Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature.

We report two unrelated infants with cephaloskeletal dysplasia or Taybi-Linder syndrome, also referred to as osteodysplastic primordial dwarfism Type III. They presented with peculiar facial features, microcephaly and skeletal and cerebral abnormalities documented radiographically and with cranial MRI and/or CT. Some dissimilarities were observed in the skeletal findings between the two patients, most likely reflecting phenotypic variability within the same disorder. Some radiographic features were shown to evolve with time in both patients. Also of interest is the unusually long survival of these patients, more than 4 years in the first and of over 6 years in the second.

Magnetic resonance imaging of renal osteodystrophy in children.

BACKGROUND: Improved life expectancy of children with chronic renal failure (CRF) has increased the number of patients with renal osteodystrophy and has brought to light novel and severe forms of the disease. These factors have contributed to the need to evaluate new, noninvasive imaging modalities for the detection of bone involvement. OBJECTIVES: To evaluate the potential of MRI in the detection of the bone changes of renal osteodystrophy as compared to conventional X-rays. MATERIALS AND METHODS: Fourteen children with CRF were examined with a 0.5-T MR unit using TI-weighted and STIR sequences and conventional radiographs. The following features were reviewed in a nonblinded study: skeletal deformities, thickening of cortical bone, trabecular pattern, intraosseous soft-tissue masses, osteonecrosis, extraskeletal calcifications and bone marrow signal changes. RESULTS: MRI adequately demonstrated skeletal deformities, cortical thickening and irregular trabecular pattern. It showed osteonecrosis and intraosseous soft-tissue masses more conspicuously than X-ray. In addition, it revealed diffuse nonspecific signal changes in the bone marrow. CONCLUSION: MRI is a potentially useful tool for evaluating the bone changes of renal osteodystrophy.

Progression of bone lesions in a child with primary hyperoxaluria type 1: evaluation by roentgenology and MRI.

We report the radiological and MRI findings of bone oxalosis and their rapid and extensive progression in a child with primary hyperoxaluria (PH) type 1. We emphasize the spectrum of skeletal changes and their differences from renal osteodystrophy and the role played by imaging in the diagnosis and follow-up of oxalosis.

[The assessment of skeletal age in hypothyroidism during the first year of life. The features of a new method]. / La valutazione dell'età scheletrica nell'ipotiroidismo durante il primo anno di vita. Rilievi con un nuovo metodo.

Determining skeletal maturity in the first year of age with usual methods is often quite difficult. Some years ago, we investigated a new method based on the time of appearance of appreciable ossification centres in the upper limbs with the following succession: humerus head, capitate, coracoid process, hamate, humerus capitulum, greater tuberosity and radius distal epiphysis; in the first month of age it must be associated to knee and foot study. We studied with our method the skeletal maturity of 16 hypothyroid patients before and after 6 and 12 months of therapy; in the first month of age we associated the study of left knee and foot and study of left hand and wrist using Greulich and Pyle's method at 12 months of age. We compared data of hypothyroid patients to data of 399 infants hospitalized in Pediatric Clinic of Florence for infectious diseases or for neonatal hyperbilirubinemia. Our study has showed that skeletal maturity, retarded before therapy, rejoined normal values over a period of time of 12 months of substitutive treatment; it was accelerated in some patients.

Spondylo-epiphyso-metaphyseal dysplasia: an atypical variant.

In a 12 years, 10 months-old-girl with severe nanism we observed bone changes of unusual spondylo-epi-metaphyseal dysplasia (S.E.M.D.). The metaphyseal and epiphyseal changes in the long bones were symmetrical and mostly rhizomelic - with the involvement of the iliac bones, tarsal bones with irregular lesions and disproportionally long fibulae; these changes confirm the heterogeneity of the disease.

[Diagnosis by imaging in renal and urinary tract malformations. Comparison of echography and traditional radiological studies]. / La diagnostica per immagini nelle malformazioni renali e delle vie urinarie. Confronto fra l'ecografia e le indagini radiologiche tradizionali.

The diagnostic sensitivity of Ultrasound (US) was studied in 142 children with suspected kidney and urinary tract malformations. According to the clinical tests performed the patients underwent excretory urography (EU) and/or voiding cystouretrography (VCU); the results were compared to US findings. In the 75 patients with malformations, US proved to be extremely sensitive in abdominal renal ectopies, in "horseshoe" kidney, and in congenital obstructions of the ureteropelvic and vesico-ureteral junctions. US showed a higher sensitivity than EU in identifying multicystic kidney and in most cases of hypodysplasia. On the other hand, VCU was more accurate in vesico-ureteral reflux studies; US should thus be used in the follow-up of the patients undergoing medical therapy. EU must however be considered as the most important tool in the evaluation of early renal injuries and their possible development.

Digital subtraction angiography of right cervical aortic arch.

This report describes a 7 year old boy with a history of recurrent respiratory infections, a 3/6 ejection systolic murmur and a right supraclavicular systolic thrill. Chest x-ray showed widening of the superior mediastinum towards the right, and barium esophagram demonstrated anterior displacement and compression of the esophagus. Cross-sectional echocardiography revealed a transverse aortic arch segment. Thus, the findings described above suggested the noninvasive diagnosis of the right cervical aortic arch. A peripheral intravenous digital subtraction angiography was necessary to evaluate the origin of the epi-aortic arteries and it proved adequate for the follow-up of these patients.

[Experience acquired over a 4-year period with the Vichi method in the study of bronchopulmonary changes in cystic fibrosis]. / Esperienza acquisita in un quadriennio con il metodo di Vichi nello studio delle alterazioni broncopolmonari della fibrosi cistica.

The classification of chest alterations in Cystic Fibrosis (CF) and related score proposed by Chrispin and Norman has been widely adopted in Europe and is still applied (although slightly modified) in most European Centres. Brasfield classification instead has been mostly used in the USA. Lately, however, to revise both classifications, the need has been felt, for a more precise correlation to anatomo-radiological data as well as for inclusion of headings which have not been taken into account so far. In 1980 one of the Authors (Vichi) worked out a new scoring system for the chest alterations of CF. Results are reported from a follow-up of 15 patients with CF carried out at the FC Centre of Meyer Ospedale in Florence from the late 1981 to 1985. The patients underwent periodic checkings including determination of clinical scoring system-according to Shwachman and Kulczychi modified by Doershuk-respiratory function tests, chest X-rays evaluated by three radiologists separately, following both Chrispin and Norman and Vichi scoring systems. The latter system has proved to be well correlated to clinical data and to the ordinary pulmonary function tests but it mainly presents a high observer reproducibility.

Unusual cone shaped epiphyses in spondyloepiphyseal dysplasia. Case report.

The radiological manifestations of an unusual spondyloepiphyseal dysplasia have been observed in a girl. A peculiar epi-metaphyseal involvement that is "cone shaped epiphyses" appears to be the major feature.

[Osteomyelitis caused by atypical mycobacteria in multiple colonies]. / Osteomielite da micobatteri atipici a colonizzazione multipla.

The authors describe a seven months and a half little girl, A.B., affected by multiple localization osteomyelitis caused by an Atypical Mycobacterium, with the culture identifies as M. Avium, belonging to the third group of Runjon classification. The radiographic tests show a primary pulmonary complex and some osteolytic areas of the seventh right rib and of the bones of the lower legs (femur and tibia). From the beginning a multiple antituberculous chemotherapy against non tuberculous mycobacterial disease has initiated: Streptomycin (for two months) associated with Rifampicin, Isoniazid and Pyridoxine. The patient responds very slowly to the treatment and only three years later the whole radiologic regression of the lesions occurs. The interest of the case comes from the extreme rarity of disseminated bone localization during an atypical mycobacterial infection, and also from the early beginning of the clinical and radiologic manifestations.

[A cluster of mucolipidosis III in a village of Calabria]. / Un "cluster" di Mucolipidosi III in un paesino della Calabria.

The authors report three cases of patients with clinical findings of Mucolipidosis III. Contractures of joint, stiffness of the hands short stature and coarse faces were observed. The lisosomal enzyme activities in serum and leucocytes were measured. The same activities were measured in extracts and by means of cultured skin fibroblast cells. These data are concordant with literature. These patients come from a Calabrian village of 100 habitants 90% of whom have the same surname.

[Recurrent cystitis in young girls. Clinical and radiologic aspects]. / Les cystites récidivantes chez les petites filles. Aspects cliniques et radiologiques.

The authors emphasise the importance of radiological investigation of all children with urological infections. The key studies are complete intravenous urography and retrograde cystography. A broad sub-division of situations may be used to draw a distinction between recurrent cystitis in the young girl with an organic cause (urethral stenosis) and recurrent cystitis of functional origin. Organic urethral stenosis may be diagnosed immediately on the basis of radiological findings of an association of vesical hypertrophy and a permanent narrowing of the distal urethra with proximal dilatation, persisting during the different phases of micturition. This possibility is rare. By contrast, functional causes are much more common: spasm of the striate sphincter, absence of inhibition of the bladder, neurological dysfunction resulting in a non-neurogenic neurogenic bladder. There remains recurrent cystitis due to insufficiently frequent micturition. Analysis of the factors actually responsible for recurrent infections in any given child may be made difficult when they are present in association.