between the onset of local symptoms and evaluation by plain radiographs (n = 5) osteolysis was shown without a sclerotic margin. All bone lesions with a longer duration of local symptoms (n = 7) revealed a variable radiographic pattern: osteolysis with sclerotic rim in three, a mixed lytic-sclerotic lesion in three and pure sclerosis in one. In two cases low back pain could be ascribed to sacroiliitis. CONCLUSION: Only careful correlation between clinical, scintigraphy and radiographic features permits an accurate assessment of disease activity in CRMO. The bone lesions detected radiographically soon after the onset of symptoms resemble those of acute osteomyelitis.

Selective vitamin B12 malabsorption with proteinuria (Imerslund-Najman-Gräsbeck-syndrome): ultrastructural examinations on renal glomeruli.

Renal biopsy material obtained from a 6 year old girl suffering from an Imerslund-Najman-Gräsbeck-syndrome was examined by light- and electron-microscopy. Clinically the patient presented the characteristic intrinsic factor independent vitamin B12 malabsorption with severe megaloblastic anemia and a benign nephropathy with non-selective proteinuria. Electron microscopic examination of the prenal glomeruli showed no obvious alterations of the Electron microscopic examination of the renal glomeruli showed no obvious alterations of the capillary basement membranes but revealed a considerable diffuse dilatation of the rough endoplasmic reticulum in the podocytes with accumulation of a finely fibrillar material within the widened cisternae. This finding is interpreted as an indication that the synthesis and/or secretory activities of the podocytes, as far as the basement membrane is concerned, and thus the basement membranes themselves, may be altered with the consequence of an increased permeability of the filtration barrier. Because proteinurie contrary to anemia did not respond to parenteral vitamin B12 therapy and therefore is obviously not vitamin B12 dependent, it is assumed that both vitamin B12 malabsorption and glomerulopathy in this hereditary disease are established by a pleiotropic gene or two closely associated genes.